General Topics

Overview of Endocrine Neoplasia and Cancer | Endocrinology

What are endocrine neoplasia and cancer?

Endocrine neoplasia refers to growths or tumors that affect the hormone-producing endocrine system. Tumors develop in the adrenal glands, pituitary gland, parathyroid glands, or pancreas and can be cancerous or benign. The Nig Comprehensive Cancer Center‌ Endocrine Neoplasia Program is dedicated to the evaluation and treatment of the structural and hormonal symptoms of these disorders.

Our endocrine neoplasia program is the only one in Connecticut, and our dedicated team of experienced multidisciplinary specialists provides clinical services in the following areas:

  • Thyroid cancer and thyroid nodules
  • Fine injection aspiration biopsy: Thyroid and adrenal
  • Thyroid ultrasound
  • Thyroid carcinoma test: Thyrogen stimulated thyroglobulin and thyroid scan
  • Cancer and benign tumors of the adrenal glands.
  • Invasive radiology including petrous sinus sampling, adrenal vein sampling, and selective infusion of pancreatic calcium
  • Hyperparathyroidism and parathyroid tumors
  • Pituitary adenomas
  • Dynamic endocrine examination
  • Nuclear medicine scan

With specialists in a variety of diagnostic and therapeutic approaches, we work with teams of physicians from other disciplines to treat patients with endocrine neoplasia. Our medical professionals have experience in endocrine surgery, urological surgery, neurosurgery, neuro-ophthalmology, pathology, nuclear medicine, invasive radiology, hypertension, genetics, molecular biology, and endocrinology. They provide state-of-the-art patient care while conducting basic and clinical research to advance treatment options.

Types of endocrine neoplasia and cancer

Tumors can appear in any large endocrine gland, including the thyroid, parathyroid, pituitary, and adrenal glands, and the pancreas. The most common sites are:

  • Thyroid gland: Most endocrine cancers develop in the thyroid gland (a butterfly-shaped organ in the lower neck). Thyroid cancer is more common in women than in men. Statistics show that the annual rate of thyroid cancer is increasing in the United States and around the world. The good news is that most thyroid tumors (called nodules) are not cancerous.
  • Pituitary gland: A pea-sized organ connected to the brain, the pituitary gland produces hormones that affect growth and fertility. Pituitary tumors are almost always benign, but they contain more or less than one or more hormones, which can upset the balance of other glands.
  • Adrenal gland: The two adrenal glands that live above the kidneys produce hormones that regulate metabolism (cortisol), stress response (adrenaline), blood pressure (aldosterone), and certain sexual characteristics (androgens).
  • Pancreas: Although the pancreas plays an active role in the digestive system, it is also a source of important hormones, including insulin. Rare tumors produce too much insulin or other related hormones, which can affect blood sugar levels.

Although some cases are inherited, the cause of most endocrine cancers is generally unclear.

Symptoms of endocrine neoplasia and cancer

Some patients with thyroid tumors notice a lump in the neck. For others, and for other endocrine tumors, the general rules do not apply. Some tumors cause severe hormonal changes or discomfort, while other tumors do not have any symptoms.

So when does a tumor have symptoms? You basically have symptoms if it doesn’t work (makes extra hormones) but is active (doesn’t make them). For example, an adrenal tumor that produces excess testosterone can cause a patient to develop certain male characteristics, such as facial hair. Symptoms also appear as the tumor grows.

A large tumor destroys part of the gland, causing a lack of hormones. It also affects nearby structures. For example, a large pituitary tumor can focus on the nerve that runs between the eyes and the brain, causing vision changes. When endocrine tumors have no symptoms, doctors may randomly notice them and evaluate the patient for another reason.

What are the genes associated with multiple endocrine neoplasias?

Mutations in the MEN1, RET, and CDKN1B genes cause multiple endocrine neoplasms. Mutations in the MEN1 gene cause type 1 multiple endocrine neoplasias. This gene provides instructions for the production of a protein called melanin. Menin acts as a tumor suppressor, which means that it generally prevents cells from growing and dividing too quickly or uncontrollably.

Although the exact function of the meninges is unknown, it is involved in cellular functions such as DNA copying and repair and regulation of the activity of other genes. When mutations inactivate two copies of the MEN1 gene, the meninges are no longer available to control cell growth and division. Loss of functional meninges allows cells to divide more frequently, leading to tumor characterization of multiple endocrine neoplasia type 1. It is not clear why these tumors affect endocrine tissues.

Mutations in the RET gene can cause type 2 multiple endocrine neoplasias. This gene provides instructions for the production of a protein involved in cell signaling. The RET protein stimulates chemical reactions that direct cells to respond to their environment, for example by dividing or maturing. Mutations in the RET gene over-activate the protein’s signaling function, which stimulates cell growth and division in the absence of signals external to the cell. This unproven cell division can lead to the formation of tumors in the endocrine glands and other tissues.

Mutations in the CDKN1B gene cause type 4 multiple endocrine neoplasias. This gene provides instructions for the production of a protein called p27. Like the meaning protein, p27 is a tumor suppressor that helps regulate cell growth and division. Mutations in the CDKN1B gene reduce the number of functional p27 that allows cells to grow and divide without being analyzed. This irregular cell division leads to the development of tumors in the endocrine glands and other tissues.

Diagnosis of endocrine neoplasia and cancer

Doctors can perform several tests to check for a suspected endocrine tumor:

  • A medical history and physical exam to assess for physical or behavioral changes related to hormone function
  • Lab tests to check for abnormal hormone levels in the blood or urine
  • Imaging studies (CT scan, MRI, or ultrasound) to look for evidence of abnormal tissue in the gland
  • A biopsy to obtain a sample of abnormal tissue and analyze it for cancer cells

Treatment for endocrine neoplasia and cancer

For any endocrine tumor, treatment involves surgery to remove it. For people with cancer, another approach that is sometimes used is radiation therapy. Patients sometimes receive hormone therapy to balance the level of hormones in the body. Depending on the type of tumor, your doctor may prescribe other specific rules to meet your individual needs.

General Topics

Diagnosis of Conjunctivitis in Children | Ophthalmology

What is conjunctivitis in children?

Conjunctivitis in children is inflammation of the lining of the eye over the eyeball and inside the eyelids. Infection with bacteria or viruses can cause conjunctivitis. Infection occurs easily, especially if the eye is already irritated. Sometimes children can develop conjunctivitis as part of a cold.

Viral conjunctivitis is very contagious, but bacterial conjunctivitis is not. conjunctivitis in children’s condition is often classified as neonatal conjunctivitis or infantile conjunctivitis. Each group has different causes and treatments.

Types of conjunctivitis in children

  1. Bacterial Conjunctivitis: Bacterial conjunctivitis is another common type of pink eye in which viruses are spread through the air by sneezing and coughing. Bacterial conjunctivitis is a common viral infection of the upper respiratory tract, such as measles, the flu, or the common cold.
  2. Viral Conjunctivitis: Viral conjunctivitis is a common infection in the Western population and is often associated with other infections throughout the body. Due to their correlation with respiratory anatomy, viral upper respiratory infections are a common cause of secondary viral conjunctivitis.
  3. Gonococcal and chlamydial conjunctivitis: It is caused by a bacteria called Neisseria gonorrhea. The newborn passes this type of conjunctivitis through the birth canal of the infected mother. This type of conjunctivitis can be prevented with the use of eye drops at birth in newborns. Newborn eyes are often very red, with thick discharge and swelling of the eyelids. This type usually begins 2 to 4 days after birth. Treatment of gonococcal conjunctivitis usually involves antibiotics through an intravenous (IV) catheter.
  4. Allergic Conjunctivitis: Caused by an allergy, not an infection, not an infection. Antibiotic eye drops may not help, but allergy eye drops can. It usually affects both eyes and the main symptoms in children are watery eyes and itching.
  5. Non-infectious conjunctivitis: Conjunctivitis, which is caused by irritation of the eyes, causes symptoms of conjunctivitis that can occur from a variety of sources, including smoke, diesel exhaust, perfumes, and certain chemicals. Some types of conjunctivitis stem from sensitivity to certain substances ingested, including herbs such as conjunctiva and turmeric.

Causes of conjunctivitis in children

Conjunctivitis in children may be caused by:

  • Bacteria (several different varieties may cause conjunctivitis)
  • Viruses (such as adenovirus or herpes virus)
  • Allergies
  • Exposure to chemicals (rarely, the drops given to newborns for preventing conjunctivitis may have the reverse effect and may irritate the eye)

The causes and treatments of conjunctivitis in children among newborns may differ.

Symptoms of conjunctivitis in children

The following are common symptoms of the condition. However, each child may experience symptoms differently. There may be symptoms:

  • Gritty feeling in one or both eyes
  • Itchy, irritated eyes
  • Clear, thin drainage and increased tearing
  • Sneezing and runny nose
  • Stringy discharge from the eyes
  • Thick, green drainage from the eyes
  • Ear infection
  • A lesion with a crusty appearance
  • Eyes that are matted together in the morning
  • Swelling of the eyelids
  • Pink or red discolouration of the whites of one or both eyes
  • Discomfort when the child looks at a light
  • Burning in the eyes

The symptoms of conjunctivitis in children sometimes resemble other medical problems. Always see your child’s healthcare provider for an examination.

Diagnosis of conjunctivitis in children

Conjunctivitis in children can be diagnosed by its symptoms, and the exact cause can be determined by the paediatrician. Since there are other conditions, such as hay fever, that have similar symptoms, it is important to see a paediatrician as soon as possible.

Common symptoms of infectious conjunctivitis are red, watery, and sticky eyes. However, infectious conjunctivitis is sometimes confused with other types of conjunctivitis, which are treated differently.

Conjunctivitis in children treatment

Treatment depends on your child’s symptoms, age, and general health. It also depends on the cause of the situation, for example:

  • Bacterial infections: It is administered with antibiotic eye drops.
  • Viral infection: Viral conjunctivitis generally does not require treatment. In some cases, antibiotic eye drops can be used to prevent secondary infection.
  • Allergic reaction: Treatment of conjunctivitis caused by allergies generally involves treating the allergies. Your child’s primary care provider may prescribe oral medications or eye drops to help with allergies.
  • Herpes infection: If your child has an eye infection caused by a herpes infection, her paediatrician may refer her to an eye care specialist. You can give your child both oral medications and eye drops.

