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Adrenal Gland
A.K.A.
3 beta-HSD deficiency
3β-HSD deficiency
3β-HSD deficiency congenital adrenal hyperplasia
3β-hydroxysteroid dehydrogenase deficiency
3 beta-ol dehydrogenase deficiency
3b-hydroxysteroid dehydrogenase deficiency
type II 3β-hydroxysteroid dehydrogenase deficiency
a. Description
Is a rare genetic disorder of steroid biosynthesis that results in decreased production of all
3 groups of adrenal steroids, which include mineralocorticoids, glucocorticoids, and
sex steroids.
Also affects hormone-producing glands including the gonads (ovaries in females and
testes in males) and the adrenal glands.
salt-wasting type, hormone production is extremely low; lose large amounts of sodium in
their urine, which can be life-threatening; are usually diagnosed soon after birth due to
complications related to a lack of salt reabsorption, including dehydration, poor feeding,
and vomiting.
Non-salt-wasting type produce enough hormone to allow sodium reabsorption in the
kidneys.
non-classic type have the mildest symptoms and do not experience salt wasting.
b. Etiology
Mutations in the HSD3B2 gene cause 3β-HSD deficiency. The HSD3B2 gene provides
instructions for making the 3β-HSD enzyme. This enzyme is found in the gonads and adrenal
glands. The 3β-HSD enzyme is involved in the production of many hormones, including cortisol,
aldosterone, androgens, and estrogen. Cortisol has numerous functions such as maintaining
energy and blood sugar levels, protecting the body from stress, and suppressing inflammation.
Aldosterone is sometimes called the salt-retaining hormone because it regulates the amount of
salt retained by the kidney. The retention of salt affects fluid levels and blood pressure.
Androgens and estrogen are essential for normal sexual development and reproduction.
3β-HSD deficiency is caused by a deficiency (shortage) of the 3β-HSD enzyme. The amount of
functional 3β-HSD enzyme determines whether a person will have the salt-wasting or non-salt-
wasting type of the disorder. Individuals with the salt-wasting type have HSD3B2 gene
mutations that result in the production of very little or no enzyme. People with the non-salt-
wasting type of this condition have HSD3B2 gene mutations that allow the production of some
functional enzyme, although in reduced amounts.
d. Treatment
o Hydrocortisone tablets are the preferred glucocorticoid choice for treatment. Tablets may be
crushed in liquid immediately prior to dosing for infants and small children. Premixed, oral
suspensions of hydrocortisone should be avoided, as should long-acting glucocorticoid
preparations in pediatric patients.
2. ADRENAL CANCER
a. Causes
- Excessive production of the hormones androgen and estrogen.
- Symptoms may also arise from large tumors pressing on organs of the body. Symptoms
of excessive hormone production are easier to spot in children than adults because
physical changes are more active and visible in puberty. Some signs of adrenal cancer in
children are:
excessive hair growth (pubic, underarm, and facial)
enlarged penis
enlarged clitoris
large breasts in boys
early puberty in girls
- Symptoms of adrenal cancer in adult women are usually harder to detect. They usually do
not appear until the tumor is large enough to press on the organs. In men, if the adrenal
tumor causes increased estrogen, there may be slight enlargement of the breasts and
noticeable tenderness. Women with tumors that cause increases in androgen may notice
facial hair growth or deepening of the voice. Some other symptoms are:
high blood pressure
weight gain
irregular periods
easy bruising
depression
frequent urination
muscle cramps
c. Risk factors
Biopsy
Computed tomography (CT) scan
Positron emission tomography (PET) scan
Magnetic resonance imaging (MRI)
Adrenal angiography
Pituitary Gland
1. PROLACTINOMA
a. Symptoms
There may be no noticeable signs or symptoms from prolactinoma. However, signs and
symptoms can result from excessive prolactin in your blood (hyperprolactinemia) or from
pressure on surrounding tissues from a large tumor. Because elevated prolactin can disrupt the
reproductive system (hypogonadism), some of the signs and symptoms of prolactinoma are
specific to females or males.
