General Topics

Uses and Precautions of Genomic Medicine | Endocrinology

What is genomic medicine?

Genomic medicine is the study of our genes (DNA) and their communication with our health. Genomics investigates how a person’s biological info can be used to improve their clinical care and health outcomes (for example, through real diagnosis and personalized treatment.

While genetics looks at exact genes or groups of ‘letters’ along the DNA chain, genomics refers to the study of a person’s whole genetic makeup. It is about how they tell and react to each other and is associated with conditions that have a wider variety of triggers, such as diabetes, heart disease, cancer, and asthma.

How is genomics used in medicine?

Diagnosis: For example, when the cause of a variety of symptoms cannot be identified by any other means. Prenatal tests are done during pregnancy, either for screening (in case something is wrong with the baby) or when there is already a family history. Helps parents make informed decisions and plans for the future.

When there is a family history of serious genetic disorders, you can tell prospective parents whether they are carriers or not and if they can pass it on to their children. You can also tell someone if you are likely to develop the inherited condition later in life, even if you don’t have any symptoms yet.

To assess risk: A person’s genetic makeup can show their susceptibility to certain diseases, such as heart disease, stroke, and cancer. Maybe they have high cholesterol levels or have vein problems. Possessing this knowledge means that they can achieve risk through medication, medical intervention, or by making positive existence changes.

Advances in genomic medicine

Several notable advances or achievements in genomic medicine are described below. However, further study of these issues beyond that provided in these summaries is warranted.

Precision medicine: The ultimate goal of precision medicine is that instead of a “one size fits all” approach by disease type, medicine will be based on a genetic understanding of the disease. Precision medicine not only involves studying the genome, but it also considers factors such as where a person lives, what they do, and what their family health history is.

The goal is to develop specific prevention or treatment approaches to help specific people stay healthy or get better rather than relying on approaches that are the same for everyone.

Precautions of genomic medicine

There are many aspects of genomic medicine that society must consider. For example, if a genomic medicine causes a disease with no known treatment, does it make sense to test people for that mutation before they develop symptoms? Also, some mutations cause an increased risk of disease, but that increased risk is very small compared to the risks of other factors such as diet and exercise.

Does it make sense to screen people for these kinds of changes when the change may not cause harm? How should this information be used? It is illegal for health insurance companies and employers to use genetic information to limit eligibility, set premiums, or discriminate against people without symptoms.

What is genetic counselling?

There are several types of service providers. In the UK, for example, the National Health Service employs 90 consultant clinical geneticists in 25 centres. They are supported by hundreds of specifically trained staff.5 Referral is usually done through a general practitioner (GP or family doctor) and is available to those concerned about a serious genetic family condition or a family tendency to develop cancer, or for parents of a child with learning disabilities and other developmental problems seeking expert evaluation.

In places where a public service is not available, or for those who choose to seek private healthcare treatment, check that the clinic you are using has the necessary registration (for example in the UK this is through the Care Commission for Quality, also known as CQC6) and the laboratory is also duly accredited.

Whatever the setting, the appointment may take some time and you may need to bring other members of your family with you. Your medical and family history will be mapped and explored, and you will likely have a medical exam as well. Finding out that there may be a life-changing or limiting condition in your future is a serious and, for some, traumatic experience.

Along with counselling, you may be offered tests (including blood tests), with the option to have them done the same day or, if you need time to think about the possible implications, come back at a later date. Results can take weeks or even months to recover (depending on the rarity of the genetic abnormality and how easy it is to find), but the results of prenatal tests will be returned much sooner.

Aftercare depends on the results and the nature of the test. Some people will be referred back to their family doctor along with all the details, or they can continue to receive treatment in a specialized unit. Those without symptoms will receive support and advice on lifestyle changes to minimize their risk, and advice on how to manage their possible condition in the future.

Several private companies offer genetic testing by mail. It involves taking a cheek swab or a blood sample at a local clinic. Then it is sent to the laboratory. The types of things that are tested include genetic risk for diabetes and heart conditions, as well as information about ancestry. Some companies provide more services than others, with counsellors or other healthcare professionals available to help. Convenient (but not necessarily cheap), it should be remembered that this is genetic testing without the usual level of holistic support found in established clinics.

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

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.



Preparation of Slit Lamp Exam | Procedure | Ophthalmology

What is the slit lamp exam?

The slit lamp examination is a standard diagnostic procedure, also known as biomicroscopy. A slit lamp combines a microscope with very bright light. The slit lamp exam is usually part of a comprehensive eye exam. The individual will sit in a chair in front of the slit lamp with the chin and forehead supported by a support.