If the disease is affected by an infection, it is important to know that the disease can spread from one eye to another by touching the affected eye or the fluid that comes out of the eye. The infection can also spread to other people. Fluid from the eye comes out 24 to 48 hours after starting treatment.

To help prevent the spread of infection, you should wash your hands frequently while caring for your baby. Make sure your child does not touch her eyes. Your child should wash her hands often.

Prevention of conjunctivitis in children

Conjunctivitis spreads throughout the nursery or preschool. In some cases, the infection is passed on to the friends of young children, who pass it on to the child.

Common prevention strategies reduce the spread of infections and reduce the risk of recurrent conjunctivitis:

  • Encourage young children to avoid touching or rubbing their eyes.
  • Keep school children away from school with a fever or thick eye discharge.
  • Don’t share eye care products like contact lenses, glasses, or eye makeup. Encourage children not to share these products.
  • Practice washing your hands frequently.
  • Encourage children not to touch their friends’ faces.

Complications of conjunctivitis in children

Pink eye is a depressing condition, especially allergic conjunctivitis, but in most cases, it does not pose a serious health threat.

Complications of conjunctivitis are very rare, but when they do occur they are serious and include:

  • A severe case of allergic conjunctivitis can lead to scarring of the eye
  • In cases of infectious conjunctivitis, the infection can spread to other parts of the body and trigger more serious secondary infections, such as meningitis.

When to contact the doctor

  • Worsening drainage or discharge from the eye
  • Fever in addition to pink eye
  • Blistering or rash on the eyelids
  • Severe light sensation or pain
  • Vision problems
  • Any injury to the eye
  • Symptoms that do not change within a week.
General Topics

Causes of Male Reproductive Endocrinology | Endocrinology

What is male reproductive endocrinology?

Male reproductive endocrinology is a sexual development and hormonal function that depends on a complex feedback loop consisting of a hypothalamus-pituitary-testis modulated by the central nervous system. Male sexual dysfunction is second only to hypogonadism, neurovascular disorders, drugs, or other disorders.

Despite the growing interest in men’s health and the growing number of clinics dedicated to male reproductive health, not all providers trust the latest science or use evidence-based methods. We have developed our clinical practice guide on testosterone treatment and other science-based resources to ensure that men with reproductive health problems can receive the best medical diagnosis and care. 

Testosterone and DHT have metabolic and other effects, including

  • Stimulating protein anabolism (increasing muscle mass and bone density)
  • Stimulating renal erythropoietin production (increasing red blood cell mass)
  • Stimulating bone marrow stem cells (modulating the immune system)
  • Causing cutaneous effects (ie, sebum production, hair growth)
  • Causing neural effects (ie, affecting cognition, increasing libido, and possibly aggression)

Testosterone also undergoes conversion to estradiol by the enzyme, aromatase; estradiol mediates most of testosterone’s action on organs such as bones and the brain. Testosterone, DHT, and estradiol provide negative feedback on the hypothalamic-pituitary axis. In males, estradiol is the main inhibitor of LH production, whereas both estradiol and inhibin B, a peptide produced by Sertoli cells of the testes, inhibit the production of FSH.

In the presence of testosterone, FSH stimulates the Sertoli cells and induces spermatogenesis. In spermatogenesis, each germinal cell (spermatogonium), located adjacent to the Sertoli cells, undergoes differentiation into 16 primary spermatocytes, each of which generates 4 spermatids. Each spermatid matures into a spermatozoon. Spermatogenesis takes 72 to 74 days and yields about 100 million new spermatozoa each day.

Upon maturation, spermatozoa are released into the rete testis, where they migrate to the epididymis and eventually to the vas deferens. Migration requires an additional 14 days. During ejaculation, spermatozoa are mixed with secretions from the seminal vesicles, prostate, and bulbourethral glands.

How male reproductive endocrinology is assessed?

If you and your partner are unable to conceive after a year of trying, you should speak with your primary care physician, who can refer you to a fertility specialist. A urologist or reproductive endocrinologist can help diagnose and treat male infertility.

It starts with your doctor’s medical history. Your childhood growth and development, and you may have questions about past infections and surgeries, sexually transmitted diseases, testicular damage, and exposure to harmful chemicals or drugs.

Your doctor will perform a physical exam to check for low testosterone levels or other conditions that affect fertility (such as small or missing testicles). You will have a sperm test (often more than one) to see the size, movement, and shape of the sperm. Blood tests look for a hormone deficiency.

Also, your doctor may perform a scrotal or transrectal ultrasound. This imaging test looks for varicose veins around the testicles, tumors, or obstruction in the vas deferens. Your partner must have a complete medical history and evaluation at the same time. It gives you a complete picture of your potential as a couple with children.

Causes of male reproductive endocrinology

In about 30 to 40 percent of cases, the problem is in the testicles, the glands that make sperm, and testosterone (the main male sex hormone). Cancer treatments such as damage to the tonsils, infections such as tonsils, radiation or chemotherapy, trauma, or surgery.

Heat affects sperm production. Heat loss occurs when one or both testicles do not descend from the abdomen (where they were before birth) into the scrotum (usually the sac of skin that contains the testicles). Most men dilate the veins around the testicles (called a varicocele), which also raises the temperature in the testicles. If they are very large, a varicocele can lead to less sperm production.

Some inherited (genetic) diseases may or may not cause motility or reduced sperm production. In 10 to 20 percent of cases, the problem is the obstruction in the passage of sperm from the testicles to the penis through tubes called the vas deferens. It can be caused by infection scars, vasectomy (surgery to cut the vas deferens and prevent sperm), or cystic fibrosis (genetic disease). In addition to the penis, the backward movement of sperm into the bladder can also cause infertility.

In rare cases, infertility is caused by a hormonal deficiency. The testes produce luteinizing hormone (LH) and follicle-stimulating hormone (FSH) testosterone and sperm. The pituitary gland in the brain produces these hormones. Any condition that lowers LH and FSH levels, such as a pituitary tumor, can lead to low or low sperm production and low levels of testosterone in the blood.

In 30 to 40 percent of men with infertility, the cause is not found. But, these men usually have abnormal sperm (for example, sperm that are slow-moving, abnormally shaped, or in small numbers). Other problems include reduced sperm production and fertility. These include chronic (chronic) illnesses, total health, late payments, certain prescription drugs, and medications.

Treatment for male reproductive endocrinology treated?

Treatment of male reproductive endocrinology depends on the cause.

Surgery: Obstruction of the sperm transport system can be corrected surgically. Vasectomy can be reversed by surgery in 85% of cases, but most men remain infertile even after the barrier is resolved (other types of barriers are difficult to treat due to past infections). If veins are large and repaired before chronic damage, varicocele repair is likely to restore fertility. Surgery can also repair the varicocele, but it may not restore fertility.

Hormonal therapy: If the cause is due to low testosterone levels, treatment with injections of hormones (LH and FSH) is usually successful. However, hormone therapy can take a year or more to produce enough sperm and regain fertility.

Assisted reproductive technologies: Other options for a couple to achieve pregnancy are assisted reproductive techniques. These treatments involve injecting the collected sperm into the uterus, injecting the sperm with the egg outside the body (in vitro fertilization or IVF), or injecting a sperm into the egg (intracytoplasmic sperm injection or ICSI).

To improve your chances of successful treatment, it is helpful to maintain a healthy lifestyle exercise often, eat a healthy diet, and do not smoke or use recreational drugs. Also, continue treatment for any chronic illness.

General Topics

Symptoms of Bone health and Osteoporosis | Endocrinology

What is osteoporosis?

Osteoporosis is a condition that affects the bones. Its name comes from the Latin “porous bones”. The inside of a healthy bone has tiny holes like a honeycomb. Osteoporosis increases the size of these areas, causing loss of strength and bone density. Also, the outside of the bone becomes weak and thin.

Osteoporosis can occur at any age, but it is more common in adults, especially women. More than 53 million people in the United States have or are at risk of developing osteoporosis. People with osteoporosis are at risk for fractures or fractures when they perform normal activities such as standing or walking.  The most commonly affected bones are the ribs, hips, and bones of the wrist and spine.

Bone is biological tissue that is constantly being degraded and replaced. Osteoporosis occurs when the creation of new bone does not sustain the loss of old bone. Osteoporosis affects men and women of all races. But white and Asian women, especially older menopausal women, are at the highest risk. Medications, a healthy diet, and exercise with weights can help prevent bone loss or strengthen already weak bones.

What can I do to keep my bones healthy?

You can take some simple steps to prevent or delay bone loss. For example:

Include a lot of calcium in your diet. For adults ages, 19 to 50 and for men ages, 51 to 70, the recommended daily allowance (RDA) is 1,000 milligrams (mg) of calcium per day. The recommended dose is 1200 mg per day for women over 50 and men over 70.

Good sources of calcium are dairy products, soy products like almonds, broccoli, kale, canned salmon, sardines, and tofu. If you find it difficult to get enough calcium from your diet, ask your doctor about supplements.

Take care of vitamin D Your body needs vitamin D to absorb calcium. For adults ages 19 to 70, the RDA for vitamin D is 600 international units (IU) per day. For adults 71 and older, this recommendation increases to 800 IU per day.

Good sources of vitamin D are fatty fish such as salmon, trout, white fish, and tuna. Also, mushrooms, eggs, and fortified foods such as milk and whole grains are good sources of vitamin D. Sunlight also contributes to the body’s production of vitamin D.

Include physical activity in your daily routine. Weight-bearing exercises, such as walking, jogging, and stair climbing, can help you build strong bones and decrease bone loss.

Stay away from drug abuse. Do not smoke. If you are a woman, have no more than one drink a day. If you are a man, avoid drinking more than two drinks a day.

Importance of bone health

Your bones are constantly changing: new bone is forming and old bone is breaking. As a child, your body makes new bone faster than it breaks down old bone and increases your bone mass. Most people reach bone mass in their 30s. After that, the bone reconstruction will continue, but you will lose a little more bone mass than you gained.

A condition that causes bones to become weak and brittle (how likely you are to develop osteoporosis) depends on how much bone mass you gain when you reach your 30s and how quickly you lose it after that. At your peak bone mass, you have more bone on the “bank” and are less likely to develop osteoporosis as you age.

Does it affect bone health?

Bone health is affected by many factors. For example:

The amount of calcium in your diet. A diet low in calcium contributes to a decrease in bone density, a risk of early bone loss and fractures.

Physical activity: Those who are physically inactive are at a higher risk of developing osteoporosis than their active counterparts.