Erectile dysfunction
Decreased body and facial hair
Uncommonly, enlarged breasts (gynecomastia)
In both sexes, prolactinoma can cause:
Low bone density
Reduction of other hormone production by the pituitary gland (hypopituitarism) as a result of
tumor pressure
Loss of interest in sexual activity
Headaches
Visual disturbances
Infertility
b. Causes:
Prolactinoma is one type of tumor that develops in the pituitary gland. The cause of these tumors
is unknown.
The pituitary gland is a small bean-shaped gland situated at the base of your brain. Despite its
small size, the pituitary gland influences nearly every part of your body. Its hormones help
regulate important functions such as growth, blood pressure and reproduction.
Other possible causes of prolactin overproduction include medications, other types of pituitary
tumors, an underactive thyroid gland, an injury to the chest, pregnancy and breast-feeding.
c. Risk factors
Most prolactinomas occur in women between 20 and 34 years old, but can occur in both
sexes at any age. The disorder is rare in children.
d. Complications
Vision loss. Left untreated, a prolactinoma may grow large enough to compress your optic
nerve.
Hypopituitarism. With larger prolactinomas, pressure on the normal pituitary gland can
cause dysfunction of other hormones controlled by the pituitary, resulting in hypothyroidism,
adrenal insufficiency and growth hormone deficiency.
Bone loss (osteoporosis). Too much prolactin can reduce production of the hormones
estrogen and testosterone, resulting in decreased bone density and an increased risk of
osteoporosis.
Pregnancy complications. During a normal pregnancy, a woman's production of estrogen
increases. In a woman with a large prolactinoma, these high levels of estrogen may cause
tumor growth and associated signs and symptoms, such as headaches and changes in vision.
If you have prolactinoma and you want to become or are already pregnant, talk to your doctor.
Adjustments in your treatment and monitoring may be necessary.
Gonads
1. Turner Syndrome
- a chromosomal condition that affects
development in females.
- It is caused by the complete or partial lack of
one of the female sex chromosomes.
- One third to one half of individuals with
Turner syndrome are born with a heart defect,
such as a narrowing of the large artery
leaving the heart (coarctation of the aorta) or
abnormalities of the valve that connects the
aorta with the heart (the aortic valve).
- occurs in about 1 in 2,500 newborn girls
worldwide, but it is much more common
among pregnancies that do not survive to
term (miscarriages and stillbirths
a. Signs and Symptoms
b. Diagnosis
c. Medical Management
a. Symptoms
The symptoms of PCOS vary, and may include the following:
Irregular periods—you may have your period less than once a month (usually less than 8 per
year), or not at all; you may also have heavy bleeding
Weight gain (yet some women with PCOS are thin)
Excess hair growth on the face, chest, back, stomach, or upper arms and inner thighs
Acne
Oily skin
Patches of thick, dark skin (called acanthosisnigricans) on the neck, arms, breasts, or thighs
Thinning hair
Difficulty conceiving
b. Causes
The exact cause of PCOS is unknown.
some teenagers and women with the condition make extra testosterone. Testosterone is
typically thought of as a male hormone, but women’s bodies make it too. Higher than
normal testosterone levels cause the unwanted hair growth and acne that many women
with PCOS experience. It may also lead to irregular periods.
Women with PCOS also have insulin resistance, which means that their bodies do not
respond well to the hormone insulin that controls blood sugar levels. This causes blood
sugar (glucose) levels to rise and the body to produce even more insulin, which
researchers think may lead to greater production of testosterone, increased appetite, and
development of type 2 diabetes.
Hereditary
LIFESTYLE CHANGES
If you are overweight, losing even 5-10 percent of your current body weight can help
regulate your periods, improve cholesterol levels, and may improve excess hair growth.
Regular exercise can help you lose weight as well as reduce your risk for diabetes and heart
disease. Thirty minutes of moderate to vigorous exercise each day has been shown to reduce
the risk for development of diabetes and the metabolic syndrome (a group of risk factors that
increase your risk for heart disease and diabetes)
Eating a low-calorie diet with limited processed foods is helpful for weight loss. Processed
foods include:
Cakes, cookies, and other baked goods
Canned or frozen foods high in sodium
Chips
Fast food
Fried foods
Hot dogs, chicken nuggets, and deli meats
Pasta, bread, crackers and other foods made from white flour instead of whole grain
Soda
Sugary cereals
White rice (brown or wild rice is better)
Talking to a registered dietitian may help you make better food choices that may help with
weight loss.
c. Medications
Birth control pills: An oral contraceptive pill containing both estrogen and progestin can
help control symptoms long term. The pill decreases testosterone levels in your body, which
reduces excessive hair growth and acne, helps get your period on a more regular cycle, and
may reduce your risk for endometrial cancer (cancer of the lining of the uterus). You could
also use the vaginal ring or skin patch containing both estrogen and progestin.