The doctor can use this instrument to observe the eyes in detail and determine if there are any abnormalities. They will be able to discuss the results with the person right away.

Uses of slit lamp examination

Doctors use the slit lamp as part of a comprehensive eye exam to better look at the structures within a person’s eyes. These include the following:

  • Conjunctiva: The conjunctiva is a thin, transparent membrane that covers the white of the eye. It also includes the membranous surface of the inner lids.
  • Cornea: The cornea is the transparent cover of the iris and pupil. It protects the eye and also helps send light through the pupil to the retina at the back of the eye.
  • Eyelids: The eyelids help protect the eyeball from debris or injury. Blinking helps lubricate the eye and prevent it from drying out.
  • Iris: the iris is the coloured portion of the eye. It controls the quantity of light that arrives in the eye by contracting and dilating the pupil.
  • Pupil: The pupil is the black spot in the middle of the eye. It occupancies light to enter the eye and travel to the retina.
  • Lens: The lens is placed behind the iris and focuses light on the retina.
  • Sclera: The sclera is the white portion of the eye. It consists of relatively strong fibrous tissue that helps provide structure and protection to the rest of the eye.
  • Retina: The retina is the tissue in the eye that contains cells that detect light. These cells join nerves that eventually join to form the optic nerve.

Process undergoing slit lamp examination

After the first look into your eyes, your doctor may apply a special dye called fluorescein to make the exam easier. It will be given as an eye drop or on a small, thin strip of paper that touches the white of the eye. The doctor will then manage a series of eye drops that will dilate the pupils. Enlargement will make it easier for the doctor to see the other structures in the eye. The drops take about 20 minutes to work.

Once the person has dilated pupils, the doctor will repeat the eye exam. This period they will grip a particular lens close to the eye.
The procedure does not hurt, although there may be a brief sting during the application of the eye drops. Dilated pupils develop very large, which can make the eyes sensitive to light. This can make driving or outlay time outside painful. However, the eye drops should garb off within a combine of hours, and wearing sunglasses should help during this period.

Slit lamp exam preparation

There is no special preparation for this test. If the doctor plans to dilate the pupils, the person may want to wear sunglasses and arrange a trip home after the test.

Risk factors in the slit lamp exam

A slit lamp exam is generally very safe, although medications that dilate the pupils carry some risks. They can increase eye pressure, causing nausea and eye pain. Anyone experiencing these symptoms should inform a doctor immediately.

Types of slit lamp exam

Other common eye exams include:

Wood’s lamp examination

Wood’s lamp projects ultraviolet light into the eye to reveal any abrasions or scratches on the cornea. Doctors can use this if a slit lamp is not available.

Fundus examination

During a fundus exam, the doctor will use an ophthalmoscope to look inside the eye. Some will use a direct ophthalmoscope, which is a small hand-held instrument with a light on. However, most doctors will use an indirect ophthalmoscope, as they can wear it on the head and it gives them a wider field of view for the exam. The patient will be asked to look into the distance while using the device to examine the internal structures of the eye.


For this process, the doctor will first administer numbing eye drops. The person will sit with their head supported by the slit lamp microscope, and the doctor will place a special contact lens directly over the eyeball. Happens during a slit lamp exam.

You do not need to prepare in advance for a slit lamp exam. Once you are in the exam chair, the doctor will place an instrument in front of you to support your chin and forehead. This helps stabilize the head for the exam. Your ophthalmologist may put drops in your eyes to make any abnormalities on the corneal surface more visible. The drops contain a yellow dye called fluorescein, which washes away tears. Additional drops may also be put in your eyes to allow your pupils to dilate or enlarge.

The doctor will use a low-power microscope, along with a slit lamp, which is a high-intensity light. They will look you in the eye closely. The slit lamp has different strainers to get different views of the eyes. Some doctor’s offices may have devices that detention digital images to track variations in the eyes over time.

Throughout the test, the doctor will examine all areas of your eye, including:

  • Eyelids
  • Conjunctiva
  • Iris
  • Lens
  • Sclera
  • Cornea
  • Retina
  • Optic nerve

Diagnosis in the test

A slit lamp exam can help diagnose the following circumstances:

  • Macular degeneration, a chronic condition that affects the part of the eye responsible for central vision.
  • Detached retina, a condition in which the retina, which is a main layer of tissue at the back of the eye, is shed from its base.
  • Cataracts, a clouding of the lens that damagingly affects the ability to see images visibly.
  • Corneal injury, an injury to one of the tissues that cover the surface of the eye.
  • Retinal vessel obstructions, obstructions in the blood vessels of the eye that can cause a sudden or gradual loss of vision.