Tobacco and alcohol: Research suggests that tobacco use contributes to weak bones. Similarly, more than one alcoholic drink a day for women on a regular basis or two alcoholic drinks a day for men increases the risk of osteoporosis.

Gender: If you are a woman, you are at risk of developing osteoporosis because women have less bone tissue than men.

Size: If you are very thin (with a body mass index of 19 or less) or have a small body frame, you are at risk because your bone mass is lower than your age.

Years: As you get older, your bones become thinner and weaker.

Ethnic and family history: If you are white or of Asian descent, you are at risk of developing osteoporosis. Also, having parents or siblings with osteoporosis puts you at higher risk, especially if you also have a family history of fractures.

Hormone levels: Too much thyroid hormone can cause bone loss. In women, decreasing estrogen levels can significantly increase bone loss at menopause. The absence of premenopausal amenorrhea also increases the risk of osteoporosis. In men, low testosterone levels lead to loss of bone mass.

Eating disorders and other conditions: People with anorexia or bulimia are at risk for bone loss. Also, conditions such as stomach surgery (gastrectomy), weight loss surgery, and Crohn’s disease, celiac disease, and Cushing’s disease can affect the body’s ability to absorb calcium.

Some drugs: Long-term use of corticosteroid medications such as prednisone, cortisone, prednisolone, and dexamethasone can cause bone damage. Other medications that increase the risk of osteoporosis include aromatase inhibitors, selective serotonin reuptake inhibitors, methotrexate, phenytoin (Dilantin), and some anti-seizure medications such as phenobarbital and proton pump inhibitors to treat breast cancer.

Symptoms of osteoporosis

In general, there are no symptoms of osteoporosis. This is why it is sometimes called a silent disease. However, you should look for the following:

  • Loss of height (decrease of an inch or more)
  • Change of posture (stooping or leaning forward)
  • Piri of respiration (capacity of the small lungs due to compressed discs)
  • Bone fractures
  • Pain in the lower back

Causes of osteoporosis

Your bones are in a constant state of restoration: new bone is formed and old bone is broken. When you are a child, your body makes your bone faster than it breaks an old bone, and your bone mass increases. This process slows down in their early 20s, and most people reach their peak bone mass in their 30s. As people age, bone mass is lost faster than it was created.

How likely you are to develop osteoporosis depends on the amount of bone mass you have achieved as a youth. Peak bone mass is inherited in some way and the species group also varies. At your peak bone mass, you have more bone on the “bank” and are less likely to develop osteoporosis as you age.

Risk factors of osteoporosis

There are many risk factors that increase your chances of developing osteoporosis, two of which are sex and age.

Osteoporosis is a disorder that affects more and more people. However, women over the age of 50 or postmenopausal women are at higher risk of osteoporosis. During the first 10 years after menopause, women experience a rapid loss of bone mass because menopause reduces the production of a hormone called estrogen, which protects against excessive loss of bone mass.

Age and osteoporosis affect men too. You might be surprised that men over the age of 50 are more likely to develop osteoporosis-induced fractures than those with prostate cancer. An estimated 80,000 men a year break their hips and women are more likely to die in the year following a hip fracture.

The risk of developing osteoporosis is also related to race. Caucasian and Asian women are more likely to develop osteoporosis. However, African American and Hispanic women are still at risk. In fact, African American women are more likely than white women to die after a hip fracture.

Another factor is bone structure and body weight. Small and thin people are at higher risk of developing osteoporosis because they lose less bone than people with higher body weight and larger frames. Family history also influences the risk of osteoporosis. If your parents or grandparents have signs of osteoporosis, such as a broken hip after a minor fall, you are at risk for the disease.

Finally, certain medical conditions and medications can increase your risk. If you have any of the following conditions, some of which are related to irregular hormone levels, you and your healthcare provider may want to consider screening for osteoporosis.

  • An overactive thyroid, parathyroid, or adrenal glands.
  • History of bariatric surgery (weight loss) or organ transplantation.
  • History of hormone therapy or missed periods due to breast or prostate cancer.
  • Celiac disease or inflammatory bowel disease.
  • Blood diseases such as multiple myeloma.

Some medications can cause side effects that can damage bones and lead to osteoporosis. These include steroids, breast cancer treatments, and medications to treat seizures. You should talk to your healthcare provider or pharmacist about the bone effect of your medication.

Each risk factor may seem related to something beyond your control, but it is not. You have control over some of the risk factors for osteoporosis. You can discuss drug-related problems with your healthcare provider. And you are responsible for:

Eating habits: If your body does not have enough calcium and vitamin D, you are more likely to develop osteoporosis. Although eating disorders such as bulimia or anorexia are risk factors, they can be treated.

Lifestyle: People who lead a sedentary (inactive) lifestyle are at risk of developing osteoporosis.

Tobacco use: Smoking increases the risk of cracking.

Alcohol consumption: having two drinks (or more) a day increases the risk of osteoporosis. 

Treatment for osteoporosis

If your test reveals that you have osteoporosis, your doctor will work with you to create a treatment plan. Your doctor can also prescribe medications and lifestyle changes. These lifestyle changes can increase your intake of calcium and vitamin D, as well as get adequate exercise.

There is no cure for osteoporosis, but proper treatment can help protect and strengthen your bones. These treatments can help slow bone breakdown in your body, and some treatments can increase the growth of new bone.

Medications for osteoporosis: The most common medicine used to treat osteoporosis is called bisphosphonates. Bisphosphonates are used to prevent bone loss. They can be taken orally or by injection. Among them are:

  • Alendronate (Fosamax)
  • Ibandronate (Boniva)
  • Rhysdronate (octonel)
  • Zoledronic acid (regeneration)
  • Other medications can be used to prevent bone loss or to stimulate bone growth. Among them are:
  • Testosterone
  • In men, testosterone treatment can help increase bone density.

Hormonal therapy: For women, the estrogen used during and after menopause can help reduce bone density. Unfortunately, estrogen therapy also increases the risk of blood clots, heart disease, and some types of cancer.

  • Raloxifene (Evista)
  • Although there is still a risk of blood clots, these drugs have been found to provide the benefits of estrogen without much risk.
  • Denosumab (Prolia)
  • This injection is given by injection and is more promising than bisphosphonates in reducing bone loss.
  • Teriparatide (Forteo)
  • This medicine is also given by injection and stimulates bone growth.
  • Calcitonin Salmon (Fortical and Miocalcin)
  • This medicine is taken as a nasal spray and reduces bone resorption. Talk to your doctor about the risk of cancer with this drug.
  • Romosozumab (evidence)

The drug was approved by the FDA in April 2019 to treat women experiencing menopause and at risk of fractures.

12 medications are given under the skin in two injections (in one session) once a month for 12 months or less. It has a “black box” warning because it increases the risk of heart attack or stroke, so it is not recommended for people with a history.

Natural remedies for osteoporosis: Since osteoporosis medications can cause side effects, you can try other treatments instead of medications. Many supplements such as red clover, soy, and black cohosh can be used to help promote bone health.

However, before using these supplements, be sure to speak with your doctor or pharmacist. This is for two main reasons. There are very few studies to support the use of these substances in the treatment of osteoporosis. As a result, we have no evidence that they work.

These medications can cause side effects in addition to interacting with the medications you are taking. You need to make sure you know what side effects are occurring and if you are taking medications that can interact with the supplement.

All of them report good results with natural treatments.

Exercises for osteoporosis: What you can do to help keep your bones healthy is not the right thing to do. Exercise is very important, especially exercises with weights.

Weight-bearing exercises involve placing your feet or hands on the floor or another surface. Examples:

  • Climbing stairs
  • Leg presses
  • Squats
  • Lizards
  • Resistance bands
  • Dumbbells
  • Heavy-duty exercise machines

These exercises help because they make your muscles push and pull on your bones. This action tells your body to form new bone tissue, which makes your bones stronger.

This isn’t your only benefit from exercise, however. In addition to its many positive effects on weight and heart health, exercise can also improve your balance and coordination, which can help you avoid falls.

Prevention of osteoporosis

Your bones need good nutrition and regular exercise to stay healthy throughout your life.

Protein: Protein is one of the building blocks of bones. However, there is conflicting evidence on the effect of protein intake on bone density. Most people eat a lot of protein in their diet, but some don’t. Vegetarians and vegans can deliberately get enough protein in their diet if they want adequate sources such as soy, nuts, legumes, seeds for vegetarians and vegans, and dairy and eggs for vegetarians.

Older people can eat less protein for a number of reasons. If you think you are not getting enough protein, ask your doctor if supplementation is an option.

Bodyweight: Being underweight increases your risk of bone loss and fractures. Being overweight now increases your risk of arm and wrist fractures. Therefore, maintaining appropriate body weight is good for your bones, as well as your overall health.

Calcium: Women between the ages of 18 and 50 need 1,000 milligrams of calcium per day. This daily increase to 1,200 milligrams when women turn 50 and men turn 70.

  • Good sources of calcium
  • Low-fat dairy products
  • Dark green leafy vegetables
  • Canned salmon or sardines with bones
  • Soy products like tofu
  • Calcium-fortified whole grains and orange juice

If you find it difficult to get enough calcium from your diet, consider taking calcium supplements. However, too much calcium is associated with kidney stones. Although it is not yet clear, some experts suggest that calcium may increase the risk of heart disease, especially in supplements.

The Department of Health and Medicine of the National Academy of Sciences, Engineering, and Medicine (formerly Institute of Medicine) recommends that total calcium intake, including supplements and diet, should not exceed 2,000 milligrams per day for those over 50 years.

Vitamin D: Vitamin D improves your body’s ability to absorb calcium and improves bone health in other ways. People can get some of their vitamin D from sunlight, but it is not a good source if you live in high latitude, are at home, or use sunscreen regularly, or avoid the sun due to the risk of skin cancer.

To get enough vitamin D to maintain bone health, it is recommended that adults ages 51 to 70 take 600 international units (IU) and 800 IU after age 70 through diet or supplements. Those who have no other sources of vitamin D and especially those with limited sunlight need supplementation. Most multivitamin products contain 600 to 800 IU of vitamin D. Up to 4,000 IU of vitamin D per day is safe for most people.

Exercise: Exercise can help you build strong bones and slow them down. Exercise can benefit your bones when you start out, but there are many benefits to you if you start exercising regularly as a child and continue to exercise throughout your life.