Diabetes medication: Female teens and women with PCOS who have type 2 diabetes or pre-
diabetes, and do not respond to diet changes and exercise may benefit from taking the
diabetes medication metformin. This drug also may help regulate your period if you have
PCOS and cannot take birth control pills. Metformin is not approved by the U.S. Food and
Drug Administration for these purposes.
Agents to reduce hair growth: Medications that block the effects of testosterone on the skin
(such as spironolactone, flutamide, and finasteride) may help reduce excess hair growth.
These agents should not be used by women who are pregnant or planning to become
pregnant as they have been linked to birth defects. A cream containing the medication
eflornithine also is available to slow hair growth on the face. In addition, you can remove
excess hair growth with wax, shaving, electrolysis, or laser treatment.
Infertility treatment: Clomiphene can be used to help stimulate ovulation (help your ovaries
release eggs) in women with problems getting pregnant.
Thyroid Gland
1. Multiple Endocrine Neoplasia Type 1
Most people who have the genetic trait for MEN1 will develop hyperparathyroidism by the age
of 50.
2. Multiple Endocrine Neoplasia (MEN) II
- Is a disorder passed down through families in which one or more of the endocrine
glands are overactive or form a tumor. Endocrine glands most commonly involved
include:
• Adrenal gland (about half the time) - pheochromocytoma
• Parathyroid gland (20% of the time) - medullary carcinoma of the thyroid.
• Thyroid gland (almost all of the time) – MEN II
a. Causes
A defect in a gene called RET.
There are two subtypes of MEN II -- MEN IIa and IIb. MEN IIb is less common.
b. Symptoms
To diagnose this condition, the health care provider looks for a mutation in the RET gene.
This can be done with a blood test. Additional tests are done to determine which hormones
are being overproduced.
Imaging tests
• Abdominal CT scan
• Imaging of the kidneys or ureters
• MIBG scintiscan
• MRI of abdomen
• Thyroid scan
• Ultrasound of the thyroid
Blood tests
• Calcitonin level
• Blood alkaline phosphatase
• Blood calcium
• Blood parathyroid hormone level
• Blood phosphorus
• Urine catecholamines
• Urine metanephrine
• Adrenal biopsy
• Electrocardiogram (ECG)
• Thyroid biopsy
• Parathyroid biopsy
d.Treatment
- Pheochromocytoma - Surgery
- Medullary carcinoma of the thyroid, the thyroid gland and surrounding lymph nodes
must be totally removed. Thyroid hormone replacement therapy is given after
surgery.
- If a child is known to carry the RET gene mutation, surgery to remove the thyroid
before it becomes cancerous is considered. This should be discussed with a physician
who is very familiar with this condition. It would be done at an early age (before age
5) in people with known MEN IIa, and before age 6 months in people with MEN IIb.
Outlook (Prognosis)
e. Prevention
Screening close relatives of people with MEN II may lead to early detection of the syndrome
and related cancers, allowing potentially preventive intervention.
Alternative Names
Sipple syndrome; MEN II
2. Hashimoto’s Thyroiditis
a. Causes
The exact cause of Hashimoto's is not known, but many factors are believed to play a
role. They include:
-Genes. People who get Hashimoto's often have family members who have thyroid
disease or other autoimmune diseases. This suggests a genetic component to the disease.
Hormones
- affects about 7 times as many women as men, suggesting that sex hormones may play
a role. Furthermore, some women have thyroid problems during the first year
after having a baby. Although the problem usually goes away, as many as 20% of
these women develop Hashimoto's years later.
Excessive iodine
- Research suggests certain drugs and too much iodine, a trace element required by
your body to make thyroid hormones, may trigger thyroid disease in susceptible
people.
