biochemistry

1. Dow University of Health Sciences
Post RN-BSN
Year I Semester I
Biochemistry
Assignment # 4
Name: Faisal Joel Father Name: Mushtaq Masih
Enrolment No: 011
Assignment submitted to; DR Uzma

2. EXPLAIN PATHOLOGIES RELATED TO ENDOCRINEDISORDERS IN DETAIL, LISTED
BELOW.
1 ADRENAL INSUFFICIENCY,
is a condition in which the adrenal glands do not produce adequate amounts of
steroid hormones, primarily cortisol; but may also include impaired production of
aldosterone(a mineralocorticoid), which regulates sodium conservation.
Types,
 Primary
 Secondary
 Tertiary
SIGNS AND SYMPTOMS.
The most common symptoms of adrenal insufficiency are
 chronic, or long-lasting, fatigue
 muscle weakness
 loss of appetite
 weight loss
 abdominal pain
Other symptoms of adrenal insufficiency can include
 nausea
 vomiting
 diarrhea
 low blood pressurethatdrops further when you stand up, causing
dizziness or fainting
 irritability and depression
 joint pain
 craving salty foods

3.  hypoglycemia, or low blood glucose
 irregular or no menstrualperiods
 loss of interest in sex
CAUSES,
Adrenal Insufficiency is quite complicated and can be caused by about 50
different conditions. The most common cause of Addison’s disease today is an
autoimmune problem, when your immune system functions and attacks and
damages your own body, in this case, your adrenal glands.
Less common causes include:
 Fungal infections
 Tuberculosis
 A virus called cytomegalovirus, which is more common in people
with AIDS
 Cancer that has spread from another part of the body
DIAGNOSTIC TEST,
ACTH Stimulation Test: The most common test is the ACTH
(adrenocorticotropic hormone) stimulation test. In this test, an artificial form of
ACTH is injected, and before and after this injection, the levels of blood and
urine cortisol are measured. In people who are not affected by this condition
there will be a rise in the levels of blood and urine cortisol; whereas, those with
adrenal insufficiency will have a slight or no rise in the blood and urine cortisol
levels.
Adrenal Insufficiency Treatment,
Adrenal insufficiency treatment typically involves taking medications that
replace, or substitute, the hormones that the adrenal glands are not producing.
While cortisol is replaced orally with hydrocortisone tablets, the aldosterone
hormone is replaced with oral doses of a mineralocorticoid. Adrenal
insufficiency treatment is vital in the case of an addisonian crisis, which can be
fatal if left untreated.
Replacing Cortisol in Adrenal Insufficiency Treatment,

4. Adrenal insufficiency treatment involves replacing, or substituting, the
hormones that the adrenal glands are not making. Cortisol is replaced orally
with hydrocortisone tablets, a synthetic glucocorticoid, taken once or twice a
day.
Replacing Aldosterone in Adrenal Insufficiency Treatment,
If aldosterone is also deficient, it is replaced with oral doses of a
mineralocorticoid called fludrocortisone acetate (Florien®), which is taken once
a day. Patients receiving aldosterone replacement therapy are usually advised
by a doctor to increase their salt intake.
Because patients with secondary adrenal insufficiency normally maintain
aldosterone production, they do not require aldosterone replacement therapy.
2. CUSHING’S DISEASE,
Cushing's syndrome is a relatively rare endocrine (hormonal) disorder resulting
from excessive exposure to the hormone cortisol. The disorder, which leads to
a variety of symptoms and physical abnormalities, is most commonly caused
by taking medications containing the hormone over a long period of time. A
more rare form of the disorder occurs when the body itself produces an
excessive amount of cortisol.
Symptoms,
The most common symptoms of this condition are:
Weight gain fatty deposits, especially in the midsection, the face (causing a
round, moon-shaped face), and between the shoulders and the upper back
(causing a buffalo hump)
 Purple stretch marks on the breasts, arms, abdomen, and thighs
 Thinning skin that bruises easily
 Skin injuries that are slow to heal
 Acne
 Fatigue
 Muscle weakness
CAUSES,
Cushing's syndrome may result from any cause of increased glucocorticoid
levels, whether due to medication or internal processes. Some sources
however do not consider the glucocorticoid medication-induced condition as
"Cushing's syndrome" proper, instead using the term "Cushingoid" to describe
the medication's side effects which mimic the endogenous condition.