Combine strength training exercises with weight lifting and balance exercises. Strength training can help strengthen the muscles and bones in your arms and upper spine. Weight-bearing exercises (walking, jogging, running, stair climbing, rope skiing, skiing, and impact sports) primarily affect the legs, hips, and backbones.

Balance exercises like tai chi reduce the risk of falls, especially as you age. Swimming, cycling, and exercising on machines like ellipticals provide good cardiovascular exercise, but they do not improve bone health.

General Topics

Symptoms of Thyroid Diseases in Women | Endocrinology

What is the thyroid?

Thyroid disease affects the thyroid gland, a small butterfly-shaped gland at the base of your neck, below Adam’s apple. This gland produces thyroid hormone that travels in your blood to all parts of your body. Thyroid hormone panels your body’s metabolism in many ways, including how fast you burn calories and how fast your heartbeats.

How does thyroid disease affect women?

Women are more probable than men to have thyroid disease. One in eight women will develop thyroid problems in her lifetime. In women, thyroid disease can cause:

  • Problems with your menstrual period. Your thyroid helps control your menstrual cycle. Too ample or too little thyroid hormone can make your periods very light, heavy, or irregular. Thyroid disease can also cause your periods to stop for numerous months or more, a condition called amenorrhea. If your body’s immune system causes thyroid disease, other glands, with the ovaries, may be involved. This can main to early menopause (before age 40).
  • Trouble receiving pregnancy When thyroid disease affects the menstrual cycle, it also affects ovulation. This can make it difficult for you to get pregnant.
  • Problems during pregnancy. Thyroid problems during pregnancy can cause health glitches for mother and baby.
  • Sometimes the symptoms of thyroid problems are confused with those of menopause. Thyroid disease, especially hypothyroidism, is more probable to develop after menopause.

Causes of thyroid disease in women

All types of hyperthyroidism are due to an overproduction of thyroid hormones, but the condition can occur in a number of ways:

Graves’ disease: Production of too much thyroid hormone.

Toxic adenomas: Nodules develop in the thyroid gland and begin to secrete thyroid hormones, upsetting the chemical balance of the body, some goiters may contain several of these nodules.

Subacute thyroiditis: Inflammation of the thyroid causes the gland to “lose” excess hormones, resulting in temporary hyperthyroidism that usually lasts for a few weeks but can persist for months.

Malfunction of the pituitary gland or cancerous growths in the thyroid gland: Although rare, hyperthyroidism can also develop from these causes.

Hypothyroidism, on the other hand, is due to an underproduction of thyroid hormones. Since your body’s energy production requires certain amounts of thyroid hormones, a decrease in hormone production leads to lower energy levels. The causes of hypothyroidism include:

Hashimoto’s thyroiditis: In this autoimmune disorder, the body attacks the thyroid tissue. The tissue eventually dies and stops producing hormones.

Thyroid gland removal: The thyroid may have been surgically removed or chemically destroyed.

Exposure to excessive quantities of iodide: Cold and sinus medications, heart medication amiodarone, or certain contrast dyes given before some X-rays can expose you to too much iodine. You may have a higher risk of developing hypothyroidism if you have had thyroid problems in the past.

Lithium: This drug has also been concerned as a cause of hypothyroidism.

Symptoms of thyroid disease in women

There are a variety of symptoms that you might experience if you have thyroid disease. Unfortunately, the symptoms of a thyroid condition are often very similar to the signs of other medical conditions and stages of life. This can make it difficult to know if your symptoms are related to a thyroid problem or something else entirely.

For the most part, the symptoms of thyroid disease can be alienated into two groups, those related to having too much thyroid hormone (hyperthyroidism) and those related to having too little thyroid hormone (hypothyroidism).

Symptoms of an overactive thyroid (hyperthyroidism) can include:

  • Experiencing anxiety, irritability, and nervousness
  • Having trouble sleeping
  • Lose weight
  • Have an enlarged thyroid gland or goiter
  • Have muscle weakness and tremors
  • Having irregular menstrual periods or stopping your menstrual cycle
  • The sensation of sensitivity to heat
  • Have vision problems or eye irritation

Symptoms of an underactive thyroid (hypothyroidism) can include:

  • Feeling tired (fatigue)
  • Winning weight.
  • Experience oblivion
  • Have frequent and heavy menstrual periods
  • Have dry and rough hair
  • Have a hoarse voice
  • Experiencing intolerance to low temperatures

Who is affected by thyroid disease?

Thyroid disease can affect anyone. Men, women, infants, adolescents, and the elderly. It can be present at birth (typically hypothyroidism) and can mature with age (often after menopause in women).

Thyroid disease is very common, and an assessed 20 million people in the United States have some type of thyroid disorder. A woman is five to eight times more likely to be diagnosed with thyroid disease than a man.

You may be at higher risk of developing thyroid disease if:

  • You have family antiquity of thyroid disease
  • You have a medical condition (which may include pernicious anemia, type 1 diabetes, primary adrenal insufficiency, lupus, rheumatoid arthritis, Sjögren’s syndrome, and Turner’s syndrome)
  • Take medicine that is high in iodine (amiodarone)
  • They are over 60 years old, especially in women
  • You have had treatment for a thyroid condition or cancer in the past (thyroidectomy or radiation)

Risk factors of thyroid disease in women

Risk factors include:

  • Family history: Having a family member with autoimmune thyroid disease
  • Age: Hypothyroidism can start at any age, but the risk continues to increase as people age
  • Gender: Hypothyroidism is more common in women than in men. It is much more communal in new women than young men, but as men get older, they start to catch up
  • Race: Hypothyroidism is common in Caucasians and Asians. African Americans are at lower risk
  • Presence of other autoimmune disorders
  • Down syndrome or Turner syndrome

Thyroid disease after pregnancy

  • Up to 1 in 10 women develop postpartum thyroiditis, an inflammation of the thyroid several months after giving birth.
  • When the thyroid becomes inflamed, it can leak hormones, making it slightly hyperthyroid (when the gland overproduces thyroid hormone).
  • Then when you run out of thyroid hormone, you can develop hypothyroidism until your gland heals.
  • The symptoms can be very subtle. Some women lose weight; others feel anxious.
  • You could blame these things on being a new mom. But if the diagnosis is missed, it is generally not critical. If it’s really mild, just look at it. In most women, it all resolves in several months.
  • If it’s severe, you may need treatment for symptoms.
  • In most women, the hyperthyroid and hypothyroid phases last for several weeks.
  • But not all women experience both phases. About 5% of women will be left-hand with permanent hypothyroidism.
  • It tends to recur in later pregnancies and is also more common in women with autoimmune diseases.

Treatment for thyroid disease

You take a synthetic version of thyroid hormone in a pill to replace what your body doesn’t make.

Diagnosis of thyroid disease

In addition to a complete medical history and physical exam, specialized tests are used to diagnose thyroid disorders. Blood tests are usually done to measure the levels of thyroid hormones and TSH. Your doctor may also order blood tests to identify antibodies against thyroid tissue, such as antithyroglobulin, anti thyroperoxidase, or TSH receptor stimulant antibody titers.

Imaging tests are commonly used when there are thyroid nodules or enlargement. Ultrasound can visualize the constancy of the tissue within the gland and can often reveal cysts or calcifications. Ultrasound examination cannot distinguish a benign process from a malignant one.

Radioactive iodine scans of the thyroid are often done to evaluate the function of thyroid nodules. The thyroid is the only place in the body that absorbs iodine, so when radiolabelled iodine is administered, it is absorbed by the thyroid gland. An imaging test typically shows radioactive iodine uptake by normal thyroid tissue.

Areas or nodules that produce excess hormones (known as hyperfunction) will show increased absorption of iodine. These are known as nodules or “hot” areas. In contrast, so-called “cold” nodules represent areas with decreased iodine uptake. The “cold” nodules do not produce excess hormones and can sometimes represent cancer.

Fine needle aspiration and biopsy are techniques that remove a taster of cells or tissue from the thyroid gland for inspection and diagnosis by a pathologist, who is a physician trained in the diagnosis of conditions based on tissue samples. Fine needle aspiration (FNA) uses a long, thin needle to remove a sample of cells from the thyroid. FNA can be done in the doctor’s office. Sometimes ultrasound images are used to guide the FNA procedure. A biopsy is the surgical sampling of tissue.

General Topics

Types of Adrenal Disease and Health | Endocrinology

What are adrenal disease and health?

Adrenal disease and health, also known as adrenal insufficiency, is an abnormal disorder that occurs when your body does not make enough hormones. In Addison’s disease, the adrenal glands above the kidneys produce very little cortisol and often very little aldosterone.

The adrenal disease occurs in all ages and in both sexes and can be fatal. Treatment consists of taking hormones to replace the missing ones. The adrenal gland consists of two parts: the outer part is called the adrenal cortex and the inner part is called the adrenal medulla.

The function of the adrenal glands

The two parts of the adrenal glands, namely the adrenal cortex and the adrenal medulla, perform different functions. The adrenal cortex produces glucocorticoids (ie, cortisol), mineral corticosteroids (aldosterone), and androgens (DHEA and androstenedione). The hormone cortisol, which is essential for life, has important effects on the heart, blood pressure, immune system, metabolism, bones, and nervous system.

Both cortisol deficiency and overproduction can cause major problems. Aldosterone is necessary for fluid and electrolyte (salt) balance and has additional clinical consequences. Adrenal androgen hormones mainly cause problems when overproduction occurs in women. The medulla is responsible for producing epinephrine and norepinephrine (adrenaline) with effects on blood pressure, heart, and metabolism. The problems are due to excessive spinal function.

Regulation of hormones of the adrenal glands

Cortisol is secreted by the adrenal glands in response to circadian and stress-induced stimuli by adrenocorticotropic hormone (ACTH) secreted by the pituitary gland. The pituitary gland is the “master” gland of the endocrine system at the base of the brain. Aldosterone secretion is regulated by a system called renin-angiotensin and by potassium, but the pituitary gland is only a small modulator.

In summary, adrenal gland disorders, adrenal insufficiency (secretion deficiency, especially cortisol), overproduction of adrenal hormones mainly adrenal tumors (pheochromocytoma, aldosteronism, androgen-producing tumors), and other adrenal glands that do not produce overproduction of hormones. Adrenal cancer and metastasis

Adrenal cancer (primary adrenal carcinoma) is a rare and aggressive form of cancer in which cancer cells are found in the adrenal cortex, the outer layer of the adrenal gland.