Ask your doctor what you are looking for during the exam and what eye conditions you may be at risk for. This test usually has no major side effects. Your eyes may be sensitive to light for a time afterwards, especially if your pupils were dilated. If you start to feel nauseous or have pain in your eyes, return to your doctor’s office as soon as possible. These may be symptoms of increased fluid pressure in the eye, which can be a medical emergency. While the risk of this is small, eye drops used to dilate the eye can rarely cause this to occur.

Abnormal results mean

If the results of your slit lamp exam are abnormal, there can be a variety of conditions, including:

  • Infection
  • Inflammation
  • Increased pressure in the eye
  • Degeneration of the arteries or veins of the eye

For example, if macular degeneration is occurring, the doctor may find drusen, which are yellow deposits that can form in the macula at the beginning of age-related macular degeneration. If your doctor suspects a particular cause of vision problems, she may recommend more tests to get a more definitive diagnosis.


Hypermagnesemia | Preventive Measures | Endocrinology

What is hypermagnesemia?

Hypermagnesemia is rare and happens when too much magnesium circulates in the blood. In healthy people, very slight magnesium circulates in the blood. The gastrointestinal (intestine) and renal (kidney) systems regulate and control the amount of magnesium that the body absorbs from food and the amount that is excreted in the urine.

These systems control the amount of magnesium that the body absorbs from food and the amount that is excreted in the urine. A healthy body upholds a level of 1.7 to 2.3 milligrams per deciliter (mg / dL) of magnesium at all times. A high magnesium level is 2.6 mg / dL or more.

Causes of hypermagnesemia

The efficacy of the renal response to a magnesium load is such that hypermagnesemia is observed mainly in two situations: when renal function is impaired and/or when a large magnesium load is administered, either intravenously, orally, or as an enema.

Renal failure: Hypermagnesemia can be seen in 10 to 15 per cent of hospitalized patients, usually in the setting of kidney failure. Plasma magnesium levels increase as renal function declines since there is no magnesium regulatory system other than urinary excretion.

The typical patient with end-stage renal disease (ESRD), for example, has a plasma magnesium concentration of 2 to 3 mEq / L (2.4 to 3.6 mg / dL or 1 to 1.5 mmol / L). In dialysis patients, the plasma magnesium concentration is mainly determined by the intake of magnesium. This was demonstrated in a cross-sectional study of hemodialysis patients who completed a dietary questionnaire; the correlation between estimated dietary magnesium intake and serum magnesium was 0.87.

Furthermore, hypermagnesemia (defined as serum magnesium greater than 1.5 mmol / L) occurred with magnesium intakes as low as 281 mg/day, which is considerably lower than the average intake in the general population. Symptomatic and severe hypermagnesemia can also be induced when exogenous magnesium is administered as antacids or laxatives in the usual therapeutic doses. As a result, these drugs are contraindicated in patients with renal failure.

Hypermagnesemia symptoms

You may not have any symptoms if your blood magnesium levels are significantly elevated. You may have muscle weakness, misperception, and decreased reactions if your blood test results show severely high blood magnesium levels.

Things you can do for hypermagnesemia:

  • Follow your healthcare provider’s orders regarding lowering your blood magnesium level. If your blood levels are severely high, he or she may prescribe medications to lower the levels to a safe range.
  • Take all of your medicines as directed if blood test fallouts show you have hypermagnesemia. Avoid laxatives and antacids covering magnesium if your kidneys are not working properly.

If you are constipated:

  • Make sure to keep active, and keep your bowels moving!
  • Increase your daily intake of fresh fruit and fibre. Prunes and prune juice may work for some of those. It is important to move your bowels daily.
  • If you do not move your bowels every day, your health care provider may prescribe stool softeners and laxatives to help prevent constipation, not containing magnesium if you have kidney problems. Work with your healthcare provider to mature a regimen that will work for you.

Drink 2 to 3 litres of fluid every 24 hours, unless you were told to restrict your fluid intake. This will decrease your chances of being dehydrated, which can lead to constipation.

Track all of your healthcare provider’s references for follow up blood work and laboratory tests. Evade caffeine and alcohol, as these can cause you to have electrolyte disturbances.

Drugs that may be set by your physician for hypermagnesemia:

  • Calcium: This medication is given typically intravenously, to lower the blood magnesium level, if you have severely high blood magnesium levels.
  • Hemodialysis: If you have a harshly elevated blood magnesium level, and you are currently in kidney failure, your healthcare breadwinner and a kidney specialist may order dialysis treatments.