5. Cushing's disease is a specific type of Cushing's syndrome caused by a pituitary
tumor leading to excessive production of ACTH (adrenocorticotropic hormone).
Excessive ACTH stimulates the adrenal cortex to produce high levels of cortisol,
producing the disease state. While all Cushing's disease gives Cushing's
syndrome, not all Cushing's syndrome is due to Cushing's disease. Several
possible causes of Cushing's syndrome are known
COMPLICATION,
Without treatment, complications of Cushing syndrome may include:
 Bone loss (osteoporosis), which can result in unusual bone fractures,
such as rib fractures and fractures of the bones in the feet
 High blood pressure (hypertension)
Diagnostic Tests,
Blood and urine tests: These tests help your doctor identify the amount of
hormones, such as cortisol and adrenocorticotropic hormone (ACTH), in your
body. For example, if your body is producing too much cortisol, a hormone
released by your adrenal glands, it will show up in your blood and urine tests. A
common urine test is the 24-hour urine test for cortisol.
Saliva test: It's normal for cortisol levels to change throughout the day—levels
are highest in the morning and very low or undetectable around midnight.
However, people with Cushing's syndrome show less variability in their cortisol
levels and have higher levels than normal at night. Your doctor can check your
cortisol levels using a small late-night salivary sample.
Imaging tests: Specific imaging tests, such as computerized tomography (CT)
scans or magnetic resonance imaging (MRI) scans can help your doctor spot
any abnormalities in your pituitary gland and/or adrenal glands.
Treatment,
Treatment for Cushing's syndrome depends on its cause. Surgery may be
needed to remove the tumor or the pituitary or adrenal glands. Other
treatment may include radiation, chemotherapy, and use of certain hormone-
inhibiting drugs.
3. GIGANTISM,
Gigantism is a rare condition that causes abnormal growth in children. This
change is most notable in terms of height, but girth is affected as well. It

6. occurs when your child's pituitary gland makes too much growth hormone,
which is also known as somatotropin. Early diagnosis is important.
Symptoms,
 The child will grow in height, as well as in the muscles and organs. This
excessive growth makes the child extremely large for his or her age.
 Delayed puberty Double vision or difficulty with side (peripheral)
visionVery prominent forehead (frontal bossing) and a prominent jaw
Gaps between the teeth.
 Headache
 Increased sweating
 Irregular periods (menstruation)
 Joint pain
 Large hands and feet with thick fingers and toes
 Release of breast milk
 Sleep problems
 Thickening of the facial features
 Weakness
 Voice changes.
Causes,
 In addition it is thought that certain genetic or inherited syndromes can
lead to Gigantism. Two of those syndromes include McCune-Albright and
multiple endocrine neoplasia.
 It can also be cause by a genetic disorder that causes tumor growth
called neurofibromatosis.
 It can also be caused by the Carney complex.
Exams and Tests,
The health care provider will perform a physical exam and ask about the child's
symptoms.
Laboratory tests that may be ordered include:
 Cortisol
 Estradiol (girls)
 GH suppression test
 Prolactin
 Insulin-like growth factor-I

7.  Testosterone (boys)
 Thyroid hormone
 Imaging tests, such as CT or MRI scan of the head, also may be ordered
to check for a pituitary tumor.
Treatment,
For pituitary tumors, surgery can cure many cases.
When surgery cannot completely remove the tumor, medicines are used to
block or reduce GH release or prevent GH from reaching target tissues.
Sometimes radiation treatment is used to decrease the size of the tumor after
surgery.
4. ACROMEGALYAND OTHER GROWTH HORMONE PROBLEMS,
Acromegaly is a hormonal disorder that develops when your pituitary gland
produces too much growth hormone during adulthood. When this happens,
your bones increase in size, including those of your hands, feet and face.
Acromegaly usually affects middle-aged adults.
Acromegaly usually affects middle-aged adults, though it can develop at any
age. In children who are still growing, too much growth hormone can cause a
condition called gigantism. These children have exaggerated bone growth and
an abnormal increase in height.
Symptoms,
Acromegaly may produce the following signs and symptoms, which can vary
from one person to another:
 Enlarged hands and feet
 Coarsened, enlarged facial features
 Coarse, oily, thickened skin
 Excessive sweating and body odor
 Small outgrowths of skin tissue (skin tags)
 Fatigue and muscle weakness
 A deepened, husky voice due to enlarged vocal cords and sinuses
 Severe snoring due to obstruction of the upper airway
 Impaired vision

