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Submitted By: Group
 Adrenal Gland


 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.

 Three types of 3β-HSD deficiency:

 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
 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.

***How do people inherit 3-beta-hydroxysteroid dehydrogenase deficiency?

This condition is inherited in an autosomal recessive pattern, which means both copies of the
gene in each cell have mutations. The parents of an individual with an autosomal recessive
condition each carry one copy of the mutated gene, but they typically do not show signs and
symptoms of the condition.

c. Signs and Symptoms

 Males with any type of 3β-HSD deficiency

 opening of the urethra on the underside of the penis

 external genitalia that do not look clearly male or female
(ambiguous genitalia).
 infertility

 Females with 3β-HSD deficiency

 may have slight abnormalities of the external genitalia at birth.

 experience irregular menstruation, premature pubic hair growth
 excessive body hair growth (hirsutism)
 Infertility

d. Treatment

 Classic 3-beta–hydroxysteroid dehydrogenase (3BHSD) deficiency: Patients with classic salt-

losing 3-beta–hydroxysteroid dehydrogenase require replacement of glucocorticoids,
mineralocorticoids, and sex steroids.

o Exogenous orally administered hydrocortisone (or other glucocorticoid) suppresses

adrenocorticotropic hormone (ACTH) secretion and decreases plasma concentrations of
pregnenolone, 17-hydroxypregnenolone, and dehydroepiandrosterone (DHEA).

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.

o Mineralocorticoid replacement is achieved by the oral administration of fludrocortisone

acetate (9-alpha-fluorohydrocortisone, Florinef). Patients with non–salt-losing variants do not
require mineralocorticoid replacement.
o At puberty, patients with complete 3-beta–hydroxysteroid dehydrogenase deficiency require
sex steroid replacement, including testosterone in males and cyclic estrogen-progesterone
therapy in females. Such therapy promotes development of secondary sexual characteristics
in both males and females, and cyclic menstrual bleeding in 46,XX females.

 Late-onset (nonclassic) 3-beta–hydroxysteroid dehydrogenase deficiency: The need for

replacement therapy varies, depending on the severity of the defect. Hydrocortisone (or
other glucocorticoid) replacement suppresses excess androgens in children with
premature pubarche and may correct menstrual irregularities and decrease hirsutism and
acne in pubertal and postpubertal females.

 Patients with classic salt-losing 3-beta–hydroxysteroid dehydrogenase require

replacement of glucocorticoids, mineralocorticoids, and sex steroids.


- Is a rare tumor afflicting only one or two persons per one

million population.
- Typically an aggressive cancer
- Usually occurs in adults, and the median age at diagnosis is
44 years. Although potentially curable at early stages, only
30% of these malignancies are confined to the adrenal
gland at the time of diagnosis. Because these tumors tend to
be found years after they began growing, they have the
opportunity to invade nearby organs, spread to distant organs (metastasize) and cause
numerous changes in the body because of the excess hormones they produce.
- Spread to distant organs (metastasis) occurs most commonly to the abdominal cavity,
lungs, liver, and bone.

a. Causes
- Excessive production of the hormones androgen and estrogen.

b. Signs and Symptoms

- 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

 Beckwith-Wiedemann syndrome (abnormal growth disorder with large body and

 Li-Fraumeni syndrome (inherited disorder with an increased incidence of cancers)
 familial adenomatous polyposis (inherited condition with many polyps in the large
 Multiple endocrine neoplasia (many tumors, benign or malignant, in glands that
produce hormones)
 Smoking is also believed to increase the risk of adrenal cancer, but it has yet to be
proven conclusively.

d. Tests and Diagnosis

 Biopsy
 Computed tomography (CT) scan
 Positron emission tomography (PET) scan
 Magnetic resonance imaging (MRI)
 Adrenal angiography

e. Treatment and Drugs

 Laparoscopic adrenalectomy - done when a surgeon makes small incisions in the

abdomen and removes the tumor using a small camera.
 Trans-abdominal surgery - involves a large incision in the abdomen and removal of
the tumor.
 Posterior surgery - involves an incision being made in the back for tumor removal.
 Thoracoabdominal surgery - is done to remove a particularly large tumor. It involves
an incision through the abdomen and chest.
- If the tumor has metastasized or spread to other parts of the body, it may be treated with
radiation or chemotherapy. For tumors that are too big to be removed safely,
Cryoablation, or the destruction of tumor cells with freezing, may be performed.
Medication like mitotane, which prevents the adrenal glands from producing steroid
hormones, may also be prescribed if you have stage II, III, or IV adrenal cancer.

