Endocrine Diseases
Endocrine Diseases
Diseases
Endocrine System Anatomy &
Physiology
The endocrine system is a network of glands that produce
and release hormones that help control many important
body functions
Anterior Posterior
- TSH - ADH
- ACTH - Oxytocin
- Growth Hormone
- Luteinizing
Hormone
- FSH
- Prolactin
Thyroid • The thyroid gland is a butterfly-shaped
organ located in the base of your neck. It
Gland releases hormones that control metabolism
- Insulin
- Glucagon
• Are a pair of ovoid glandular organs that are
Testes central to the function of the male
reproductive system.
• The testes are responsible for the
production of sperm cells and the male sex
hormone testosterone.
- Testosterone
• Is a ductless reproductive gland in which the
Ovary female reproductive cells are produced.
- Estrogen
- Progesterone
- Prostaglandin
Endocrine Diseases
Pituitary Disorders
Posterior Pituitary
Diabetes Insipidus
is a condition characterized by large amounts of dilute urine and increased thirst
The amount of urine produced can be nearly 20 liters per day
Complications may include dehydration or seizures
Cause:
Central diabetes insipidus occurs when the pituitary gland fails to secrete the hormone
vasopressin, which regulates bodily fluids.
S/Sx
• Polydipsia
• Polyuria
• Colourless urine instead of pale yellow.
• Waking frequently through the night to urinate.
• Dry skin
• Constipation
• Weak muscles
• Bedwetting
Anterior Pituitary
Hypopituitarism (Panhypopituitarism)
Occurs when your pituitary gland in your brain is not releasing one or more of the eight
hormones it should be releasing.
Your body can't work properly when important glands, such as your thyroid gland and
adrenal gland, don't get the hormones they need from your pituitary gland.
Cause:
• Children may have a genetic cause of transcription factor deficiency, resulting in trophic
hormone hyposecretion
• Pituitary tumors, or adenomas, are the most common cause of hypopituitarism in adults,
although traumatic brain injury as a cause is being more frequently recognized.
S/Sx
• Stomach pain, decreased appetite, nausea and vomiting, and constipation.
• Excessive thirst and urination.
• Fatigue and/or weakness.
• Anemia, meaning weakness from not having enough red blood cells.
• Headache and dizziness.
• Sensitivity to cold.
• Weight loss or weight gain.
Pituitary Adenoma PITUITARY TUMORS
benign, slow-growing tumors that arise from cells in the pituitary gland.
Cause:
The cause of uncontrolled cell growth in the pituitary gland, which creates a tumor, remains
unknown.
A small percentage of pituitary tumor cases runs in families, but most have no apparent
hereditary factor. Still, scientists suspect that genetic alterations play an important role in
how pituitary tumors develop.
S/Sx
S/Sx
IN FEMALE IN MALE
Cause:
In most cases, the cause of a multinodular goiter is unknown.
S/Sx
• difficulty breathing or swallowing
• feeling like you have food stuck in your throat
• having a “full” feeling in your neck
Hypothyroidism
also called underactive thyroid or low thyroid, is a disorder of the endocrine system in which the
thyroid gland does not produce enough thyroid hormone.
Cause:
The most common cause of hypothyroidism is Hashimoto's thyroiditis (or autoimmune
hypothyroidism), a form of thyroid inflammation caused by your own immune system.
Hypothyroidism results when the thyroid gland fails to produce enough hormones.
S/Sx
• Puffy face
• Hoarseness
• Muscle weakness
• Elevated blood cholesterol level
• Muscle aches, tenderness and stiffness
• Pain, stiffness or swelling in your joints
• Heavier than normal or irregular menstrual periods
• Thinning hair
• Slowed heart rate
Thyroid Cancer
is a disease in which malignant (cancer) cells form in the tissues of the thyroid gland.
Cause:
Thyroid cancer develops when cells genetically mutate or change. The abnormal cells begin
multiplying in your thyroid and, once there are enough of them, they form a tumor.
S/Sx
• Neck, throat pain
• Swollen lymph nodes or enlarged thyroid gland
• Lump in your neck
• Difficulty swallowing
• Vocal changes, hoarseness
• Cough
Adrenal Gland Disorders
Addison’s Disease
also known as primary adrenal insufficiency
a disease in which the adrenal glands do not produce sufficient glucocorticoids
Cause:
A common cause is an autoimmune disease that causes the immune system to attack healthy
tissues. In the case of Addison’s disease, the immune system turns against the adrenal gland(s).
S/Sx
• Extreme fatigue.
• Weight loss and decreased appetite.
• Hyperpigmentation
• Low blood pressure, even fainting.
• Salt craving.
• Low blood sugar (hypoglycemia)
• Nausea, diarrhea or vomiting.
• Abdominal pain.
Adrenal crisis
a disease in which the adrenal glands do not produce sufficient glucocorticoids
Cause:
Body’s inability to produce a sufficient amount of cortisol.