8.  Headaches
 Enlarged tongue
 Pain and limited joint mobility
CAUSES,
Acromegaly is caused by the pituitary gland overproducing growth hormone (GH) over
time. The pituitary gland, a small gland situated at the base of your brain behind the
bridge of your nose, produces a number of hormones. GH plays an important role in
managing your physical growth.
In adults, a tumor is the most common cause of too much GH production:
Pituitary tumors. Most cases of acromegaly are caused by a noncancerous
(benign) tumor (adenoma) of the pituitary gland. The tumor secretes excessive
amounts of growth hormone, causing many of the signs and symptoms of
acromegaly. Some of the symptoms of acromegaly, such as headaches and
impaired vision, are due to the tumor mass pressing on nearby brain tissues.
Nonpituitary tumors. In a few people with acromegaly, tumors in other parts of
the body, such as the lungs or pancreas, cause the disorder. Sometimes, these
tumors secrete GH. In other cases, the tumors produce a hormone called
growth hormone-releasing hormone (GH-RH), which stimulates the pituitary
gland to make more GH.
Treatment
Your doctor will work with you to come up with the best treatment plan, taking
into account your age, health, and how far along your condition is.
There are three ways to treat acromegaly:
 Surgery
 Medicine
 Radiation
Surgery is often the first treatment for people with large tumors affecting vital
areas, especially if they are pressing on nerves that harm your vision.
Somatostatin analogs (lanreotide or octreotide)
Growth hormone receptor antagonists (pegvisomant)
Dopamine agonists (cabergoline, bromocriptine)

9. Those drugs either lower the level of growth hormone in your blood or block
the effects it has on your body.
Radiation helps if you have parts of a tumor left after surgery, or if you need
more help lowering growth hormone levels after taking medicine. It can help
stop the tumor from growing and your body from making too much growth
hormone.
Diagnostic test,
How is Acromegaly Diagnosed?
With acromegaly, you have higher than normal levels of growth hormone
circulating in your blood due to continual overproduction by a tumor. To
diagnose the condition, physicians must test your level of growth hormone.
There are two ways this is commonly done.
IGF Test,
Growth hormone secretion by the pituitary gland into the bloodstream leads to
the production and release of insulin-like growth factor-one (IGF-I) from the
liver and other tissues. If GH levels are high, IGF-I levels will also be high.
Because IGF-I levels are much more stable over the course of a day than GH
levels, this is often a more reliable test. The IGF-I test can be done with a
single blood draw at any time of day, and need not be a fasting sample. For
these reasons, it has become the first test ordered to investigate excessive
growth hormone secretion in many cases.
Glucose Tolerance Test,
Growth hormone production fluctuates widely throughout the day but is
normally suppressed after sugar-containing food or drink is eaten or drunk. For
patients with acromegaly, sugar consumption will not reduce the high levels of
the hormone, as it does for patients without acromegaly. The glucose tolerance
test is very reliable and is usually done in initial investigations for the condition.
You will take a sugary drink and the doctor will then take and test blood for
sugar and growth hormone at intervals over 2 hours.
5. HYPERTHYROIDISM-AUTOIMMUNE DISORDER CALLED GRAVESDISEASE,
Graves' disease is an immune system disorder that results in the
overproduction of thyroid hormones (hyperthyroidism). Although a number of
disorders may result in hyperthyroidism, Graves' disease is a common cause.
Thyroid hormones affect many body systems, so signs and symptoms of
Graves' disease can be wide ranging. Although Graves' disease may affect
anyone, it's more common among women and in people younger than age 40.

10. SYMPTOMS,
Common signs and symptoms of Graves' disease include:
 Anxiety and irritability
 A fine tremor of the hands or fingers
 Weight loss, despite normal eating habits
 Enlargement of the thyroid gland (goiter)
 Change in menstrual cycles
 Erectile dysfunction or reduced libido
 Thick, red skin usually on the shins or tops of the feet (Graves' dermopathy)
 Rapid or irregular heartbeat (palpitations)
CAUSES,
Graves' disease is caused by a malfunction in the body's disease-fighting immune
system. It's unknown why this happens.
The immune system normally produces antibodies designed to target a specific
virus, bacterium or other foreign substance. In Graves' disease — for reasons that
aren't well understood — the immune system produces an antibody to one part of
the cells in the hormone-producing gland in the neck (thyroid gland).
DIAGNOSIS,
To diagnose Graves' disease, your doctor may conduct a physical exam and check
for signs and symptoms of Graves' disease. He or she may also discuss your
medical and family history. Your doctor may also order tests including:
 Blood tests. Blood tests can help your doctor determine your levels of thyroid-
stimulating hormone (TSH) — the pituitary hormone that normally stimulates the
thyroid gland — and your levels of thyroid hormones. People with Graves'
disease usually have lower than normal levels of TSH and higher levels of thyroid
hormones