 Pituitary Gland


Prolactinoma is a condition in which a noncancerous tumor (adenoma) of the pituitary

gland in your brain overproduces the hormone prolactin. The major effect is decreased levels of
some sex hormones — estrogen in women and testosterone in men.

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.

In females, prolactinoma can cause:

 Irregular menstrual periods (oligomenorrhea) or no menstrual periods (amenorrhea)

 Milky discharge from the breasts (galactorrhea) when not pregnant or breast-feeding
 Painful intercourse due to vaginal dryness
 Acne and excessive body and facial hair growth (hirsutism)
In males, prolactinoma can cause:

 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
 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
 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

 short stature: This is the most common sign of TS

 undeveloped sex features: This includes lack of breast development, delayed
menstruation, and undeveloped feminine body shape.
 mouth and jaw abnormalities: Girls with TS may have high-arched roof of mouth,
crowded teeth, and a receding lower jaw.
 broad chest
 droopy eyes
 low-set ears
 webbed neck: This is extra skin around the neck.
 low hairline: In girls with TS, their hair extends down back of the neck toward the
 fingernails and toenails that point slightly upward
 swollen hands and feet: This sign is usually present only at birth.
 increased angulation at the elbow

b. Diagnosis

 Pregnancy and birth

 May be suspected in pregnancy during a routine UTZ
Lymphoedema, a condition that causes swelling in the body’s tissues, can affect
unborn babies with TS, and may be visible on an UTZ
 Sometime, TS is diagnosed at birth as a result of heart problems, kidney problems
or Lymphoedema
 Childhood
 If a girl has the typical characteristics and symptoms of TS
 Often identified during childhood and in some cases, a diagnosis is not made until
 Karyotyping
 A test that involves analysing the 23 pairs of chromosomes.
 Can be carried out while the baby is inside the womb via amniocentesis, or after
birth by taking a sample of the baby’s blood

c. Medical Management

 Growth hormone therapy

 Oestrogen and progesterone replacement therapy
 Psychological therapy

2. Polycystic Ovary Syndrome (PCOS) in Female Teenagers and Women

- A common condition that causes a
range of symptoms, including irregular
periods, unwanted hair growth, acne,
and weight problems. Symptoms may
start when a female first get her period,
but sometimes don’t begin until early to
- Condition can increase your risk
for diabetes and heart disease in the future. Also, lifestyle changes as well as medications
can help manage the symptoms of PCOS.
- PCOS comes from the small cysts (fluid-filled sacs) that some women with this condition
develop on their ovaries. The ovaries are the almond-shaped organs in the female
reproductive system responsible for making hormones (estrogen and progesterone) and also
storing and releasing eggs.

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

 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

- Commonly involves tumors of pancreas, parathyroid

glands, or pituitary gland. Most often, the tumors first
appear in the parathyroid glands and the first sign of the
disease is symptoms of overactive parathyroid glands
(hyperparathyroidism), which means that the glands
release too much calcium into the bloodstream. A person
may have hyperparathyroidism for many years with no
symptoms or have symptoms such as kidney stones, bone
thinning, nausea and vomiting, high blood pressure
(hypertension), weakness, and fatigue.

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
• 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

• Medullary carcinoma of the thyroid

• Pheochromocytoma
• Parathyroid adenoma
• Parathyroid hyperplasia

c. Exams and Tests

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.

A physical examination may reveal:

• Enlarged lymph nodes in the neck

• Fever
• High blood pressure
• Rapid heart rate
• Thyroid nodules

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

Other tests or procedures

• Adrenal biopsy
• Electrocardiogram (ECG)
• Thyroid biopsy
• Parathyroid biopsy

- 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
- 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)

Pheochromocytoma is usually not cancerous (benign). While medullary carcinoma of the

thyroid is a very aggressive and potentially fatal cancer, early diagnosis and surgery can
often lead to a cure. Surgery does not cure the underlying MEN II.
Possible Complications
The spread of cancerous cells is a possible complication.
When to Contact a Medical Professional
Call your health care provider if you notice symptoms of MEN II or if someone in your
family receives such a diagnosis.