Types of adrenal gland disorders

There are many types of adrenal gland disorders, which are the following:

Adrenal gland tumors

Most adrenal gland tumors (abnormal growths in the adrenal glands) are not cancerous. They often do not cause symptoms or require treatment. However, adrenal gland tumors can produce a wide variety of hormones, and hormone levels can be very high.

Carcinoma of the adrenal cortex

It is a cancerous adrenal tumor that develops in the outer layer of the adrenal gland. Cancerous adrenal tumors usually appear a few years after they begin to grow, during which time cancer has spread to other organs.

Cushing’s syndrome

Cushing’s syndrome is a rare disease caused by an excess of the hormone cortisol in the body. In some cases, Cushing’s syndrome develops from the chronic use of steroid drugs (drugs that act like cortisol in the body). In other cases, the body also makes more cortisol. This overproduction occurs for several reasons, including the presence of tumors (abnormal growth):

  • Pituitary gland tumor
  • Adrenal gland tumor
  • Tumor in another part of the body (these are called “ectopic” tumors and are most often found in the pancreas, lungs, or thyroid gland).

Congenital adrenal hyperplasia (CAH)

CAH is a common genetic disorder in which the body makes too little cortisol. People with CAH can also have other hormonal imbalances. For example, their bodies may not make enough aldosterone (which regulates blood pressure and levels of body salt and potassium), but they can make more androgens (which promote the development of male sex organs).

Pituitary gland

The pituitary gland is located at the base of the brain. Releases hormones that affect many functions of the body. Among these hormones is the adrenocorticotropic hormone (ACTH), which stimulates the adrenal glands to release the hormone cortisol.

Sometimes benign (non-cancerous) pituitary tumors or, very rarely, cancerous tumors, can grow in the pituitary gland and cause a variety of complications. Some pituitary tumors release more ACTH, which causes the adrenal glands to make more cortisol. Cushing’s disease refers to the pituitary tumors that cause Cushing’s syndrome.


Pheochromocytomas are part of a family of large tumors called paragangliomas. Pheochromocytoma is a tumor that develops in the adrenal medulla, the inner part of the adrenal gland. It produces adrenaline, which causes the body to overproduce this hormone. In most cases, the tumors are not cancerous and do not spread to other parts of the body. But in about 10% of cases, the tumors become cancerous and spread.

Adrenal gland suppression

When people take steroid drugs (drugs that act like cortisol in the body) such as prednisone, hydrocortisone, or dexamethasone they can suppress or reduce the normal activity of the adrenal glands. Steroid medications, usually prednisone, are prescribed to treat certain types of arthritis, severe allergic reactions, asthma, autoimmune diseases, and other conditions.

In general, anyone taking steroids will gradually take lower and lower doses, over time until they stop taking the drug completely. This is called a “cap” dose. When steroid medications are stopped abruptly, especially after several weeks or more, the adrenal glands may not be able to produce adequate amounts of steroid hormones (especially cortisol) for weeks or months. This condition can cause health problems due to an imbalance in hormone levels until the adrenal glands begin to function.

Symptoms of adrenal diseases

Some common symptoms of adrenal diseases are:

  • Fear
  • Chronic fatigue
  • Digestive problems
  • Aches and pains
  • Mild headache
  • Low blood pressure
  • Weight Loss
  • Hair loss

Adrenal disease is also associated with adrenal insufficiency. Symptoms of adrenal insufficiency:

  • Chronic fatigue
  • Lack of appetite
  • Abdominal pain
  • Muscular weakness
  • Unexplained weight loss

In more severe cases of adrenal disease, you may experience:

  • Disappointment
  • Nausea
  • Vomiting
  • Diarrhea
  • Low blood pressure
  • Hyperpigmentation
  • Foods to avoid

If you decide to try a healthy adrenal gland diet, doctors recommend limiting foods and beverages high in refined and processed sugar and unhealthy fats while maintaining blood sugar.

Some foods to avoid:

  • White sugar
  • White flour
  • Alcohol
  • Caffeine
  • soda
  • Fried food
  • Processed foods
  • Fast food
  • Artificial sweeteners
  • Mealtime is also important. Helps control blood sugar and adrenal glands.
  • It helps to eat breakfast and eat regularly throughout the day. Skipping breakfast and lunch will force your body to burn stored nutrients and lower your energy levels.
  • By eating balanced meals and healthy snacks on a regular basis, you can maintain your energy and cortisol levels throughout the day.
  • Food to eat
  • A well-balanced diet is the best way to keep your body healthy and regulate your sugar levels. Doctors recommend balancing protein, healthy fats, and high-quality, nutrient-rich carbohydrates.
  • Increase your vegetable intake to get the necessary amount of vitamins and minerals. Also, foods high in vitamin C, vitamin B (especially B-5 and B-6), and magnesium can help keep the adrenal glands healthy.

Some foods to eat on the adrenal fat diet:

  • Fine meats
  • Fish
  • Eggs
  • Vegetables
  • Walnuts
  • Vegetables and collard greens
  • Cereals
  • Milk
  • Low sugar fruits
  • Sea salt is moderate
  • Healthy fats like olive oil, coconut oil, and grapeseed oil
  • Boiling is also important. Dehydration affects your stress levels and forces your adrenal glands to produce cortisol.

Causes of adrenal diseases

Damage to the adrenal glands causes adrenal disease, which results in a deficiency of the hormone cortisol, and often not enough aldosterone. Your adrenal glands are part of your endocrine system. They produce hormones that give instructions to virtually every organ and tissue in your body.

Your adrenal glands are made up of two sections. The interior (medulla) produces hormones such as adrenaline. The outer layer (cortex) produces a group of hormones called corticosteroids. Corticosteroids:

Glucocorticoids: These hormones, which contain cortisol, affect your body’s ability to convert food into energy, play a role in your immune system’s inflammatory response, and help your body respond to stress.

Mineral corticosteroids: These hormones, which contain aldosterone, help maintain your body’s sodium and potassium balance to maintain normal blood pressure.

Androgens: These male sex hormones are produced in small amounts by the adrenal glands in both men and women. They cause sexual development in men and affect muscle mass, sex drive (libido), and feelings of well-being in both men and women.

Primary adrenal insufficiency: When the cortex is damaged and does not produce enough adrenocortical hormones, this condition is called primary adrenal insufficiency. It is the result of an attack on the body (an autoimmune disease). For unknown reasons, your immune system sees the adrenal cortex as something foreign, something to attack and destroy. People with Addison’s disease are more likely to have another autoimmune disease than others.

Other causes of the adrenal disease include:

  • Tuberculosis
  • Other adrenal gland infections
  • Spread of cancer to the adrenal glands
  • Bleeding in the adrenal glands, In this case, you may have an Addisonian crisis with no previous symptoms.

Secondary adrenal insufficiency: The pituitary gland produces a hormone called adrenocorticotropic hormone (ACTH). ACTH stimulates the adrenal cortex to produce its hormones. Benign pituitary tumors, inflammation, and pre-pituitary surgery are common causes of insufficient production of pituitary hormones.

Even if your adrenal glands are not damaged, too little ACTH leads to the glucocorticoids and androgens that your adrenal glands normally produce. This is called secondary adrenal insufficiency. The production of mineral corticosteroids is not affected by very low levels of ACTH.

Many of the symptoms of secondary adrenal insufficiency are similar to the symptoms of primary adrenal insufficiency. However, people with secondary adrenal insufficiency do not have hyperpigmentation and are less likely to develop severe dehydration or low blood pressure. They are more likely to have low blood sugar levels.

People taking corticosteroids (eg, Prednisone) to treat chronic conditions such as asthma or arthritis may have a temporary cause of secondary adrenal insufficiency when they stop taking corticosteroids all at once instead of using the tape.

Diagnosis of adrenal diseases

Your doctor will first talk to you about your medical history and your signs and symptoms. You will be subjected to some of the following tests:

Blood test: The tests can measure your blood levels of sodium, potassium, cortisol, and adrenocorticotropic hormone (ACTH), which stimulate the adrenal cortex to produce its hormones. A blood test can also measure the antibodies associated with autoimmune Addison’s disease.

ACTH stimulation test: ACTH refers to the adrenal glands producing cortisol. This test measures the level of cortisol in your blood before and after a synthetic ACTH injection.

Insulin-induced hypoglycemia test: Doctors may do this test if they think you have adrenal insufficiency as a result of pituitary disease (secondary adrenal insufficiency). The test will check your blood sugar (blood glucose) and cortisol levels after taking insulin. In healthy individuals, glucose levels drop and cortisol levels rise.

In some cases, doctors may perform alternative tests for secondary adrenal insufficiencies, such as a low-dose ACTH stimulation test, a chronic ACTH stimulation test, or a glucagon stimulation test.

Imaging tests: A computed tomography (CT) scan of your abdomen may be done to check the size of your adrenal glands and look for other abnormalities. You may have an MRI of the pituitary gland if the test indicates that you have a secondary adrenal defect.

Treatment of adrenal diseases

All treatment for adrenal disease includes medication. Hormone replacement therapy will be given to correct the levels of steroid hormones that your body does not make. Some treatment options include oral corticosteroids:

  • Cortisol is replaced by hydrocortisone (Cortef), prednisone, or methylprednisolone. These hormones are given on a schedule to mimic the normal 24-hour fluctuations in cortisol levels.
  • Fluidrocortisone acetate instead of aldosterone.
  • You should get a lot of salt (sodium) in your diet, especially when you’re exercising a lot when it’s hot, or if you have gastrointestinal problems like diarrhea.
  • Your doctor may also prescribe a temporary increase in your dose of action if your body is stressed, such as during an operation, infection, or minor illness. If you are vomiting and cannot reduce oral reactions, you may need corticosteroid injections.

Other treatment recommendations for the adrenal disease include:

  • Carry a medical alert card and bracelet with you at all times. The Steroid Emergency Card and Medical Alert ID will tell emergency medical personnel what kind of care they need. Also, include a written action plan.
  • Keep extra medications easy. It is dangerous to miss even one day of medication, so carry a small amount of medication with you when you travel.
  • Bring a glucocorticoid injection kit. The injection form of the needle, the syringe, and the corticosteroids in the kit are used in emergency cases.
  • Stay in touch with your doctor. Maintain an ongoing relationship with your doctor to make sure the dose of hormone replacement hormones is adequate, but not excessive. If you have ongoing problems with your medication, you may need to adjust your medication dose or schedule.
  • Carry out annual checks. See your doctor or endocrinologist once a year. Your doctor may recommend annual checkups for many autoimmune diseases.