Radiation exposure
- Ex. atomic bombs in Japan, the Chernobyl nuclear accident, and radiation treatment
for a form of blood cancer called Hodgkin's disease.
b. Symptoms
Enlarged thyroid, called a goiter. The goiter may cause the front of your neck to look
swollen. A large goiter may make swallowing difficult.
weight gain
fatigue
paleness or puffiness of the face
joint and muscle pain
constipation
inability to get warm
difficulty getting pregnant
joint and muscle pain
hair loss or thinning, brittle hair
irregular or heavy menstrual periods
depression
slowed heart rate
c. Treatments
There is no cure for Hashimoto's, but replacing hormones withmedication can regulate
hormone levels and restore your normalmetabolism.
The pills are available in several different strengths. The exact dose will depend on a number of
factors, including:
age
weight
severity of hypothyroidism
other health problems
other medicines that may interact with synthetic thyroid hormones
Thyroid - is a butterfly-shaped gland in the base of the neck. It secretes hormones that are
essential for regulating your body's metabolism.
a. Causes
Cause is still not clear
Begins when a cell develops errors in its DNA. When the DNA is altered or damaged,
these genes may not function properly, causing cells to grow out of control and
eventually form a mass (tumor) of malignant cells.
b. Signs and symptoms
Fast-growing lump in the neck, just below the Adam's apple
Pain in the neck or throat
Hoarseness or other changes in your voice
Shortness of breath
Dysphagia
c. Risk factors
Being female
Being older
Having a history of radiation treatments to the head and neck
Complications
Physical exam. Your doctor will examine your neck, checking the size of your thyroid
and seeing whether your lymph nodes are swollen.
Blood tests. They may reveal abnormalities in your thyroid function that give your doctor
more information about your condition.
Imaging tests. They can help your doctor determine whether an abnormal growth is
present in the thyroid. Imaging tests may include ultrasound, CT scan, MRI and positron
emission tomography (PET).
Removing a sample of thyroid tissue for testing (biopsy). During a thyroid biopsy, a
fine needle is passed through the skin of your neck guided by ultrasound images. The
needle is attached to a syringe, which withdraws a sample of thyroid tissue. The sample is
analyzed in a laboratory for signs of cancer.
1. Surgery
Total or near-total removal of the thyroid (thyroidectomy) is the most common treatment for
Hurthle cell cancer.
During thyroidectomy, the surgeon removes all or nearly all of the thyroid gland and leaves tiny
edges of thyroid tissue near small adjacent glands (parathyroid glands) to lessen the chance of
injuring them. The parathyroid glands regulate your body's calcium level.
Surrounding lymph nodes may be removed if there's suspicion that the cancer has spread to
them.
Injury to the nerve that controls the voice box (recurrent laryngeal nerve), which could
cause temporary or permanent hoarseness or a loss of your voice
Damage to the parathyroid glands
Excessive bleeding
After surgery, your doctor will prescribe the hormone levothyroxine (Synthroid, Unithroid,
others) to replace the hormone produced by your thyroid. You'll need to take this hormone for
the rest of your life.
Radioactive iodine therapy involves swallowing a capsule that contains a radioactive liquid.
Radioactive iodine therapy may be recommended after surgery because it can help destroy any
remaining thyroid tissue, which can contain traces of cancer. Radioactive iodine therapy may
also be used if Hurthle cell cancer has spread to other parts of the body.
Sore throat
Dry mouth
Decrease in taste sensations
Neck tenderness
Nausea
3. Radiation therapy
Radiation therapy uses high-powered energy beams, such as X-rays, to kill cancer cells. During
radiation therapy, you're positioned on a table and a machine moves around you, delivering the
radiation to specific points on your body.
Radiation therapy may be an option if cancer cells remain after surgery and radioactive iodine
treatment or if Hurthle cell cancer spreads.
Sore throat
Sunburn-like skin rash
Fatigue
Chemotherapy
Sorafenib (Nexavar) is a drug treatment for metastatic or aggressive thyroid cancer that doesn't
respond to radioactive iodine therapy. Side effects include high blood pressure, diarrhea, fatigue,
skin rash and weight loss.