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.K.A Hashimoto's disease

- Is anautoimmune disease, a disorder in which the immune system turns against the
body's own tissues. In people with Hashimoto's, the immune system attacks the thyroid.
This can lead to hypothyroidism, a condition in which the thyroid does not make enough
hormones for the body's needs.

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
 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

3. Hurthle cell thyroid cancer (Hurthle (HEERT-luh)

 Is also called Hurthle cell carcinoma or Oxyphilic cell carcinoma.

 is a rare cancer that affects the
thyroid gland
 Hurthle cell cancer can be more
aggressive than other types of
thyroid cancer.
 most common treatment is
surgery to remove the thyroid

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

d. Tests and diagnosis

 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.

e. Treatments and drugs

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

Risks associated with thyroidectomy include:

 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.

2. Radioactive iodine therapy

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.

Temporary side effects of radioiodine therapy can include:

 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.

Side effects may include:

 Sore throat
 Sunburn-like skin rash
 Fatigue


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.

 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
 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
 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
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)

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.

2. Fine Needle Aspiration (FNA)

Depending on the size of the nodule, your doctor may perform fine needle
aspiration in his office. An anesthetic numbs the area, although is usually not painful.
Small tumors (less than half an inch) may require biopsy using ultrasound to guide
needle placement. Fine needle aspiration usually involves taking several samples that
are microscopically examined by a pathologist.

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
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
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

Thyroid Tumor Staging

 Staging is a medical practice that is used to standardize classification of thyroid tumors.
It helps doctors communicate with each other about a patient's tumor. It also helps your
doctors provide you with valuable information about your thyroid tumor.

American Joint Committee on Cancer's TNM System—Tumor Node Metastasis

T Indicates tumor size and if it has spread
N Indicates the degree of spread to the local lymph nodes
M Indicates metastasis; if the tumor has spread beyond the neck (ie, lungs)

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.


(Thyroid Nodules and Swollen Lymph Nodes)
- A.K.A. papillary thyroid carcinoma, is the most common form of thyroid cancer2.

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
- 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
 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)

Primary risk factors for thyroid cancer:

 more common in women than in men
 People under the age of 50 are more likely to develop papillary thyroid cancer, with
people aged 30 to 50 at the highest risk.
• Fine Needle Aspiration Biopsy-To determine if a thyroid nodule is cancerous, doctors use
a fine needle aspiration biopsy (FNA). This is usually the first test doctors will use if they
suspect thyroid cancer—and in some cases, it may be the only test used.
• Imaging Tests- An ultrasound shows whether the thyroid nodule is fluid-filled or solid
(solid nodules are more likely to be cancerous). Plus, it highlights all the thyroid nodules and
nearby lymph nodes. Another benefit of ultrasound is that it helps doctors accurately guide
the needle when they perform a fine needle aspiration biopsy.
• Blood Tests- Though blood tests alone can't diagnose papillary thyroid cancer; they can
determine if you have healthy levels of thyroid-stimulating hormone (TSH).


 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

 Radiation therapy (through x-ray tests, for example)

 Surgery to remove your thyroid before a thyroid cancer diagnosis is ever made. This
may prevent thyroid cancer from developing.

 Frindik J.P.,Windle M.L.&Bercu B.B (11 February 2014). 3-Beta-Hydroxysteroid

Dehydrogenase Deficiency Medication. Retrieved from

 U.S. National Library of Medicine (7 December 2015). 3-beta-hydroxysteroid

dehydrogenase deficiency. Retrieved from
 Mayo Clinic Staff. (2015). Mayo Foundation for Medical Education and Research. Retrieved
December 10, 2015, from Mayo Clinic:
 G. Azizi, J. M. Keller, M. Lewis, K. Piper, D. Puett, K. M. Rivenbark, and C. D. Malchoff
Association of Hashimoto's thyroiditis with thyroid cancer. Retrieved from