Treatment for an Addison crisis, which is a medical emergency, usually involves intravenous injections:

  • Corticosteroids
  • Saltwater
  • Sugar (dextrose)
  • Future treatments

Researchers are working to develop a late-release corticosteroid that works like a human body. They also work with pumps placed under the skin, which can deliver steroids in more precise doses.

The use of adrenocortical stem cells in combination with immunomodulatory therapy at the end of future treatment, modifying the immune response of the immune system, as well as gene therapy.



Symptoms and Causes of Swollen Eyelid | Ophthalmology

What is a swollen eyelid?

A swollen eyelid is more than just a cosmetic irritation. This can be scary, especially if the swelling is severe and can interfere with a person’s ability to see. Inflammation of the eyelids from infection arises from infection of the eyelid, which is triggered by an infected wound, chalazion, or conjunctivitis.

Inflammation of the eyelids can also be caused by an infection that spreads to the eye area from elsewhere, such as the sinus or sinus cavities. Infection of the eye and surrounding tissues is very serious and requires antibiotics to kill bacteria and protect the eye. Eyelid swelling and general swelling (edema) can be a sign of a serious condition, you should speak to your healthcare provider about your symptoms.

Fever, vision problems (such as blurred vision), abnormal eye movements (or loss of mobility), bulging of the eye (swelling), or signs of anaphylactic shock (swollen tongue and throat, skin rash, and trouble breathing). Most causes of puffy eyelids are harmless, but minor problems can be very serious. So if a person has swollen eyelids, it is recommended that an optometrist or ophthalmologist take care of them.

Symptoms of a swollen eyelid

Inflammation of the eyelids is a symptom of an underlying cause, such as an allergy or infection. Puffy eyes usually have one or more of the following:

  • A swollen eyelid can be a symptom of an allergy or a sign of a serious eye infection
  • Eye irritation, itching, or scratching
  • Sensitivity to light (photophobia)
  • Excessive tear production, resulting in watery eyes
  • Impaired vision (depending on the degree of inflammation)
  • Eyelid redness
  • Red-eye inflammation and conjunctivitis
  • Eye discharge
  • Dry or scaly eyelids
  • Pain, especially when the swollen eyelids are caused by an infection

Here are some common symptoms of puffy eyelids:

  • Itchy eyes: Your swollen eyelids can be the result of allergies. Most often, itchy eyes are caused by certain types of allergies. An irritating substance, such as pollen, dust, and animal dander, releases compounds called histamines into the tissues around the eyes, causing itching, redness, and swelling.
  • Sensitivity to light: Your eyelids may swell in response to photophobia or sensitivity to light, which is intolerance of light. Sources such as sunlight, fluorescent light, and incandescent light can cause discomfort, requiring you to disperse or close your eyes. The headache can also be accompanied by sensitivity to light.
  • Tears in the eyes: The swelling of the eyes causes swelling of the eyelids. The chronic irritation of dry eye syndrome is caused by the excessive production of tear water, which is produced by the glands behind the upper eyelid (lacrimal glands).
  • Red eyes: Your swollen eyelids may be due to redness in your eyes. Red or bloody eyes are very common and have many causes. Red eyes are often a symptom of other eye conditions, ranging from benign to severe.
  • Eye discharge: Eye discharge or “sleepy” eyes can cause eyelid inflammation. Eye discharge is a combination of mucus, oil, skin cells, and other debris that collects in the corner of your eye when you sleep. It can be wet and sticky or dry and crusty depending on how much liquid in the discharge has evaporated.
  • Dry eyes: Dry eye syndrome can cause many problems, including swollen eyelids. Dry eye syndrome is caused by a lack of adequate lubrication and moisture on the surface of the eye. The consequences of dry eyes range from subtle but persistent eye irritation to significant inflammation and scarring of the front surface of the eye.
  • Eye pain: Eye pain is often accompanied by blurred vision, redness (bloodshot eyes), sensitivity to light, and swelling of the eyelids. Eye pain is a general phrase to describe discomfort around, behind, behind, or around the eye.

Causes of a swollen eyelid

Swollen eyelids are common. Causes range from fluid retention to severe infection. In most cases, the swelling goes away within 24 hours. You can reduce the inflammation with compresses, but how you treat swollen eyelids also depends on the cause.

Puffy eyelids are often a symptom of another medical condition, including:

  • Allergies
  • Inflamed eyelids (blepharitis)
  • Conjunctivitis
  • Herpes
  • Ovarian gland (chalazion) on your eyelid
  • Eyelid infection)
  • Infection around the eye socket (orbital cellulitis)
  • Thyroid conditions like Graves’ disease

Some medical conditions can also cause symptoms of eye or eyelid inflammation. Although rare, it includes Graves disease and eye cancer. To prevent complications, see an eye doctor if the swelling lasts longer than 24 to 48 hours.

Treatment for swollen eyelids

If your eyelids are sore or soft to the touch, the cause is an infection, cyst, or blemish. It is important to identify the cause of your swollen eyelid, as treatment options depend on the cause.

Cyst: If your upper or lower eyelid is inflamed, it may be due to a cyst or chalazion. A chalazion usually swells in the middle of the eyelid. These cysts can take a few weeks to disappear, and some can turn into a hard lump.

For relief, place a warm damp cloth over your eye. The heat helps secrete oil and clog. You can do this four to six times a day. If the cyst is delayed, see your doctor. They will help you drain it.

Stye: A sting is caused by a small infection at the base of the eyelid near the hair. It can be internal or external, but it often appears as a well-defined red bump. Once the pus from the stay is released, your eye usually heals.

You can use a warm compress to soothe and promote healing. It usually takes a few weeks to go away. Avoid wearing makeup only when you have a style, as it can cause reinfection.

Pink eye: Conjunctivitis is caused by a bacterial, viral, or allergic infection that causes inflammation on the surface of the eye. It can start in one eye and spread to both. Pus or a sticky coating often appears on the hair and in the corners of the eyes.

You can clean sticky and crusty eyelids with warm water and cotton. The eye improves without treatment. At this point, avoid touching your eyes and keep the pillowcases clean. You may also want to stop wearing cosmetics and contact lenses.

What to do if it is an infection

An infection on the skin is called cellulitis. The skin around the eyes may become red and painful. You will need antibiotics to relieve this inflammation. Cellulite usually affects the legs, but it can occur anywhere.

Symptoms that indicate the need for emergency treatment:

  • Maximum temperature
  • Nausea
  • Dizziness
  • Shake
  • Confusion
  • Vision changes or double vision
  • The eye could not move

For mild eyelid swelling, here are some remedies you can try at home:

  • Wash and rinse the skin around your eyelids (baby shampoo mixed with water works well, or you can purchase eyelid ‘scrub’ pads); gently pat dry.
  • Use sterile saline or artificial tears to rinse your eyes.
  • Apply cool compresses, including cold (caffeinated) teabags. Caffeine constricts the tiny blood vessels in your eyes and eyelids, which helps reduce fluid leakage and puffy eyelids (edema).
  • Rest and sleep with your head elevated. This will help drain fluids away from your eyelids and surrounding tissues.
  • Do not wear contact lenses until your eyelid swelling goes away. It’s possible to have an allergy to the contact lens material, so consider that possibility if swelling resolves when you are not wearing the lenses.
  • For styles and chalazia, use hot compresses for 5 to 10 minutes a few times a day, along with medicine your doctor prescribes for infection or inflammation.

Prevention of the Swollen eyelid

Prevention of eyelid inflammation depends on the cause.

Allergies: Common Cause of Swollen Eyelids-Allergies-Allergy Medications Taking the medication on a daily basis can help prevent symptoms. Do not rub your eyes; Inflammation increases. If eyelid swelling occurs frequently, check with an allergy test to determine which allergy you have. Once you identify the exact allergens, you can avoid them. Use hypoallergenic cosmetic and facial products. If you occasionally use eye drops for redness and your eyes and lids become irritated, use preservative-free eye drops as the preservative can irritate the eyes. You can buy single-use artificial tears. Also, some people are allergic to contact lens material, especially silicone lenses. Talk to your optometrist if you think your contacts are guilty.

Causes of Infections: Cleaning your eyelids twice a day with a mild cleanser (try mixing baby shampoo with water) can help prevent infection and inflammation of the eyelids. If you wear eye makeup, do not share it with anyone. Treating eyelid conditions with home remedies and any medications prescribed by your doctor can help reduce eyelid inflammation.

Fluid retention: For causes related to edema, you can prevent eyelid swelling by drinking plenty of water and following a low-salt diet as prescribed by your doctor. Drinking alcohol increases edema, so cutting back can help prevent swelling. Inflammation can be controlled by treating an underlying condition, such as kidney disease. Sleeping with your head elevated removes excess fluid from the delicate eye tissue, reducing the appearance of puffy eyes upon waking.


Congenital Adrenal Hyperplasia (CAH) – an Overview | Endocrinology

What is congenital adrenal hyperplasia?

Congenital adrenal hyperplasia (CAH) refers to a group of genetic defects that affect the adrenal glands of walnut-sized organs above the kidneys. The adrenal glands produce important hormones, including:

  • Cortisol, which regulates the body’s response to illness or stress.
  • Mineral corticosteroids such as aldosterone that regulate sodium and potassium levels
  • Androgens like testosterone are male sex hormones
  • In people with CAH, a genetic problem causes a lack of one of the enzymes needed to make these hormones.
  • Even without treatment, with proper treatment, most people with congenital adrenal hyperplasia can lead normal lives.

There are two main types of congenital adrenal hyperplasia:

  • Classic CAH: This form is very rare and is usually found in childhood. Two-thirds of people with classic CAH call it the salt-losing form, while one-third call it the normal virilizing form.
  • Non-classical CAH: This form is mild and common, and may not be apparent until childhood or adolescence.

Types of congenital adrenal hyperplasia

Classic CAH

According to the National Adrenal Disease Foundation, classic CAH accounts for 95 per cent of all CAH cases. It occurs mainly in babies and young children. The adrenal glands produce cortisol and aldosterone with the help of an enzyme commonly known as 21-hydroxylase. Classic CAH does not have this enzyme, which means that your adrenal glands cannot make these hormones.