S/Sx
• extreme weakness
• mental confusion
• dizziness
• nausea or abdominal pain
• vomiting
• fever
• a sudden pain in the lower back or legs
• a loss of appetite
• extremely low blood pressure
Congenital Adrenal Hyperplasia
is a group of inherited genetic disorders that affect the adrenal glands
Cause:
mutations in genes that code for enzymes involved in making steroid hormones in the adrenal
glands. The most common enzyme defect, 21-hydroxylase deficiency, leads to excess amounts of
male hormones being produced by the adrenal glands.
S/Sx
• Due to inadequate mineralocorticoids:
vomiting due to salt-wasting leading to dehydration and death
• Due to excess androgens:
functional and average sized penis in cases involving extreme virilization (but no sperm)
ambiguous genitalia
early pubic hair and rapid growth in childhood
precocious puberty or failure of puberty to occur (sexual infantilism: absent or delayed puberty)
excessive facial hair, virilization, and/or menstrual irregularity in adolescence
• Due to insufficient androgens and estrogens:
Undervirilization in XY males, which can result in apparently female external genitalia
In females, hypogonadism can cause sexual infantilism or abnormal pubertal development, infertility,
and other reproductive system abnormalities
Hyperaldosteronism
a condition in which aldosterone is over-produced
Cause:
Common conditions causing the overproduction of aldosterone include: A benign growth in an
adrenal gland (aldosterone-producing adenoma) — a condition also known as Conn's syndrome.
Overactivity of both adrenal glands (idiopathic hyperaldosteronism)
S/Sx
It can be asymptomatic, but these symptoms may be present:
• Fatigue
• Headache
• High blood pressure
• Hypokalemia
• Hypernatraemia
• Hypomagnesemia
• Intermittent or temporary paralysis
• Muscle spasms
• Muscle weakness
• Polyuria
• Polydipsia
Hypoaldosteronism
a condition in which aldosterone is under-produced
Cause:
There are several causes for this condition, including adrenal insufficiency, congenital adrenal
hyperplasia, and some medications such as certain diuretics, NSAIDs, and ACE inhibitors.
S/Sx
• Anorexia
• Asthenia
• weight loss
• Hyperpigmentation
• postural hypotension
Diseases of Adrenal Medulla
Pheochromocytoma
Is a rare tumor of adrenal gland tissue. It results in the release of too much epinephrine and
norepinephrine, hormones that control heart rate, metabolism, and blood pressure.
Cause:
Researchers don't know what causes a pheochromocytoma. The tumor develops in specialized
cells, called chromaffin cells, situated in the center of an adrenal gland. These cells release certain
hormones, primarily adrenaline (epinephrine) and noradrenaline (norepinephrine)
S/Sx
• The signs and symptoms of a pheochromocytoma are those of
sympathetic nervous system hyperactivity, including:
• Skin sensations
• Flank pain
• Elevated heart rate
• Elevated blood pressure, Palpitations
• Anxiety often resembling that of a panic attack
• Diaphoresis
• Headaches – most common symptom
• Pallor
• Weight loss
Paraganglioma
is a rare neuroendocrine neoplasm that may develop at various body sites (including the head,
neck, thorax and abdomen)
A paraganglioma is a type of tumour that arises from the peripheral nervous system
Cause:
It is unclear why paragangliomas occur. However, in some cases, defects in certain genes increase
the chance that someone may develop a paraganglioma.
S/Sx
• Most paragangliomas are either asymptomatic or
present as a painless mass.
Parathyroid Disorders
Hyperparathyroidsim
is an excess of parathyroid hormone in the bloodstream due to overactivity of one or more of the
body's four parathyroid glands. These glands are about the size of a grain of rice and are located
in your neck.
Cause:
Hyperparathyroidism is caused by factors that increase the production of parathyroid hormone.
S/Sx
• Fragile bones that easily fracture (osteoporosis)
• Kidney stones
• Excessive urination
• Abdominal pain
• Tiring easily or weakness
• Depression or forgetfulness
• Bone and joint pain
• Frequent complaints of illness with no apparent cause
• Nausea, vomiting or loss of appetite
Hypercalcaemia
A condition in which the calcium level in your blood is above normal
Cause:
Commonly results from overactive parathyroid glands
S/Sx
• Excessive thirst
• Frequent urination
• Stomach upset
• Nausea
• Vomiting
• Weakening of bones
• Muscle weakness
• Lethargy
• fatigue
Hypocalcaemia
is an electrolyte imbalance and is indicated by a low level of calcium in the blood
S/Sx
• confusion or memory loss.
• muscle spasms.
• numbness and tingling in the hands, feet, and face.
• depression.
• hallucinations.
• muscle cramps.
• weak and brittle nails.
• easy fracturing of the bones
Hypoparathyroidsim
is the state of decreased secretion or activity of parathyroid hormone (PTH). This leads to
decreased blood levels of calcium (hypocalcemia) and increased levels of blood phosphorus
(hyperphosphatemia).
