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.

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.


Oral Glucose Tolerance Test (OGTT) | Endocrinology

What is the Oral Glucose Tolerance Test (OGTT)?

  • The oral glucose tolerance test (OGTT) is the gold standard for diagnosing type 2 diabetes.
  • During pregnancy, it is still used to diagnose gestational diabetes.
  • With an oral glucose tolerance test, the person fasts overnight (at least 8 hours, but no more than 16 hours).
  • The next morning, fasting plasma glucose is tested.
  • After this test, the person receives a dose of oral glucose (the dose depends on the duration of the test).
  • There are several methods obstetricians use to perform this test, but what is described here is standard.
  • Generally, glucose is present in the sweetened liquid that a person drinks.
  • Blood samples are taken four times at different times after taking sugar to measure the blood glucose.

Types of oral glucose tolerance test

The oral glucose tolerance test approach varies significantly depending on the objectives of the test. The ratio varies depending on the oral glucose solution and the time required and the number of blood draws. There are also variations in which a low carb diet is recommended.

There are two standard variations for screening and diagnostic purposes:

  • The two-hour OGTT with two blood draws is used to diagnose diabetes/prediabetes in non-pregnant adults and children.
  • A three-hour OGTT with four blood draws is used to evaluate gestational diabetes.

Pregnancy recommendations

The American College of Obstetricians and Gynecologists (ACOG) recommends routine testing for gestational diabetes in pregnant women at 24 and 28 weeks’ gestation.

That said, instead of going straight to a three-hour OGTT, doctors recommend a one-hour glucose test that does not require fasting. If you have these delays, have a family history of diabetes, have polycystic ovarian syndrome (PCOS), or have had gestational diabetes before, you can request the glucose challenge one hour before 24 weeks. The test is unusual: blood glucose values ​​are more than 140 milligrams per deciliter (mg / dL) or more; you go to a full three hour OGTT. Some doctors have determined that the intake is less than 130 mg / dL.

Advantages and disadvantages of oral glucose tolerance test

The oral glucose tolerance test fast is much more sensitive than the plasma glucose test (FPG) and is often ordered when diabetes is suspected but the FPG gives a normal result. 6 Its ability to detect weakness early means that people with prediabetes can often treat their condition with diet and exercise rather than medication. The oral glucose tolerance test is also the only test that can accurately diagnose IGT.

Despite these advantages, the oral glucose tolerance test has its limitations:

  • The oral glucose tolerance testis a time-consuming test that requires an extensive pre-test fast and a long period of testing and waiting.
  • Test results can be affected by stress, illness, or medications.
  • Blood is less stable after collection, which means that results can sometimes be distorted as a result of improper handling or storage of the sample.
  • In terms of precision, OGTT has a sensitivity of between 81 and 93 per cent (percentage of optimal positive test results). It is much better than FGP with a sensitivity of between 45% and 54%.

Risk factors for oral glucose tolerance test

OGTT is a safe and minimally invasive test that requires two to four blood draws. Infection is rare but can occur. However, some may have a reaction to the oral glucose solution, usually nausea or vomiting. If vomiting occurs during the test, the test may not be complete.

They will monitor and treat you if necessary, but be aware that some people experience hypoglycemia during an oral glucose tolerance test.

Do not oral glucose tolerance test if it is:

  • Diabetes has already been diagnosed
  • You have an allergy to sugar or dextrose.
  • Recovering from surgery, injury, or infection
  • They are subject to severe psychological stress.
  • Have you ever experienced hypokalemic paralysis?

Before the oral glucose tolerance test

If you are sick or have a recent illness, even if it is as common as a cold, you may not be tested. If you are not sure, call the laboratory or your doctor.


Since you have to come to the lab when you are fasting, OGTTs are usually scheduled in the morning. You should be prepared to allocate three to four hours, depending on whether you are taking a two or three-hour test.

Since stress and anxiety can affect your blood sugar levels, arrive at least 30 minutes before your appointment so that you have time to calm down and relax.


Oral glucose tolerance test can be done in the doctor’s office, clinic, hospital, or an independent laboratory.

What to wear

Because it is necessary to draw blood, wear short sleeves or a blouse that allows you to easily wrap your sleeves.

Food and drink

You should stop eating and drinking eight to 12 hours before the test (time spent sleeping); Follow your doctor’s advice. You can take an occasional sip of water if you like.