11.  Radioactive iodine uptake. Your body needs iodine to make thyroid hormones.
By giving you a small amount of radioactive iodine and later measuring the
amount of it in your thyroid gland with a specialized scanning camera, your
doctor can determine the rate at which your thyroid gland takes up iodine.
 Ultrasound. Ultrasound uses high-frequency sound waves to produce images of
structures inside the body. It can show if the thyroid gland is enlarged. It's most
useful in people who can't undergo radioactive iodine uptake, such as pregnant
women.
 Imaging tests. If the diagnosis of Graves' disease isn't clear from a clinical
assessment, your doctor may order special imaging tests, such as a CT scan or
MRI.
TREATMENT,
The treatment goals for Graves' disease are to stop the production of thyroid
hormones and to block the effect of the hormones on the body. Some treatments
include:
Radioactive iodine therapy,
With this therapy, you take radioactive iodine (radioiodine) by mouth. Because
the thyroid needs iodine to produce hormones, the thyroid takes the radioiodine
into the thyroid cells and the radiation destroys the overactive thyroid cells over
time. This causes your thyroid gland to shrink,
Anti-thyroid medications,
Anti-thyroid medications interfere with the thyroid's use of iodine to produce
hormones. These prescription medications include propylthiouracil and
methimazole (Tapazole).
Beta blockers,
These medications don't inhibit the production of thyroid hormones, but they do
block the effect of hormones on the body. They may provide fairly rapid relief of
irregular heartbeats, tremors, anxiety or irritability, heat intolerance, sweating,
diarrhea, and muscle weakness.

12. Beta blockers include:
 Propranolol (Inderal, InnoPran XL)
 Atenolol (Tenormin)
 Metoprolol (Lopressor, Toprol-XL)
 Nadolol (Corgard)
Surgery,
Surgery to remove all or part of your thyroid (thyroidectomy or subtotal
thyroidectomy) also is an option for the treatment of Graves' disease. After the
surgery, you'll likely need treatment to supply your body with normal amounts of
thyroid hormones.
Treating Graves' ophthalmopath,
Mild symptoms of Graves' ophthalmopathy may be managed by using over-the-
counter artificial tears during the day and lubricating gels at night. If your
symptoms are more severe, your doctor may recommend:
 Corticosteroids. Treatment with corticosteroids, such as prednisone, may lessen
swelling behind your eyeballs. Side effects may include fluid retention, weight
gain, elevated blood sugar levels, increased blood pressure and mood swings.
 Teprotumumab (Tepezza). This medication may be used to treat Graves'
ophthalmopathy. It's given through an IV in the arm every three weeks and is
given eight times. It can cause side effects such as nausea, diarrhea, muscle
spasms and elevated blood sugar levels. As this medication is new management
of Graves' opthalmopathy isn't yet defined.
6. HYPOTHYROIDISM,
Hypothyroidism is a condition in which the thyroid gland is not able to produce
enough thyroid hormone. Since the main purpose of thyroid hormone is to "run the
body's metabolism," it is understandable that people with this condition will have
symptoms associated with a slow metabolism.
Symptoms of Hypothyroidism

13.  Fatigue
 Weakness
 Weight gain or increased difficulty losing weight
 Coarse, dry hair
 Dry, rough pale skin
 Hair loss
 Cold intolerance (you can't tolerate cold temperatures like those around you)
 Muscle cramps and frequent muscle aches
 Constipation
 Depression
 Irritability
 Memory loss
 Abnormal menstrual cycles
CAUSES,
 Hashimoto’s disease
 The most common cause of hypothyroidism in the U.S. is Hashimoto’s
disease, also known as chronic lymphocytic thyroiditis or autoimmune
thyroiditis.
 Hashimoto’s disease is an autoimmune disease, a disorder in which the
immune system attacks the body’s own cells and organs.
 The condition causes the immune system to attack the thyroid gland,
leading to inflammation and interfering with its ability to produce thyroid
hormones.
 Thyroiditis is an inflammation of the thyroid gland. It causes thyroid
hormones to leak into the blood, raising their overall levels and leading to
hyperthyroidism. After 1 to 2 months, this may develop into
hypothyroidism.
 Thyroiditis can be caused by viral or bacterial infection, an autoimmune
condition or following pregnancy.
 Congenital hypothyroidism