Diagnosis of hypermagnesemia

Serum magnesium concentrations> 2.6 mg / dL (> 1.05 mmol / L). At serum magnesium concentrations of 6 to 12 mg / dL (2.5 to 5 mmol / L), the ECG shows a prolongation of the PR interval, a widening of the QRS complex, and increased amplitude of the T wave.

Deep tendon reactions disappear when the serum magnesium attentiveness approaches 12 mg / dL (5.0 mmol / L); hypotension, respiratory depression, and narcosis develop with increased hypermagnesemia. Cardiac arrest can occur when the magnesium concentration in the blood is> 15 mg / dL (6.0 to 7.5 mmol / L).

Hypermagnesemia treatment

Treatment of severe magnesium toxicity consists of circulatory and respiratory support and administration of calcium gluconate 10%, 10-20 ml IV. Calcium gluconate can reverse many of the changes induced by magnesium, including respiratory depression. IV furosemide administration can increase magnesium excretion when renal function is adequate; the volume state must be maintained.

Hemodialysis can be of worth in severe hypermagnesemia because a comparatively large fraction (about 70%) of magnesium in the blood is not protein-bound and therefore can be removed by hemodialysis. When hemodynamic compromise occurs and hemodialysis is impractical, peritoneal dialysis is an option.

Prevention of hypermagnesemia

People with underlying kidney problems are at risk of developing hypermagnesemia because their kidneys may not be able to excrete enough magnesium. Avoiding medications that contain magnesium can help prevent complications. This includes some over-the-counter antacids and laxatives. Clinicians are advised to test for hypermagnesemia in anyone with poorly performing kidneys experiencing the associated symptoms.


Diagnosis of Primary Ovarian Insufficiency (POI) | Endocrinology

What is primary ovarian insufficiency?

Primary ovarian insufficiency usually occurs when the ovaries stop working before age 40. When this happens, the ovaries do not produce the normal amount of the hormone estrogen or release eggs regularly. This condition often leads to infertility.

Primary ovarian insufficiency is sometimes confused with premature menopause, but these conditions are not the same. Women with primary ovarian failure can have irregular or intermittent periods of years and can become pregnant. But women with premature menopause do not have periods and become pregnant.

Restoring estrogen levels in women with primary ovarian failure can help prevent some of the complications that can result from low estrogen levels, such as osteoporosis. The term health care provider POI is used when the female ovaries stop working before age 40.

Most women experience fertility naturally in their 40s. This age indicates the onset of irregular periods that indicate the onset of menopause. For women with primary ovarian insufficiency (POI), irregular periods and decreased fertility occur before age 40, sometimes even in adolescence.

Previously, primary ovarian insufficiency (POI) was called “premature menopause” or “premature ovarian failure,” but those terms did not accurately describe what happens in a woman with primary ovarian insufficiency (POI). A woman who has gone through menopause will not have another normal period and will not be able to conceive. If a woman with primary ovarian insufficiency (POI) does not become regular, she may still be pregnant.

Symptoms of primary ovarian insufficiency

You may not know that your ovaries are working normally. Some women with premature ovarian failure still have periods and may become pregnant. But many people with this condition have trouble getting pregnant. This usually prompts you to visit a doctor.

Common symptoms of premature ovarian failure are rare or missing periods. Periods that start as they expect, then stop and start again. Other symptoms can resemble menopause and can include:

  • Hot flushes; Hot vapours
  • Night sweats
  • Anxiety, depression, or mood swings
  • Concentration or memory problems.
  • Your sex drive is not what it used to be
  • Trouble sleeping
  • Vaginal dryness, which makes sex uncomfortable.

Primary ovarian insufficiency causes

Inside the ovaries are small sacs called follicles. The eggs are captured as they grow. Girls are generally born with 2 million “seeds” that develop into these follicles, which go through menopause.

If you have a primary ovarian defect, your follicles may swell (as your doctor calls this degeneration) or not function properly (also known as dysfunction). Doctors do not know why this happens.

This condition is more likely to occur if you have a mother or sister. Other things that make it more:

  • Autoimmune disorders
  • Chemotherapy and radiotherapy.
  • Genetic and chromosomal disorders, including Fragile X syndrome and Turner syndrome
  • Viral infections

Primary ovarian insufficiency risk factors

Factors that can increase your risk of developing primary ovarian failure:

  • Years: The risk increases between the ages of 35 and 40. Although rare before age 30, primary ovarian failure is also possible in young women and adolescents.
  • Family history: Having a family history of primary ovarian failure increases the risk of developing this disorder.
  • Ovarian surgery: Surgeries that involve the ovaries increase the risk of primary ovarian failure.