If you smoke, you must suspend the day of your appointment until the test is over. Smoking not only increases insulin production but also weakens glucose tolerance and increases blood pressure.


Inform your doctor about the medications you are taking, their prescription, over-the-counter, nutritional, homoeopathic, traditional, or recreational. Some medications affect blood glucose and may need to be temporarily stopped.

These may include:

  • Blood thinners such as Topamax (Topiramate) or Depocoat (Valproate)
  • Different antipsychotics such as clozaril (clozapine) or serocquel (cutiapine)
  • Corticosteroids such as prednisone or medrol (methylprednisolone)
  • Urination
  • Quinolone antibiotics such as cipro (ciprofloxacin) or levaquin (levofloxacin)
  • Statin medications such as Crester (rosuvastatin) and lipids (atorvastatin)
  • Salicylates including aspirin
  • Tricyclic antidepressants such as anafranil (clomipramine) or tofranil (imipramine)

You should never stop taking chronic medications without first consulting your doctor.

What Brig

In addition to your ID and health insurance cards, you may have to sit for a few hours between blood drawings, so you may want to bring something to read. Some headphones and relaxing music to listen to.

However, avoid video games or anything that exaggerates you. This is especially true if your child is being tested. Instead, bring a storybook or toys or download a video to your laptop or tablet. You may want to bring a protein bar or snack to eat after you’re done, especially if you have a long drive home.

Cost and medical insurance

The test may be covered in whole or in part by your health insurance. Prior authorization is generally not required, but to be safe, check with your insurance company ahead of time to verify and estimate what your copay or coins will cost.

If you are not insured, buy at the best price. Independent laboratories have the best prices compared to doctor’s offices or hospitals. You should also ask if there is a patient support program in the lab that provides tire structure or monthly payments. This can be very helpful if you think there should be lab tests in progress.

During the oral glucose tolerance test

Unlike a fasting glucose test, it only tests your blood in the fasted state, with fasting OGTT and non-fasting results. Testing procedures may vary depending on whether you are an adult, a child, or if you are pregnant.


On the day of the test, after registering and verifying your insurance information, you will be taken to the test room, where your height and weight will be recorded. Your temperature and blood pressure can also be taken.

At this point, you will be asked to lift your sleeve for a blood draw. To do this, the phytotomist places an elastic tourniquet around the upper arm.

Throughout the test

Select the vein on the curve of your arm or wrist and wipe it with an antiseptic wipe. The butterfly needle is then inserted and 2 millilitres (ml) of blood is drawn to obtain the initial fasting result.

After the needle is removed and the puncture wound is bandaged, you or your baby will be given a solution of sugar and glucose to drink. The formulation used varies as follows:

  • For two hours of OGTT in adults: 8 ounce solution containing 75 grams of sugar
  • For the two-hour OGTT in children: the dose is 1.75 grams of sugar per kilogram of body weight (1.75 g / kg), with a maximum dose of 75 grams.
  • For three hours OGTT: 8-ounce solution with 100 grams of sugar
  • After drinking the solution, you will return to the reception area for the indicated waiting time; In general, you cannot leave.
  • If you are an adult or child tested for diabetes or prediabetes, wait two hours after drinking the solution and return to the testing room for another blood draw (for a total of two blood draws).
  • If you are being tested for gestational diabetes, take blood samples one, two, and three hours after drinking the solution (for a total of four blood samples).
  • You will be monitored throughout the test to make sure your glucose levels are not too low. Consult a nurse or phlebotomist if you experience any signs of hypoglycemia, such as weakness, sweating, anxiety, chills, pale skin, or irregular appetite.
  • After obtaining the necessary samples, you can return home and resume your normal activities and diet. If you feel light-headed or dizzy, the medical team may ask you to get some rest before leaving.

After the oral glucose tolerance test

Although the side effects are unusual, some people experience bloating, nausea, abdominal pain, and diarrhea as a result of the oral solution. These can be alleviated with an over-the-counter antidiarrheal by drinking ginger tea or chewing peppermint gum. Some may also experience pain, swelling, or bruising at the site of the blood draw.

Call your doctor if you experience any unusual pain, swelling or excessive bleeding at the puncture site, or symptoms of infection such as high fever, chills, rapid heart rate, fast breathing, or shortness of breath.

Explaining the results of oral glucose tolerance test

Your doctor should get the test results in two to three days. The results are accompanied by reference ranges with higher and lower numerical values. Any value between high and low values ​​is considered normal. Anything outside the reference range is considered abnormally high (often indicated by the letter “H”) or abnormally low (indicated by “L”).