14.  In cases of congenital hypothyroidism, the thyroid gland does not function
properly from birth.
 This can lead to physical and mental growth problems, but early treatment
can prevent these complications. Most newborns in the U.S. are screened
for hypothyroidism.
DIAGNOSIS,
 Doctors usually carry out a physical examination, take a medical history,
and sent to a laboratory for analysis.
 The most common blood test is the TSH test. This detects the amounts of
TSH in the blood.
 If the TSH reading is above normal, the patient may have hypothyroidism.
If TSH levels are below normal, the patient may have hyperthyroidism or
hypothyroidism.
 The T3, T4, and thyroid autoantibody tests are additional blood tests used
to confirm the diagnosis or determine its cause.
 The doctor may run a complete thyroid panel, testing levels of T3 and T4,
TSH, and thyroid autoantibodies in order to fully establish the health and
activity of the thyroid gland.
 There may also be tests to check cholesterol levels, liver enzymes,
prolactin, and sodium.
TREATMENT,
Standard treatment for hypothyroidism involves daily use of the synthetic thyroid
hormone levothyroxine (Levo-T, Synthroid, others). This oral medication restores
adequate hormone levels, reversing the signs and symptoms of hypothyroidism.
You'll likely start to feel better soon after you start treatment. The medication
gradually lowers cholesterol levels elevated by the disease and may reverse any
weight gain. Treatment with levothyroxine will likely be lifelong, but because the
dosage you need may change, your doctor is likely to check your TSH level
every year.
7. HYPOPITUITARISM,
Hypopituitarism is when you have a short supply (deficiency) of one or more
of the pituitary hormones. These hormone deficiencies can affect any
number of your body's routine functions, such as growth, blood pressure or

15. reproduction. Symptoms typically vary, based on which hormone or
hormones you are missing.
SYMPTOMS,
Women may also have symptoms such as:
 Hot flashes
 Irregular or no periods
 Loss of pubic hair
 An inability to produce milk for breast-feeding
Men may also have symptoms such as:
 Erectile dysfunction
 Decreased facial or body hair
 Mood changes
CAUSES,
Hypopituitarism has a number of causes. In many cases, hypopituitarism is caused by a
tumor of the pituitary gland. As a pituitary tumor increases in size, it can compress and
damage pituitary tissue, interfering with hormone production. A tumor can also
compress the optic nerves, causing visual disturbances.
In addition to tumors, certain diseases or events that cause damage to the
pituitary gland may also trigger hypopituitarism. Examples include:
 Head injuries
 Brain surgery
 Radiation treatment to the head or neck
 Lack of blood flow to the brain or pituitary gland (stroke) or bleeding
(hemorrhage) into the brain or pituitary gland
 Certain medications, such as narcotics, high-dose corticosteroids or certain
cancer drugs called checkpoint inhibitors

16.  Inflammation of the pituitary gland caused by an abnormal immune system
response (hypophysitis)
 Infections of the brain, such as meningitis, or infections that can spread to the
brain, such as tuberculosis or syphilis
 Infiltrative diseases, which affect multiple parts of the body, including sarcoidosis,
an inflammatory disease occurring in various organs; Langerhans cell
histiocytosis, in which abnormal cells cause scarring in numerous parts of the
body; and hemochromatosis, which causes excess iron deposits in the liver and
other tissues
DIAGNOSIS,
If your doctor suspects a problem with your pituitary hormones, he or she will likely
order several tests to check hormone levels in your body and search for a cause.
Your doctor may order tests including:
Blood tests,
These tests measure your hormon levels.
For example,
blood tests ca n identify low levels of thyroid, adrenal or sex hormones.
The tests can determine if these low levels are associated with pituitary hormone
production.
Stimulation or dynamic testing. These tests also measure your hormone levels. Your
doctor may suggest that you go to a clinic that specializes in endocrine conditions for
these tests. These tests check your body's hormone levels after you've taken certain
medications to stimulate hormone production.
Brain imaging. Magnetic resonance imaging (MRI) or high-resolution computerized
tomography (CT) of your brain can detect a pituitary tumor or other pituitary gland
problems.
Vision tests. These tests can determine if growth of a pituitary tumor has impaired your
sight or visual fields.