Complications of primary ovarian insufficiency

Complications of primary ovarian failure:

  • Sterility: The inability to get pregnant is a problem of primary ovarian failure. In rare cases, pregnancy is possible until the eggs hatch.
  • Osteoporosis: A hormone called estrogen helps maintain strong bones. Women with low estrogen levels are at higher risk of developing weak and brittle bones (osteoporosis), which are more likely to break than healthy bones.
  • Depression or anxiety: The risk of infertility and other problems caused by low estrogen levels can make some women feel depressed or anxious.

Heart disease Early loss of estrogen increases your risk.

How is primary ovarian insufficiency diagnosed?

Primary ovarian insufficiency (POI) key codes:

  • Missing or irregular 4-month periods, usually after spending some time regularly
  • High levels of follicle-stimulating hormone (FSH)
  • Low estrogen levels 4,6,13
  • If a woman is under 40 and starts having irregular periods or stops for 4 months or more, her healthcare provider can take these steps to diagnose the problem:
  • Take a pregnancy test: This test ruled out an unexpected pregnancy as the cause of missed periods
  • Do a physical exam: During the physical exam, the doctor will see signs of other disorders. In some cases, the presence of these other disorders overrides the POI. Or, if there are other disorders associated with POI, such as Addison’s disease, the healthcare provider may know that there is POI.
  • Collect blood: The healthcare provider collects your blood and sends it to a lab where the technician performs several tests:
  • Follicle-stimulating hormone (FSH) test: FSH refers to the ovaries for estrogen production, sometimes called the “female hormone” because women need high levels for fertility and general health. When the ovaries are not working properly, the level of FSH in the blood rises, as in POI. The doctor can perform two FSH tests at least once a month. If the FSH level in both tests is as high as in women who have gone through menopause, then the probability of having a POI.
  • Luteinizing hormone test: LH refers to the mature follicle that releases an egg. Women with POI have higher LH levels, further evidence that follicles are not working normally
  • Estrogen test: In women with POI, estrogen levels are generally lower because the ovaries do not function properly in the role of estrogen producers.1,6
  • Karyotype test: This test looks for abnormalities in your 46 chromosomes. Karyotype tests reveal genetic changes in the structure of chromosomes associated with POI and other health problems.
  • Do a pelvic ultrasound: In this test, the doctor uses a sound wave machine (ultrasound) to create and view images within the female pelvic area. Ultrasound shows whether the ovaries are dilated or have multiple follicles 4,11

The healthcare provider also asks questions about a gynaecological history. He or she may ask:

  • A blood relative with POI or its symptoms
  • A blood relative with Fragile X syndrome or undiagnosed intellectual or developmental disability
  • Ovarian surgery
  • Radiation or chemotherapy treatment
  • Pelvic inflammatory disease or other sexually transmitted infections.
  • An endocrine disorder such as diabetes 4

If they don’t perform tests to rule out POI, some healthcare providers may find missing periods stressful. However, this approach is problematic because it delays diagnosis; Further evaluation is required.

Treatments of primary ovarian insufficiency

Treatment for primary ovarian failure usually focuses on problems caused by estrogen deficiency. Your doctor may recommend:

Estrogen therapy

Estrogen therapy can help prevent osteoporosis, as well as eliminate hot flashes and other symptoms of estrogen deficiency. Your doctor will usually prescribe estrogen with a hormone called progesterone, especially if your uterus is still there. Adding progesterone protects the lining of the uterus (endometrium) from premature changes caused by estrogen alone.

The combination of hormones will rejuvenate your period, but will not restore ovarian function. Depending on your health and preferences, you can take hormone therapy until age 50 or 51, the average age of natural menopause.

In older women, chronic estrogen plus progestin therapy increases the risk of cardiovascular (cardiovascular) disease and breast cancer. In young women with primary ovarian failure, the benefits of hormone therapy outweigh the potential risks.

Calcium and vitamin D supplements

Both of these nutrients are important in preventing osteoporosis, and you may or may not be exposed to sunlight in your diet. Your doctor may prescribe a bone density test before starting supplements to get a baseline measurement.

For women ages 19 to 50, experts generally recommend 1,000 milligrams (mg) of calcium per day through diet or supplements, increasing to 1,200 mg per day for women 51 and older. The exact daily dose of vitamin D is not yet clear. A good starting point for adults is 600 to 800 international units (IU) per day, per diet or medication. If your blood D levels are low, your doctor may prescribe higher doses.

Solve infertility

Treatment to restore fertility has not been proven. Some women and their partners continue to conceive through in vitro fertilization using donor eggs. In this process, the eggs are collected from the donor and fertilized in the laboratory with your partner’s sperm. The fertilized egg (embryo) is placed in your uterus.


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.