The two-hour OGTT results for adults or children are described below:

  • Normal: less than 140 mg / dL
  • Prediabetes or IgT: 140 and 199 mg / dL
  • Diabetes (reversible): 200 mg / dL and more

If the blood glucose value is above 200 mg / dL, the doctor will repeat the test or use another test to confirm the diagnosis of diabetes. If both tests are positive, the diagnosis is considered conclusive.

The three-hour OGTT results are interpreted differently. To do this, a preliminary diagnosis is made based on one or more high glucose values ​​in one or more of the four blood draws. Abnormal values ​​should be verified with a repeat oral glucose tolerance test.

Typical forecast ranges for three-hour OGTT are as follows:

  • Common fasting: less than 95 mg / dL
  • Normal after one hour: less than 180 mg / dL
  • Normal after two hours: less than 155 mg / dL
  • Normal after three hours: less than 140 mg / dL

If any of these values ​​are higher, the test is repeated in four weeks. After the second test, if two or more values ​​increase, gestational diabetes is definitely diagnosed.


Thyroid Removal Surgery (Thyroidectomy) Overview | Endocrinology

What is thyroidectomy?

A thyroidectomy is a surgical procedure to remove all or part of the thyroid gland and is used to treat diseases of the thyroid gland including:

  • Thyroid cancer
  • Hyperthyroidism (overactive thyroid gland)
  • Large goiters or thyroid nodules causing symptomatic obstruction such as difficulty swallowing or breathing.
  • Multinodular goiter

Thyroidectomy is traditionally a minimally invasive surgery that is performed through a small horizontal incision in the front of the neck. The entire thyroid gland may be removed or just a lobe, part of a lobe, and the isthmus or other structures. Depending on the extent of the operation, patients may need to take levothyroxine, an oral synthetic thyroid hormone.

Thyroidectomy without mutilation

For a select group of patients who are concerned about the possible cosmetic effects of a neck scar, we offer “scarless” thyroidectomy, a technique of removing the thyroid using small oral incisions that removes the scar from the neck. In this procedure, the surgeon accesses the thyroid gland through the patient’s mouth, known as the “transoral” approach. UCSF endocrine surgery is amongst the first programs in the world to pioneer this technique.

A new hybrid procedure using a transoral and submental technique (TOaST) offers patients an additional option, a refinement that combines the transoral approach with a small incision easily hidden just below the chin, offering the following benefits:

  • The decrease in postoperative complications and patient discomfort.
  • The ability to accommodate larger thyroid samples
  • Maintain practically all the cosmetic benefits of traditional surgery without scars.

Types of thyroid surgery

There are several different types of thyroid surgery. The most communal are lobectomy, subtotal thyroidectomy, and total thyroidectomy.

  • Lobectomy: Sometimes a nodule, inflammation, or swelling affects only half of the thyroid gland. When this occurs, a doctor will remove only one of the two lobes. The part left behind must retain part or all of its function.
  • Subtotal thyroidectomy: A subtotal thyroidectomy eliminates the thyroid gland but leaves a small amount of thyroid tissue. This preserves some of the thyroid function. Many people who have this type of surgery develop hypothyroidism, a condition that occurs when the thyroid does not produce enough hormones. This is treated with daily hormonal supplements.
  • Total thyroidectomy: A total thyroidectomy removes all of the thyroid and thyroid tissue. This surgery is suitable when nodules, swelling, or irritation affect the entire thyroid gland or when cancer is present.

Risks of thyroidectomy

Thyroidectomy is generally a safe surgical procedure. However, some people have major or minor complications. Possible complications include:

  • Hemorrhage (bleeding) under the neck wound: If this occurs, the wound protrudes and the neck swells, possibly compressing the internal structures of the neck and interfering with breathing. This is an emergency.
  • Thyroid storm: If thyroidectomy is performed to treat a very overactive gland, there may be an increase in thyroid hormones in the blood. This is a very rare complication because medicines are given before surgery to avoid this problem.
  • Recurrent laryngeal nerve injury: Because this nerve innervates the vocal cords, the injury can cause vocal cord paralysis and produce a hoarse voice, either in the short or long term.
  • Injury to a part of the superior laryngeal nerve: If this occurs, the singing patients may not be able to reach high notes and the voice may lose some projection.
  • Infection in the wound
  • Hypoparathyroidism: If the parathyroid glands cannot be protected or are damaged through surgery, the person may not be able to make enough parathyroid hormone. The parathyroid hormone helps keep blood calcium levels within the normal range. Low production of parathyroid hormone causes low levels of calcium in the blood.