Also, your body begins to produce more male sex hormone called testosterone. It can appear in girls with masculine features and develop early in boys. These characteristics are:

  • Be tall for your age
  • Have a deep tone
  • Early growth of pubic or armpit hair
  • CAH in childhood can make you taller than other children, and as an adult, you may be slightly shorter than average.

Nonclassic or late-onset CAH

Nonclassic or late-onset CAH is a mild type that occurs in older children and adolescents. This type is caused by a partial enzyme deficiency rather than a complete absence of the enzyme. If you have this type of CAH, your adrenal glands can make aldosterone, but not enough cortisol. Testosterone levels are also lower in late-onset CAH.

Rare forms

There are other types of CAH, but they are very rare. These include deficiencies of 11-beta-hydroxylase, 17-alpha-hydroxylase, and 3-beta-hydroxysteroid dehydrogenase

Symptoms of congenital adrenal hyperplasia

The signs and symptoms of CAH vary depending on the defective gene and the level of the enzyme defect.

Classic CAH

Girls with classic CAH may have a condition called dark genitalia, in which the vagina expands or the genitals look like boys. Male babies with classic CAH have normal genitalia. Male and female babies are severely affected by a lack of cortisol, aldosterone, or both. This is called an adrenal crisis and it can be fatal.

The salt-wasting form and classic form of virilization of classic CAH cause children’s bodies to produce enough cortisol. These children have trouble maintaining normal blood pressure, blood sugar, and energy levels and are more prone to stress. Excess male sex hormones lead to shorter stature and early puberty in both boys and girls.

Signs and symptoms of classic CAH in children and adults:

  • The appearance of pubic hair at a very young age.
  • Rapid growth in childhood, but lower than average final height

Non-classical CAH

Non-classical CAH symptoms often do not appear when the baby is born. This condition is not detected in a regular infant blood test and is usually evident in late childhood or early adulthood. Cortisol may be the only hormone deficient.

Adolescent and adult women with nonclassic CAH may have normal genitalia at birth, but later in life, they may experience:

  • Irregular or absent period
  • Male traits such as facial hair, tall body hair, and deep voice
  • Sharp pimples

In both men and women, there may be signs of non-classical CAH:

  • The early appearance of pubic hair
  • Predicts rapid growth in childhood, developed bone age, and short final stature

Congenital adrenal hyperplasia causes

The most common cause of CAH is the lack of an enzyme called 21-hydroxylase. CAH is sometimes called a 21-hydroxylase deficiency. Other very rare enzyme deficiencies cause CAH.

Children with this condition have two parents, who either have CAH or are carriers of the genetic mutation that causes this condition. This is called an autosomal recessive inheritance pattern.

Congenital adrenal hyperplasia risk factors

Factors that increase the risk of CAH:

  • Both parents have CAH or both are carriers of the genetic defect of the disorder.
  • Ashkenazi has some ethnic heritage, such as Jewish, but Hispanic, Italian, Yugoslav, and Yupik Inuit

How is congenital adrenal hyperplasia diagnosed?

A prenatal ultrasound can detect CAH before a baby is born. But it is generally congenital or based on symptoms (such as abnormally visible genitalia) or US Newborn screening performed on all newborns is suspected based on the results of blood tests.

A pediatric endocrinologist will usually check that the baby does not have adrenal enzymes and prescribe treatment.

Tests to help diagnose CAH or guide treatment may include:

  • Blood tests to check adrenal hormone levels.
  • Blood Chemistry to Check for High Sodium and Potassium Levels in Children with CAH Salt Loss
  • Karyotype to determine chromosomal sex
  • Imaging tests (such as an ultrasound study) to learn more about genital anatomy
  • X-rays to see how fast the bones are maturing

In infancy or later diagnosis may include:

  • History and physical exam
  • Blood test
  • Genetic testing

Sometimes when a family history of CAH is known, the fetus is diagnosed before birth. The experimental prenatal treatment of CAH is a controversial experiment and experts recommend that it be done only in the context of an approved clinical trial.

Treatment of congenital adrenal hyperplasia

Your doctor will refer your child to a doctor who specializes in pediatric hormonal problems (pediatric endocrinologist) for the treatment of CAH. The healthcare team may also include other professionals such as urologists, psychologists, and geneticists. 


The goal of treating congenital adrenal hyperplasia with medication is to reduce the production of excess androgens and replace the defective hormones. People with the classic form of CAH can successfully manage the condition through hormone replacement therapy for the rest of their lives. People with nonclassical CAH may not need treatment or only need a small dose of corticosteroids.

Medications for congenital adrenal hyperplasia are taken daily. During periods of significant stress, such as illness or surgery, additional medications or higher doses may be needed.

Medications can include:

  • Corticosteroids instead of cortisol
  • Mineral corticosteroids replace aldosterone to retain salt and remove excess potassium
  • Medicines with salt to retain salt.

Monitoring of the effects of Action is regularly scheduled:

  • Physical exams: The doctor will monitor your child’s growth and development, including monitoring changes in height, weight, blood pressure, and bone growth.
  • Side effect monitoring: The doctor will monitor your child for side effects such as bone loss and growth retardation, especially if the dose of the steroid-type replacement medication is high and if it is used chronically.
  • Blood tests to check hormone levels: Regular blood tests are essential to ensure hormone levels are in balance. Boys who have not yet reached puberty need enough cortisone to suppress androgens so that they can reach normal heights. For women with congenital adrenal hyperplasia, it is important to suppress androgens to reduce unwanted male symptoms. On the other hand, too much cortisone can cause Cushing’s syndrome.

Reconstructive surgery

  • For some girls who have very blurry genitalia as a result of classic CAH, doctors may recommend reconstructive surgery to improve genital function and make them look more feminine.
  • Surgery may include reducing the size of the clitoris and rebuilding the vaginal opening. Surgery is usually done at 2 and 6 months of age. Women who have had reconstructive genital surgery may need more cosmetic surgery in the future.
  • Genital surgery is easier to do when the child is very young. However, some parents choose to wait for surgery until their child is old enough to understand the risks and choose their gender.
  • Before making decisions about the best treatment for your child, talk to your doctor about these issues. Working together, you and your doctor can select the information that will help your child’s development.
  • Psychological support is important for the mental health and social adjustment of girls with genital disabilities.

Prenatal treatment

Synthetic corticosteroids that cross the placenta are controversial and considered experimental. More research is needed to determine the safety and long-term effect of this treatment on fetal brain development.

Complications of congenital adrenal hyperplasia

People with classic CAH are at risk for an adrenal crisis because they have very low levels of cortisol in their blood. It can cause diarrhea, vomiting, dehydration, high blood sugar, and shock. Adrenal crisis is a life-threatening medical emergency that requires immediate treatment. Aldosterone can also below, leading to dehydration and low sodium and high potassium levels. The nonclassic form of congenital adrenal hyperplasia does not cause the adrenal crisis.

Men and women with classic or non-classic CAH also experience fertility problems.


There is no known way to prevent congenital adrenal hyperplasia. If you are thinking about starting a family and are at risk of having children with congenital adrenal hyperplasia, your doctor may recommend that you see a genetic counsellor.


Causes and Diagnosis of Fabry disease | Endocrinology

What is Fabry disease?

Fabry disease is hereditary. You can have various symptoms, such as pain in the hands and feet and a certain type of rash. When you have Fabry disease, a certain type of fat builds up in the cells of your body. It narrows the blood vessels, which can damage the skin, kidneys, heart, brain, and nervous system.

Your doctor will call Fabry disease a “storage disorder.” It usually begins in childhood and is more common in men than in women. There are treatments for how you feel on a daily basis. Getting the support of your family and friends is also very important.

Who gets Fabry disease?

People with Fabry disease inherit a mutated gene on the X chromosome from their parents. Males inherit an X chromosome from their mothers. Females have two X chromosomes, one from each parent. Parents can pass the faulty gene that causes Fabry disease to their children in a number of ways:

  • Parents pass their X chromosomes to all their daughters with defective gene.
  • All of these daughters have a genetic mutation that causes Fabry disease.
  • Children are not at risk because men inherit the Y chromosome (not the X chromosome) from their parents.
  • Mothers are 50% more likely to pass the affected X chromosome to their daughters or sons.
  • Some family members may have a genetic mutation, while others do not.

What are the types of Fabry disease?

Fabry disease types reflect a person’s age when symptoms first appear. Types:

  • Classic type: Symptoms of classic Fabry disease appear in childhood or adolescence. A distinctive symptom, a painful burning sensation in the hands and feet, can be noticed by the age of two. Symptoms gradually get worse over time.
  • Late-onset / typical type: People with late-onset Fabry disease have no symptoms until age 30 or older. The first sign of a problem may be kidney failure or heart disease.

How common is Fabry disease?

One in 40,000 men has classic Fabry disease. Late or typical Fabry disease is more common. It affects one in 1,500 to 4,000 men. Experts are not sure how many women have Fabry disease. Some women have no or mild to moderate symptoms, so this condition is usually not diagnosed in women.

Symptoms of Fabry disease

You may notice:

  • Exercise, fever, heat, or pain and burning in your arms and legs when you are tired
  • Small dark red spots usually appear between the belly button and the knees
  • Cloudy vision
  • Hearing loss
  • Ringing in the ears
  • Sweating less than usual
  • Stomach pain, bowel movements immediately after eating

Fabry disease can cause more serious problems, especially in men. These include:

  • Chance of having a heart attack or stroke
  • Severe kidney problems, including kidney failure
  • Hypertension
  • Heart failure
  • Dilated heart
  • Osteoporosis

What Causes Fabry Disease; Is genetic?

  • Fabry disease is a genetic disorder. A genetic disorder is caused by a mutation or change in a part of a person’s DNA.
  • In Fabry disease, the defective gene is on the X chromosome, one of the two sex chromosomes.
  • Sex chromosomes determine a person’s sex at birth. We all inherit one sex chromosome from each parent. While mothers travel only on the X chromosome, fathers can travel on the X or Y chromosome.
  • The chromosome sent by the father determines the sex of the offspring: females have two X chromosomes (XX) and males have one X chromosome and one Y chromosome (XY).
  • Fabry disease mainly affects men who receive an X chromosome with an abnormal gene.
  • Women with Fabry disease also receive an X chromosome with a defective gene; Since women have two X chromosomes, a common X chromosome provides some protection against developing the disorder.
  • Fabry disease is caused by a genetic mutation that results in a deficiency of an enzyme called alpha-galactosidase A (A-gal A). A genetic defect causes the body not to get enough of this enzyme, leading to the accumulation of fat called globotriaosylceramide (GB3 or GL-3) in the body.
  • Fabry disease is the result of what is known as X-linked inheritance, that is, a disease caused by a defect in the X chromosome. Genetic mutations linked to the X chromosome occur mainly in men and rarely in women.
  • If a mother carries a defective gene for Fabry disease, both men and women have a 50% chance of inheriting it from their mother. If the father is a carrier of the Fabry gene, the female offspring will inherit the defective gene, because the father will pass the X chromosome to them, but the male children with the Y chromosome will not.
  • Women who inherit a defective X chromosome are called carriers and can pass the genetic mutation on to their male offspring.