4. THYROID CANCER
A neck lump or nodule is the most common symptom of thyroid cancer. You may feel a
lump, notice one side of your neck appears to be different, or your doctor may find it
during a routine examination. Sometimes a thyroid tumor is found during diagnostic
ultrasound or imaging tests performed for another reason. If the tumor is large, it may
cause neck or facial pain, shortness of breath, difficulty swallowing, cough unrelated to a
cold, hoarseness or voice change.
a. Causes
Lifetime risk to develop a thyroid cancer is less than 1%; women .83% and men .33% in
the United States.
Caucasian Americans are more affected than African-Americans.
The cause of thyroid cancer is not always determined; its development is often related to
radiation exposure, family history, and/or age. Routine x-rays, such as those performed
during a dental exam or mammogram, do not cause thyroid cancer. Radiation therapy
and/or exposure to radiation during childhood may contribute to development of thyroid
cancer.
A family history of medullary thyroid cancer. Ex. MEN 2A and MEN 2B are types
of multiple endocrine neoplasia (multiple endocrine tumors) that pass from one generation
to the next, and these types always involve medullary thyroid cancer.
b. Diagnosis
Complete medical history, reviews possible factors, other health problems, performs a
physical examination, and orders tests such as blood work.
During the physical exam, the doctor palpates (feels) neck, which may require patient to
swallow and flex and bend your neck. Doctor will pay particular attention to the thyroid
gland and surrounding tissues, such as the lymph nodes. The number, size, shape, and
firmness of the nodule(s) are carefully examined. The doctor correlates the physical
findings with your medical history and reported symptoms, such as pain or hoarseness.
c. Laboratory Tests
Blood is drawn to test your thyroid gland function. Results from a thyroid-stimulating
hormone (TSH) test either confirms or rules out hypothyroidism (too low)
or hyperthyroidism (too high) levels. If your thyroid gland does not function normally, a
T3 or Free T3 (triiodothyronine) and T4 (thyroxine) test is run to determine your thyroid
hormone activity levels. It is important to remember that thyroid function tests are not
indicators of thyroid cancer and most people with thyroid cancer have normal thyroid
function.
If you have a family history of medullary thyroid cancer, the doctor will test your blood
calcitonin and calcium levels. Calcitonin is a hormone important to calcium and
phosphorus metabolism and bone growth. An elevated calcitonin level can indicate
cancer.
1. Thyroid Scan
A thyroid scan, or nuclear medicine scan, tests the gland's function. After a
radioactive tracer (dye—iodine or technetium) is injected, a special camera captures
images of the thyroid gland and measures the amount of dye the gland (nodules)
absorbs.
Normal and abnormal test results are reported as functioning (normal), cold (underactive),
or hot(overactive). Suspicious cold nodules can be further evaluated by a procedure called fine
needle aspiration (needle biopsy). Hot nodules do not generally require biopsy.
If the doctor has reason to think the nodule may be cancerous, he or she may recommend a
biopsy using a larger needle, open biopsy, or removal of one side of the thyroid gland
(lobectomy). These procedures are performed under general anesthesia (sedation) in an operating
room.
Some fine needle aspiration biopsy results are indeterminate. This mean is it not exactly known
if the nodule is benign or malignant. To help patients avoid unnecessary thyroid surgery, new
molecular testing (gene expression classification) can be performed to help confirm an accurate
diagnosis.
3. Imaging Studies
Results from imaging studies may assist your doctor in confirming your thyroid
cancer diagnosis. Different types of imaging studies include x-ray, computed
tomography (CT scan), magnetic resonance imaging (MRI), and positron emission
tomography (PET scan).
4. Laryngoscopy
Depending on your tumor's characteristics, and the close proximity of your thyroid
gland to your voice box (larynx), your doctor may recommend laryngoscopy. A
laryngoscope is a lighted and flexible tube with magnification used to examine your
larynx.
Thyroid tumors are graded on a scale of zero to 4 with 4 being the most severe. Further, each
type of thyroid tumor—papillary, folicullar, medullary, and/or anaplastic—are graded according
to what is characteristic for that thyroid cancer type.1
Your doctor will explain how he or she classified your tumor, how the stage affects treatment
options, and prognosis (disease outcome).
d. Treatments
Doctor stages your thyroid tumor in
order to develop the most effective
treatment plan. Thyroid cancer
treatment almost always includes
surgery, although the type of surgery is
influenced by the patient's age and
tumor size. Some small thyroid cancer
tumors are cured only with surgery.