Why is it for

Your doctor may indorse a thyroidectomy if you have conditions such as:

  • Thyroid cancer: Cancer is the most common cause of thyroidectomy. If you have thyroid cancer, removing most, if not all, of your thyroid is likely a treatment option.
  • Non-cancerous enlargement of the thyroid (goiter): Removal of all or part of the thyroid gland is an option if you have a large goiter that is uncomfortable or causes difficulty in breathing or swallowing, or in some belongings if the goiter is causing hyperthyroidism.
  • Overactive thyroid (hyperthyroidism): Hyperthyroidism is a disorder in which the thyroid gland produces too greatly thyroxine hormone. If you have problems with antithyroid medications and do not want radioactive iodine therapy, thyroidectomy may be an option.
  • Suspicious or indeterminate thyroid nodules: Some thyroid nodules cannot be identified as cancerous or non-cancerous after testing a sample from a needle biopsy. Doctors may recommend that people with these nodules have a thyroidectomy if the nodules are at increased risk of being cancerous.


Most people with thyroid cancer have no known risk factors, so most cases of this disease cannot be prevented.

Exposure to radiation, especially in childhood, is a known risk factor for thyroid cancer. Because of this, doctors no longer use radiation to treat less serious illnesses. Imaging tests, such as X-rays and CT scans, also expose children to radiation, but in much lower doses, so it is not clear how much they might increase the risk of thyroid cancer (or other cancers). If there is an increased risk, it is probably small, but to be safe, children should not have these tests unless absolutely necessary. When needed, they should be performed using the lowest dose of radiation that still provides a clear image.

Genetic testing can be done to look for gene mutations found in familial medullary thyroid cancer (MTC). Because of this, most familial cases of TCM can be prevented or treated early by removing the thyroid gland. Once the disease is exposed in a family, the rest of the family associates can be tested for the mutated gene.

If you have a family history of TCM, it is important that you see a doctor who is familiar with the latest advances in genetic counselling and genetic testing for this disease. Removing the thyroid gland in children who carry the abnormal gene will likely prevent cancer that could otherwise be fatal.

Thyroidectomy complications

  • Hypocalcemia (3-5%): Most communal cause of airway obstruction after 24 hours
  • Hematoma (1-2%): Most communal cause of airway obstruction within 24 hours
  • Recurrent injury of the laryngeal nerve (0.77%): Usually causes unilateral damage, stridor, hoarseness
  • Wound infection (0.2-0.5%)

Overview of Adrenalectomy | Endocrinology

What is Adrenalectomy?

There is one adrenal gland above each of your kidneys. The adrenal glands produce different hormones that help regulate metabolism, the immune system, blood pressure, blood sugar, and other basic functions.

Most adrenal gland tumors are noncancerous (benign). You may need surgery to remove the adrenal gland if the lump is producing excess hormones or is large (more than 2 inches or 4 to 5 centimetres). You may also need surgery if the lump is precancerous (malignant) or suspected to be precancerous. This surgery is called adrenalectomy.  You might also need adrenalectomy to remove cancer that has spread (metastasized) from additional location, such as the kidney or lung.

If both adrenal glands are removed, you will need to take supplemental hormone medications. If only one gland is detached, the other will take over full function without the need for ongoing medications.

Types of adrenalectomy

Surgeons may perform adrenalectomy through minimally invasive (laparoscopic) surgery, traditional open surgery, or the use of cryoablation. The procedure they commend depends on the extent and type of tumor or the condition affecting your adrenal gland.

Minimally invasive surgery:  Endocrine surgeons are often capable to use minimally invasive (laparoscopic) surgery for tumors of the adrenal gland because the gland is relatively small. Laparoscopic surgery has many benefits, including smaller scarring, less pain and a shorter recovery period than traditional open surgery.

An alternative approach to laparoscopic surgery is endoscopic posterior adrenalectomy (PRA), in which surgeons make small incisions in your back. Surgeons sometimes use the robotic da Vinci surgical system to perform laparoscopic adrenalectomy.