17. TREATMENT,
The first step in treating hypopituitarism is often medication to help your hormone levels
return to normal. This is usually called hormone replacement, because the dosages are
set to match the amounts that your body would produce if it didn't have a pituitary
problem. You may need to take the medication for the rest of your life.
Medications
Hormone replacement medications may include:
 Corticosteroids. These drugs, such as hydrocortisone (Cortef) or prednisone
(Rayos), replace the adrenal hormones that aren't being produced because of
an adrenocorticotropic hormone (ACTH) deficiency. You take them by mouth.
 Levothyroxine (Levoxyl, Synthroid, others). This medication treats the low
thyroid hormone levels (hypothyroidism) that a thyroid-stimulating hormone
(TSH) deficiency can cause.
 Sex hormones. These include testosterone in men and estrogen or a
combination of estrogen and progesterone in women. Testosterone is
administered either by injection or through the skin with a patch or a gel.
Female hormone replacement can be administered with pills, gels or patches.
 Growth hormone. Also called somatropin (Geotropic, Humatrope, others),
growth hormone is administered through an injection beneath your skin. It
promotes growth, which helps produce a more normal height in children.
Adults with symptoms of growth hormone deficiency also may benefit from
growth hormone replacement, but they won't grow taller.
 Fertility hormones. If you've become infertile, gonadotropins can be
administered by injection to stimulate ovulation in women and sperm
production in men.
8. MULTIPLE ENDOCRINE NEOPLASIA I AND II (MEN I AND MEN II),
Multiple endocrine neoplasia (MEN) is a group of disorders that affect the endocrine
system, which is made up of glands that produce, store, and release hormones into the
bloodstream. The disease typically involves tumors (overgrowth of tissue) in multiple
endocrine glands that may be cancerous or noncancerous (benign) and may cause the
glands to become overactive and overproduce hormones. There are many forms of
MEN, with the most common being type 1 and type 2.

18.  Multiple endocrine neoplasia type 1 and type 2 are rare, with each subtype
affecting up to one in 30,000-35,000 people.
 Risk for MEN is similar in men and women and does not differ among people of
different geographic or racial/ethnic groups.
Multiple endocrine neoplasia runs in families meaning that the disease is passed down
to family members through defects or mutations in certain genes, most commonly in
MEN1 and RET (ret proto-oncogene). Only one parent needs to have the genetic defect
to pass it on to a child.
Multiple Endocrine Neoplasia Type 1
This disorder most 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.
Multiple Endocrine Neoplasia Type 2
Multiple endocrine neoplasia type 2 is divided into three subtypes: type 2A
(approximately 90% of all cases), type 2B, and familial medullary thyroid carcinoma
(FMTC). Most people with MEN2 develop medullary thyroid carcinoma regardless of
their subtype. Some people with this disorder also may develop a tumor in their adrenal
gland known as pheochromocytoma that may cause extremely high blood pressure.
People with MEN2A also may develop hyperparathyroidism, which causes high calcium
levels and people with MEN2B may develop tumors in nerve cells (ganglioneuromas) of
the gastrointestinal tract and tumors in their lips, tongue, and eyelids (mucosal
neuromas), often before the age of 10 years.
How is Multiple Endocrine Neoplasia Diagnosed?
Typically, this condition is diagnosed when a person has tumors in two or more
endocrine glands; when a person has a tumor in one or more endocrine gland plus
parent or sibling with a history of multiple endocrine neoplasia; or by genetic testing for

19. specific mutations in genes associated with MEN even if the person does show signs or
symptoms of the disease.
The disease is often detected by a blood test that shows higher than normal levels of
hormones secreted by these glands or by genetic testing. People whose blood tests
show abnormal hormone levels may need to undergo a CT scan or MRI to look for
tumors.
Genetic Testing for Multiple Endocrine Neoplasia
A genetic test is available to determine if you have a genetic mutation associated
with multiple endocrine neoplasia (MEN). The test can be used to help aid in the
diagnosis or to test family members of a person diagnosed with MEN to see if the family
members also have the genetic mutation and, thus, are at risk for MEN in the future.
Genetic testing is currently recommended for:
 People with MEN
 First-degree family members of people with MEN regardless of whether the
family members have symptoms of the disease.
Testing for tumors should be done as early as possible in family members as symptoms
of the disease can start as early as age 5. The timing of testing, especially in MEN2
may depend on the mutation in the RET gene, Genetic testing in family members with
no symptoms is recommended before use of laboratory or imaging tests.
Treatment for Multiple Endocrine Neoplasia
Treatment depends on the glands affected by the disease and typically involves surgical
removal of part or all the affected glands:
 Medullary thyroid carcinoma: Surgery to remove the thyroid and surrounding
lymph nodes is used. In young people known to carry the MEN2 genetic
mutation, the thyroid may be removed before it develops cancer.
 Parathyroid tumors: Surgery to remove all or almost all the 4 parathyroid glands
are recommended.
 Pheochromocytoma: Surgery to remove the entire diseased adrenal gland is
used in most cases.