1. Partial thyroidectomy or lobectomy is surgical removal of part of the thyroid
gland such as the left or right side (lobe) affected by the tumor.
2. Total thyroidectomy is complete surgical removal of the thyroid gland.
The non-surgical treatments summarized below may or may not be included with your thyroid
cancer treatment plan.
3. Radioactive Iodine Therapy
Surgery may be followed by systemic radioactive iodine therapy (radioiodine I-131, pill
therapy) to destroy cancerous thyroid tissue not surgically removed. Your treatment team
usually includes a nuclear medicine specialist or endocrinologist, who administers the
therapy as a pill. I-131 enters the bloodstream, concentrates in the thyroid gland and
selectively destroys any remaining thyroid tissue and cancer cells. Thyroid cells are the
main cells in the body that absorb iodine, so the radioactive iodine does not affect any
other cells.
4. Radiation Therapy
External radiation, or external-beam, therapy is the most common type and is received as
an outpatient. The purpose of treatment is to kill cancer cells, shrink the tumor, and
relieve symptoms using high-energy radiation. However, external radiation is used in
only rare situations for thyroid cancer.
5. Chemotherapy
Chemotherapy uses chemical agents (drugs) to destroy cancer cells. Unfortunately,
chemotherapy kills cancerous and normal cells. Chemo is a systemic treatment—that
means the drug(s) are given by pill orally or injected into a vein. This treatment is
called systemic because the drug enters the bloodstream and circulates throughout the
entire body. Sometimes chemotherapy is combined with external-beam radiation therapy.
Chemotherapy plays very little role in thyroid cancer except for very aggressive cancers
such as anaplastic thyroid cancer.
6. Whole Body Thyroid Scan
Depending on the type of thyroid cancer and the treatment, a whole body thyroid
scan may be performed to help measure therapy progress. This type of test can detect if
cancer has spread.
7. Complementary and Alternative Therapies
It is normal to feel anxious, apprehensive, and depressed as you're going through thyroid
cancer treatment. Many alternative therapies can help you feel better and change your
focus to a more positive outlook. Many patients have found musical or artistic self-
expression beneficial. Visualization, imagery, or mind-body involvement such as offered
by Tai Chi or yoga can help enhance life.
a. Symptoms
-Even though it is painless, a thyroid nodule alone may be enough to bring you to the doctor's
office—it's often apparent by sight or touch. But thyroid nodules can cause other signs and
symptoms.
- throat pain
- difficulty swallowing or breathing
- hoarse voice
b. Causes
As with all types of thyroid cancer, papillary thyroid cancer (also known as papillary
thyroid carcinoma) has no known cause. Though researchers believe gene mutations are
involved in papillary thyroid cancer's development, they don't often know why these
genetic changes occur.
Thyroid cells become cancerous when genetic abnormalities cause them to mutate. These
abnormalities are often caused by environmental factors (such as radiation exposure). In
fewer cases, gene abnormalities may be inherited. But often, it's not understood why they
occur.
These gene mutations make cells grow and multiply. And unlike healthy cells, these
abnormal cells do not die. As these cells grow in number, they eventually form a tumor.
From there, they can also attack healthy tissues in other parts of the body.
c. Risk Factors
There are 4 main types of thyroid cancer, with papillary thyroid cancerbeing the most
common. Having any of the risk factors listed below may increase the likelihood that
you will develop any form of thyroid cancer, including papillary thyroid cancer:
A family history of thyroid cancer
A personal or family history of goiters
Whole-body radiation for bone marrow treatment
Exposure to high levels of radiation caused by nuclear accidents or weapons testing
Having a personal or family history of certain genetic syndromes, such as Cowden
syndrome (a disorder characterized by benign, tumor-like growths on the skin and
mucous membranes called hematoma)
e.Complications
Recurrent thyroid cancer may occur years—even decades—after the initial treatment for
the disease. Fortunately, though, recurrent thyroid cancer is treatable.
Patients with stages 1 or 2 thyroid cancer have an 85% chance of reaching complete
remission after their initial cancer treatment. The 5-year survival rate is 80% for stage 1
patients and 55% for stage 2. Patients with stage 3 or 4 cancer have similar 5-year
survival rates—between 15% and 35%
f. Prevention or treatment