  • Open surgery: Doctors usually reserve open surgery for large or cancerous (malignant) tumors. They perform open surgery using incisions and traditional tools.
  • Cryoablation: Additionally, doctors may use cryoablation to treat adrenal gland tumors. This procedure uses a CT scan to guide the insertion of a probe that freezes and destroys adrenal tumors. Interventional radiologists may use cryoablation as a treatment option for small tumors that have spread to the adrenal gland (metastasis), especially when surgery involves high risk.

How is adrenalectomy done?

The surgeon will work in one of two ways:

  • Open adrenalectomy: The surgeon may use open surgery if the lump is large or it may be cancerous. The surgeon makes a large open incision (cut) in the abdomen to remove the gland (s).
  • Laparoscopic adrenalectomy: Most commonly, the surgeon makes a few small incisions and performs a minimally invasive procedure. This method uses a laparoscope, which is a thin tube equipped with a tiny video camera so that the surgeon can see what is inside the body. Robotic surgery uses the same incisions but uses wrist tools instead of solid ones. Whether the procedure is laparoscopic or robotic, the procedure can be performed either by placing incisions on the back (posterior approach) or on the side (lateral approach).

Both procedures are equally successful, with the posterior approach providing the advantages of not entering the abdomen. The back method is also preferred in patients with a previous history of upper abdominal incisions and two-sided tumors. Due to the small working area with the posterior approach, only tumors smaller than 6 cm are approached through the back.

Does adrenalectomy remove one gland or both?

The surgeon may remove the tumor, only one gland, or both. The surgery that removes one gland is a unilateral removal of the adrenal gland. Two-sided adrenalectomy removes both glands. People with excess cortisol (Cushing’s syndrome may take a hydrocortisone supplement for about a year after surgery until the remaining gland begins producing enough hormone on its own. For other patients, testing is done after surgery to determine if the patient needs to be on a steroid substitute).

After the adrenalectomy procedure

The hospital stay after surgery is usually 4 to 5 days. The patient can return to his normal activities as soon as he feels ready. Patients are advised to avoid strenuous exercise for 6-8 weeks after surgery.

Benefits of adrenalectomy

The advantages of adrenalectomy treatment are:

  • Smaller scars
  • Less risk of hernia
  • Pain relief after the operation
  • Shortest hospital stay and recovery time

Risks of adrenalectomy

The risks associated with adrenalectomy are:

  • Hormonal imbalance is a potential risk, leading to complex health problems such as slow healing, blood pressure disorders or metabolic disorders.

Other potential risks include

  • Bleeding
  • Bowel disorders
  • Blood clots in the lungs
  • Infections
  • Pain
  • Scarring, or damage to the pancreas.


  • Damage to neighbouring organs
  • Hernia

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.


What is an Adrenoleukodystrophy? | Endocrinology

Overview of Adrenoleukodystrophy

Adrenoleukodystrophy is a genetic condition that damages the membrane (myelin sheath) that insulates nerve cells in the brain. In adrenoleukodystrophy (ALD), your body does not break down long-chain fatty acids (VLCFAs), which cause saturated VLCFAs to form in your brain, nervous system, and adrenal gland.

The most common type of ALD is X-linked ALD, which is caused by a genetic defect on the X chromosome. X-linked ALD affects more men than women who have the disease.

Forms of X-linked ALD:

  • ALD in early childhood: This X-linked form of ALD usually occurs between the ages of 4 and 10. The white matter in the brain is gradually damaged (leukodystrophy), and symptoms get worse over time. If not diagnosed early, childhood-onset ALD can lead to death within five to 10 years.
  • Addison’s disease: The hormone-producing glands (adrenal glands) often do not make enough steroids (adrenal insufficiency) in people with ALD, leading to an X-linked form of ALD called Addison’s disease.
  • Adrenomyeloneuropathy: This adult-onset form of X-linked ALD is a less severe and slowly progressive form that causes symptoms such as a stiff gait and bladder and bowel dysfunction. Women who are carriers of ALD can develop mild adrenal myelitis.

What are the different types?

 ALD can present itself in many forms. Symptoms vary from one another but often get worse over time.

Brain demyelinating ALD:

45% of people with ALD have this type. It is the most serious form of ALD. Symptoms usually begin between the ages of four and eight and include:

  • Attention deficit disorder (ADD)
  • Vision, hearing, and motor function problems.
  • Behaviour problems
  • Hyperactivity
  • Easily tired
  • Clumsy
  • Low blood sugar
  • Eye pain
  • Migraines
  • Viral infections keep coming back
  • Skin appears tanned or tanned

Adrenomyeloneuropathy (AMN):

This adult form of ALD has mild symptoms. Half of those who suffer from it show no signs until they are 20 or 30 years old. Still, like ALD, AMN severely affects brain function. Some early signs:

  • Difficulty to walk
  • Balance problems
  • Changes in the way you walk (how you walk)
  • Numbness or tingling in the legs
  • Arm weakness
  • Need to urinate or defecate
  • Unstoppable
  • It is not possible to have or maintain an erection.