20.  Pituitary tumors: Treatment may involve medication or surgery to remove the
entire pituitary gland or part of the gland, and possibly radiation to treat any areas
of the gland that cannot be removed.
 Pancreatic tumors: Treatment may involve surgical removal of tumors. In patients
whose tumors produce too much stomach acid; a medication may be given to
reduce the risk for ulcers.
o When glands are removed or do not produce enough hormones, you may
need to take hormone replacement therapy every day.
9. POLYCYSTIC OVARY SYNDROME (PCOS),
Polycystic ovary syndrome (or polycystic ovarian syndrome – PCOS) is a complex
hormonal condition. ‘Polycystic’ literally translates as ‘many cysts’. This refers to the
many partially formed follicles on the ovaries, which each contain an egg. These rarely
grow to maturity or produce eggs that can be fertilized.
SYMPTOMS,
Women who have PCOS may experience:
 irregular menstrual cycles – periods may be less or more frequent due to less
frequent ovulation (release of an egg)
 amenorrhea (no periods) – some women with PCOS do not menstruate, in some
cases for many years
 excessive facial or body hair growth (or both)
 acne
 scalp hair loss
 reduced fertility (difficulty in becoming pregnant) – related to less frequent or
absent ovulation
 mood changes – including anxiety and depression
 obesity
 Sleep apnea.
You don’t have to have all of these symptoms to have PCOS.

21. CAUSES,
The exact cause of PCOS isn't known. Factors that might play a role include:
 Excess insulin. Insulin is the hormone produced in the pancreas that allows cells
to use sugar, your body's primary energy supply. If your cells become resistant to
the action of insulin, then your blood sugar levels can rise and your body might
produce more insulin. Excess insulin might increase androgen production,
causing difficulty with ovulation.
 Low-grade inflammation. This term is used to describe white blood cells'
production of substances to fight infection. Research has shown that women with
PCOS have a type of low-grade inflammation that stimulates polycystic ovaries to
produce androgens, which can lead to heart and blood vessel problems.
 Heredity. Research suggests that certain genes might be linked to PCOS.
 Excess androgen. The ovaries produce abnormally high levels of androgen,
resulting in hirsutism and acne.
DIAGNOSIS,
There's no test to definitively diagnose PCOS. Your doctor is likely to start with a
discussion of your medical history, including your menstrual periods and weight
changes. A physical exam will include checking for signs of excess hair growth, insulin
resistance and acne.
Your doctor might then recommend:
 A pelvic exam. The doctor visually and manually inspects your reproductive
organs for masses, growths or other abnormalities.
 Blood tests. Your blood may be analyzed to measure hormone levels. This
testing can exclude possible causes of menstrual abnormalities or androgen
excess that mimics PCOS. You might have additional blood testing to measure
glucose tolerance and fasting cholesterol and triglyceride levels.
 An ultrasound. Your doctor checks the appearance of your ovaries and the
thickness of the lining of your uterus. A wand like device (transducer) is placed in
your vagina (transvaginal ultrasound). The transducer emits sound waves that
are translated into images on a computer screen.

22. TREATMENT,
PCOS treatment focuses on managing your individual concerns, such as infertility,
hirsutism, acne or obesity. Specific treatment might involve lifestyle changes or
medication.
Lifestyle changes
Your doctor may recommend weight loss through a low-calorie diet combined with
moderate exercise activities. Even a modest reduction in your weight — for example,
losing 5 percent of your body weight — might improve your condition. Losing weight
may also increase the effectiveness of medications your doctor recommends for PCOS,
and can help with infertility.
Medications
To regulate your menstrual cycle, your doctor might recommend:
Combination birth control pills. Pills that contain estrogen and progestin decrease
androgen production and regulate estrogen. Regulating your hormones can lower your
risk of endometrial cancer and correct abnormal bleeding, excess hair growth and acne.
Instead of pills, you might use a skin patch or vaginal ring that contains a combination of
estrogen and progestin.
Progestin therapy. Taking progestin for 10 to 14 days every one to two months can
regulate your periods and protect against endometrial cancer. Progestin therapy doesn't
improve androgen levels and won't prevent pregnancy. The progestin-only minipill or
progestin-containing intrauterine device is a better choice if you also wish to avoid
pregnancy.
To help you ovulate, your doctor might recommend:
 Clomiphene (Clomid). This oral anti-estrogen medication is taken during the first
part of your menstrual cycle.
 Letrozole (Femara). This breast cancer treatment can work to stimulate the
ovaries.
 Metformin (Glucophage, Fortamet, others). This oral medication for type 2
diabetes improves insulin resistance and lowers insulin levels. If you don't