How is Fabry disease diagnosed?

Your healthcare provider may order tests to diagnose Fabry disease, including:

  • Enzyme test: This test measures alpha-GAL enzymes in the blood. Measurements of 1% or less indicate disease. This test is very reliable for men and should not be used for women.
  • Gene: Since women with this disease have normal levels of alpha-GAL enzymes, providers use genetic testing (DNA sequencing) to detect GLA mutations.
  • Neonatal Screenings: Some states screen newborns for Fabry disease and other lysosomal storage disorders. Enzyme testing is included as part of routine neonatal testing.

Treatment of Fabry disease

There are two treatments. The most common is enzyme replacement therapy (ERT), which replaces a missing or malfunctioning enzyme. This allows your body to break down fatty acids. Helps reduce pain and other symptoms caused by Fabry disease. Visit a patient centre every few weeks to inject the enzyme into a vein.

The new choice is oral drug Migalastat (Galafold). This is in contrast to ERT, which acts to stabilize inactive enzymes. It also helps reduce the effects of the disease on your organs.

Your doctor may also recommend:

  • Pain relievers (prescription or non-prescription)
  • Medicines for stomach problems.
  • Blood thinners or other medicines for irregular heartbeats or other heart problems
  • Blood pressure medicine, which also helps protect your kidneys.
  • You may need dialysis or a kidney transplant if it causes severe kidney damage.

You can also expect to have regular tests to see how you are doing. These may include:

  • Blood, urine and thyroid tests.
  • EKG (electrocardiogram): A nurse or other medical professional will place soft, sticky patches on various parts of your body. These patches measure your heart’s electrical signals and tell you how fast your heart is beating and if there is a healthy rhythm.
  • Echocardiogram: This is an ultrasound of your heart. It shows that all parts of your heart are healthy and that you are pumping well.
  • Brain MRI: An MRI, or MRI, takes pictures of your body’s organs and structures.
  • CT of her head: A CT scan, or CT scan, is a powerful X-ray that generates detailed images of the inside of your body.
  • Hearing and eye exams
  • Pulmonary function test to see how much air you breathe in and out, and how much oxygen your blood is getting

Take care of yourself

Be good to yourself. Do the things you enjoy, spend time in good company, and save energy for the things that are really important to you. Part of this may be saying “no” and letting people know what helps you.

Your family and friends may not know much about Fabry disease. Help them understand what is happening to you. Sometimes when people have serious health problems, they become depressed or anxious because the problem is too high. Your doctor should check how you feel, but you should mention it and ask for a referral to a counsellor. Talking to someone can help.

What are the complications of Fabry disease?

Years of the build-up of the fatty substance can damage blood vessels and lead to life-threatening problems, such as:

  • Heart problems, including arrhythmia, heart attacks, an enlarged heart and heart failure.
  • Kidney failure.
  • Nerve damage (peripheral neuropathy).
  • Strokes, including transient ischemic attacks (TIA or ministrokes).

Causes and Treatments of Gaucher disease | Endocrinology

What is Gaucher disease?

Gaucher disease is the result of the accumulation of certain fatty substances in certain organs, especially the spleen and liver. This causes these organs to expand and affect their function.

Fatty substances can also accumulate in bone tissue, weaken the bone and increase the risk of fractures. If the bone marrow is affected, it can interfere with the blood’s ability to clot. Fatty substances (sphingolipids) weaken bones and expand organs, so they cannot function. There is no cure for gout, but treatments can relieve symptoms and significantly improve quality of life.

The enzyme that breaks down these fats does not work properly in people with gout. Treatment often includes enzyme replacement therapy. Gaucher disease is very common among Jews of Eastern and Central European (Ashkenazi) descent. Symptoms appear at any age.

What is a carrier of Gaucher disease?

If you are a carrier of Gaucher disease, it means that you have the same genetic mutation associated with the disorder. To have the parent disease, you must have two mutations in the GCase gene; One from your mother and the other from your father. Learn about the heredity and genetics of gout disease and which mutations are more serious.

When both parents are carriers, there is a 1 in 4 chance for each pregnancy, with the chance of having a baby with this disease. People with Gaucher disease have no signs or symptoms.

Who is likely to get Gaucher disease?

Anyone can have the disorder, but Ashkenazi (Eastern European) Jewish ancestors have type 1 Gaucher disease. Ashkenazi (or Ashkenazic) 1 in 450 people of Jewish descent have the disorder and 1 in 10 have a genetic mutation that causes gout.

Ancestors have no influence on who gets type 2 and type 3 gout disease. This disorder affects people of all races.

How does Gaucher disease affect the body?

The effects of gout disease on the body vary from person to person. Some people experience severe symptoms of gout disease, while others do not.

If you have gout, your body will be affected in the following ways:

  • Inflammation of the stomach due to an enlarged spleen and liver.
  • Bone pain and bones that break easily
  • Anemia (low blood counts) and fatigue
  • Bleeding problems and trauma

Types of Gaucher disease

Based on the presence or absence of early brain involvement, scientists divide gout disease into 3 types:

  • Type 1 Gaucher disease: Type 1 Gaucher disease is a very common disease in Western countries, where approximately 95 per cent of patients are found. Symptoms of an enlarged spleen and liver, bone problems and fatigue. Brain development is normal. Learn more about type 1 Gaucher disease, which can be treated.
  • Type 2 Gaucher disease: This type of Gaucher disease is very rare and involves severe neurological (brainstem) abnormalities. It is usually fatal in the first 2 years and currently cannot be treated due to severe and irreversible brain damage.
  • Type 3 Gaucher disease: This type of Gaucher disease is very rare in the United States and Europe; however, it is the most common form of the disease worldwide. Type 3 Gaucher disease has a severity between 1 and 2, with type 1 and some neurological involvement. While patients typically have a short lifespan, some can live up to 50 years with treatment. Learn more about types 2 and 3 of Gaucher disease.

Symptoms of Gaucher disease

There are different types of gout and the signs and symptoms of the disease vary greatly within the same type. Type 1 is very common. Siblings and identical twins also have varying degrees of severity of the disease. Some people with gout have little or no symptoms.

Most people with gout have different levels of the following problems:

  • Abdominal complaints Since the liver and especially the spleen can expand dramatically, the abdomen becomes painful.
  • Skeletal abnormalities. Gaucher disease weakens the bone and increases the risk of painful fractures. It also cuts off the blood supply to the bones, causing parts of the bone to die.
  • Blood disorders A decrease in healthy red blood cells (anemia) can lead to severe fatigue. Gaucher disease also affects the cells that cause clotting, which can easily lead to bruising and sores.
  • More rarely, Gaucher disease affects the brain, causing abnormal eye movements, muscle stiffness, difficulty swallowing, and seizures. A rare subtype of gout disease begins in childhood and usually leads to death by 2 years of age.

What causes gaucher disease?

Gaucher disease is not something you “catch” like a cold or the flu. It is an inherited condition caused by a problem with the GBA gene. You get the disease when both parents send you the damaged GBA gene. Even if you don’t have Gaucher disease, you can pass the wrong gene to your child.

When these enzymes are not enough in the body, fatty chemicals (called gouache cells) are formed in the organs, bone marrow, and brain. Excess fat can cause a variety of problems and symptoms. They affect the functioning of organs and destroy blood cells and weaken bones.

Diagnosis of Gaucher disease

During the physical exam, your doctor will press on you or your baby’s abdomen to check the size of the spleen and liver. To find out if your child has gout, the doctor will compare your child’s height and weight with standard growth charts.

He or she may also recommend some lab tests, imaging scans, and genetic suggestions.

  • Lab tests
  • Blood samples can be tested to determine the levels of enzymes associated with gout. Genetic testing can tell if you have the disease.
  • Imaging tests
  • People with gout usually need regular check-ups to know its progression:
  • Double power X-ray absorptiometry (DXA). This test uses low-level X-rays to measure bone density.
  • Magnetic resonance. Using radio waves and a strong magnetic field, an MRI can show if the spleen or liver is enlarged and the bone marrow is affected.
  • Preconception screening and prenatal tests
  • If you or your Ashkenazi partner are of Jewish descent or either of you has a family history of gout, you may want to have genetic testing before starting a family. In some cases, doctors recommend a prenatal test to see if the fetus is at risk for gout.

Gaucher disease treatment

There is no cure for gout, and a variety of treatments can help control symptoms, prevent irreversible damage, and improve quality of life. Some people have mild symptoms that do not require treatment.

Your doctor will recommend regular monitoring of disease progression and complications. How often you need to be monitored depends on your condition.


Many people with gout have seen improvements in their symptoms after starting treatment:

  • Enzyme restoration therapy: This procedure replaces the defective enzyme with synthetic ones. These reconstitution enzymes are administered intravenously (usually intravenously), usually in large doses over a period of two weeks. Occasionally, people will have an allergic or hypersensitivity reaction to enzyme treatment.
  • Miglustat (Zaveska): These oral medications interfere with the production of fats that occur in people with gout. Diarrhea and weight loss are common side effects.
  • Eliglustat (as Serdelga): This medicine also prevents the production of fats that occur in people with the most common form of gout disease. Possible side effects include fatigue, headache, nausea, and diarrhea.
  • Osteoporosis: These types of medications can help rebuild bone weakened by gout.

Surgery and other procedures

If your symptoms are severe and you are not a candidate for less invasive treatments, your doctor may prescribe:

  • Bone marrow transplant: During this procedure, blood cells that have been damaged by Gaucher disease are removed and replaced, which can reverse most Gaucher signs and symptoms. Since it is a high-risk procedure, it occurs less frequently than enzyme replacement therapy.
  • Spleen removal: Before enzyme replacement therapy was available, removal of the spleen was a common treatment for gout. However, this approach is often used as a last resort.