Addison’s disease:

Over time, ALD can cause serious damage to the adrenal glands. It can not be changed. features:

  • Weakness
  • Fatigue
  • Nausea
  • Low blood pressure
  • Blackened skin
  • Abdominal pain

Female ALD:

Women who inherit a mutated gene that causes ALD often do not have a brain disease, but they may show mild symptoms. For the most part, these start after age 35. These may include:

  • Weakness
  • Numbness
  • Joint pain
  • Urinary problems

Symptoms of adrenoleukodystrophy

Symptoms of juvenile brain ALD:

  • Muscle pains
  • Convulsions
  • Difficulty swallowing
  • Hearing loss
  • Problems with understanding language.
  • Vision error
  • Hyperactivity
  • Paralysis
  • Eat
  • Decreased control of fine motor skills
  • Crossed eyes

Signs of adrenomyelopathy:

  • Adequate control of urination
  • Weak muscles
  • Leg strength
  • Visual perceptions are difficult to remember and remember

Signs of adrenal insufficiency or Addison’s disease:

  • Poor appetite
  • Weight Loss
  • Decreased muscle mass
  • Vomiting
  • Weak muscles
  • Eat
  • Dark areas of colour or pigment on the skin

Causes and risk factors of adrenoleukodystrophy

Adrenoleukodystrophy protein (ALDP) helps your body break down very-long-chain fatty acids (VLCFA). If the protein doesn’t do its job, fatty acids will form inside your body. Damages the outer layer of cells within you:

  • Spine
  • Then the Do
  • Kidney glands
  • Testicles

People with ALD have mutations in the gene that makes ALDP. Their bodies don’t make enough ALDP.

Men are usually affected by ALD earlier than women and tend to have more severe symptoms. ALD affects males more than females because it is inherited in the X-linked pattern. This means that the genetic mutation responsible is on the X chromosome. Males have only one X chromosome, while females have two. Because women have two X chromosomes, they have a common gene and a copy with a genetic mutation.

Women who have only one copy of the mutation have far fewer symptoms than men. In some cases, women who carry the gene have no symptoms. A single copy of your gene makes enough ALDP to help mask your symptoms. Most women with ALD have adrenomylopathy. Addison’s disease and juvenile brain ALD are less common.

Diagnosis of adrenoleukodystrophy

The symptoms of ALD mimic other diseases. Tests are needed to differentiate ALD from other neurological conditions. Your doctor may order a blood test to:

  • Look for unusually high-level VLCFA
  • Check your adrenal glands
  • Find the genetic mutation that causes ALD

Damage to your brain can occur if your doctor uses an MRI. Fibroblast cell culture or biopsy samples and skin can also be used to analyze VLCFAs. Children with suspected ALD may need additional tests, including vision screens.

Treatment of adrenoleukodystrophy

There is no cure for adrenoleukodystrophy. However, stem cell transplantation can stop the progression of ALD when the first neurological symptoms appear. Doctors focus on relieving symptoms and slowing the progression of the disease.

Treatment options may include:

  • Stem cell transplantation: It is an option to slow or stop the progression of adrenal cardio dystrophy in children if ALD is diagnosed and treated early. Stem cells can be taken from the bone marrow through a bone marrow transplant.
  • Treatment of adrenal insufficiency: Most people with ALD develop adrenal insufficiency and need regular tests of the adrenal glands. Adrenal insufficiency can be effectively treated with steroids (corticosteroid replacement therapy).
  • Drugs: Your doctor may prescribe medications to relieve symptoms, including seizures and convulsions.
  • Physical therapy: Physical therapy can help relieve muscle pain and reduce muscle stiffness. Your doctor can recommend wheelchairs and other moving equipment if necessary.

In a recent clinical trial, children with early-stage brain ALD were treated with gene therapy as an alternative to stem cell transplantation. The first results of gene therapy are promising. Disease progression was confirmed in 88% of the children who participated in the trial. More research is needed to evaluate the long-term results and safety of gene therapy for brain ALD.


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.