23. become pregnant using clomiphene, your doctor might recommend adding
metformin. If you have prediabetes, metformin can also slow the progression to
type 2 diabetes and help with weight loss.
 Gonadotropins. These hormone medications are given by injection.
 To reduce excessive hair growth, your doctor might recommend:
 Birth control pills. These pills decrease androgen production that can cause
excessive hair growth.
 Spironolactone (Aldactone). This medication blocks the effects of androgen on
the skin. Spironolactone can cause birth defect, so effective contraception is
required while taking this medication. It isn't recommended if you're pregnant or
planning to become pregnant.
 Eflornithine (Vaniqa). This cream can slow facial hair growth in women.
 Electrolysis. A tiny needle is inserted into each hair follicle. The needle emits a
pulse of electric current to damage and eventually destroy the follicle. You might
need multiple treatments.
10. PRECOCIOUS PUBERTY,
Precocious puberty is when a child's body begins changing into that of an adult
(puberty) too soon. When puberty begins before age 8 in girls and before age 9 in boys,
it is considered precocious puberty.Puberty includes rapid growth of bones and
muscles, changes in body shape and size, and development of the body's ability to
reproduce.
SYMPTOMS,
Precocious puberty signs and symptoms include development of the following before
age 8 in girls and before age 9 in boys.
 Breast growth and first period in girls
 Enlarged testicles and penis, facial hair and deepening voice in boys
 Pubic or underarm hair
 Rapid growth
 Acne

24.  Adult body odor
CAUSES,
 A tumor in the brain or spinal cord (central nervous system)
 A defect in the brain present at birth, such as excess fluid buildup
(hydrocephalus) or a noncancerous tumor (hamartoma)
 Radiation to the brain or spinal cord
 Injury to the brain or spinal cord
 McCune-Albright syndrome — a rare genetic disease that affects bones and skin
color and causes hormonal problems
 Congenital adrenal hyperplasia — a group of genetic disorders involving
abnormal hormone production by the adrenal glands
 Hypothyroidism — a condition in which the thyroid gland doesn't produce enough
hormones
RISK FACTORS,
Factors that increase a child's risk of precocious puberty include:
 Being a girl. Girls are much more likely to develop precocious puberty.
 Being African-American. Precocious puberty appears to affect African-Americans
more often than children of other races.
 Being obese. Children who are significantly overweight have a higher risk of
developing precocious puberty.
 Being exposed to sex hormones. Coming in contact with an estrogen or
testosterone cream or ointment, or other substances that contain these
hormones (such as an adult's medication or dietary supplements), can increase
your child's risk of developing precocious puberty.
 Having other medical conditions. Precocious puberty may be a complication of
McCune-Albright syndrome or congenital adrenal hyperplasia — conditions that
involve abnormal production of the male hormones (androgens). In rare cases,
precocious puberty may also be associated with hypothyroidism.

25.  Having received radiation therapy of the central nervous system. Radiation
treatment for tumors, leukemia or other conditions can increase the risk of
precocious puberty.
DIAGNOSIS,
To diagnose precocious puberty, the doctor will:
 Review your child's and your family's medical history
 Do a physical exam
 Run blood tests to measure hormone levels
X-rays of your child's hand and wrist also are important for diagnosing precocious
puberty. These X-rays can help the doctor determine your child's bone age, which
shows if the bones are growing too quickly.
TREATMENT
The primary goal of treatment is to enable your child to grow to a normal adult height.
Treatment for precocious puberty depends on the cause. However, in some cases,
there is no identifiable cause for precocious puberty. In this instance, your child may not
need treatment depending on his or her age and how rapidly puberty is progressing.
Your child's doctor may want to monitor your child for several months to see how he or
she is developing.
Treating central precocious puberty
Most children with central precocious puberty, in which there's no underlying medical
condition, can be effectively treated with medication. This treatment, called GnRH
analogue therapy, usually includes a monthly injection of a medication, such as
leuprolide acetate (Lupron Depot), or triptorelin (Trelstar, Triptodur Kit), which delays
further development. Some newer formulations can be given at longer intervals.
The child continues to receive this medication until he or she reaches the normal age of
puberty. On average, 16 months after he or she stops receiving the medication, the
process of puberty begins again.
Treating an underlying medical condition

26. If another medical condition is causing your child's precocious puberty, treatment of that
condition is necessary to stop the progress of puberty. For example, if a child has a
tumor that's producing hormones and causing precocious puberty, puberty usually will
stop when the tumor is surgically removed.
Reference#
https://www.healthline.com/health/gigantism#treatment
https://www.healthline.com/health/acromegaly
https://www.healthline.com/health/cushings-syndrome
https://pituitary.org/knowledge-base/disorders/adrenal-insuffieciency-addison-s-
disease
https://www.healthline.com