Cause:
Hypoparathyroidism occurs when your parathyroid glands don't secrete enough parathyroid
hormone
S/Sx
• Tingling or burning (paresthesia) in your fingertips, toes and lips.
• Muscle aches or cramps in your legs, feet, abdomen or face.
• Twitching or spasms of your muscles, particularly around your mouth, but also in your
hands, arms and throat.
• Fatigue or weakness
• Patchy hair loss
• Dry, coarse skin
• Brittle nails
• Depression or anxiety
Parathyroid Carcinoma
Parathyroid carcinoma is an extremely rare but aggressive and life-threatening form of primary
hyperparathyroidism (pHPT).
Is a rare malignant neoplasm resulting in parathyroid adenoma to carcinoma progression.
Cause:
Is a rare cause of primary hyperparathyroidism, which is usually caused by a parathyroid adenoma
and occasionally by primary parathyroid hyperplasia.
S/Sx
• Most patients experience moderate to severe hypercalcemia
and high parathyroid hormone levels. A large mass in the neck
is often seen, and renal and bone abnormalities are common
Tetany
These cramplike spasms of your hands and fingers can be prolonged and painful. Tetanymight
also include muscle discomfort and twitches or spasms of the muscles of your face, throat or
arms.
When these spasms occur in your throat, they can interfere with breathing, creating a possible
emergency.
Cause:
Hypocalcemia is the primary cause of tetany
The usual cause of tetany is lack of calcium. An excess of phosphate (high phosphate-to-
calcium ratio) can also trigger the spasms underfunction of the parathyroid gland can lead to
tetany.
S/Sx
• Numbness and tingling sensations in the perioral area or in the
fingers and toes.
• Muscle cramps, particularly in the back and lower extremities;
may progress to carpopedal spasm (ie, tetany)
• Wheezing; may develop from bronchospasm.
• Dysphagia.
Metabolic Bone Diseases
Osteoporosis
is a disease where increased bone weakness increases the risk of a broken bone.[3] It is the
most common reason for a broken bone among the elderly.
Osteoporosis may be due to lower than normal maximum bone mass and greater than normal
bone loss. Bone loss increases after menopause due to lower levels of estrogen.
Cause:
Most osteoporosis has no specific cause (primary osteoporosis) but there are a number of reasons
why some people are more likely to have osteoporosis than others.
• high levels of parathyroid hormone (primary hyperparathyroidism)
• overactive thyroid (hyperthyroidism)
• excess cortisol production (Cushing's syndrome)
• low levels of testosterone.
S/Sx
• Osteoporosis has no symptoms (asymptomatic) until fractures
occur. Any fracture that occurs following minor injury should
raise suspicion of underlying osteoporosis.
Osteitis deformans (Paget’s disease)
Paget’s disease is a common, chronic bone disorder
In Paget’s disease, the internal structure of bones is disrupted, resulting in possible deformity and
weakening. It is most commonly found in the spine, thigh, skull, pelvis and sternum bones.
Cause:
There is no known cause for the development of Paget's Disease. As of late, studies have shown
that some genes re linked with this disease to include the Sequestrosome-1 gene on chromosome 5.
A viral infection is also a causative factor for development of Paget's disease in people who have
these genes.
S/Sx
• The majority of patients have no symptoms and
many individuals are unaware that they have the
disease until it is discovered when the patient is
being examined for other reasons.
S/Sx
• Delayed growth
• Pain in the spine, pelvis and legs
• Muscle weakness
• Bowed legs
• Thickened wrist and ankles
• Breastbone projection
Osteomalacia
Refers to softening of your bones, often caused by a Vitamin D deficiency
Soft bones are more likely to bow and fracture than harder and healthy bones
Cause:
Osteomalacia can occur if don’t get enough calcium and phosphate in your diet or if your body
doesn’t absorb them properly
S/Sx
• In the early stages, you may have no osteomalacia
symptoms
• As osteomalacia worsens, you may experience
bone pain and muscle weakness
• The dull, aching pain associated with osteomalacia
most commonly affects the lower back, pelvis, hips,
legs and ribs
Osteitis fibrosa cystica (von Recklinghausen's disease)
is a skeletal disorder resulting in a loss of bone mass, a weakening of the bones as their calcified
supporting structures are replaced with fibrous tissue (peritrabecular fibrosis), and the formation
of cyst-like brown tumors in and around the bone.
Cause:
Osteitis fibrosa cystica is the result of unchecked hyperparathyroidism, or the overactivity of the
parathyroid glands, which results in an overproduction of parathyroid hormone (PTH). PTH causes
the release of calcium from the bones into the blood, and the reabsorption of calcium in the kidney.
Thus, excess PTH in hyperparathyroidism causes elevated blood calcium levels, or
hypercalcemia.There are four major causes of primary hyperparathyroidism that result in OFC:
S/Sx
• The major symptoms of OFC are bone pain or
tenderness, bone fractures, and skeletal
deformities such as bowing of the bones. The
underlying hyperparathyroidism may cause kidney
stones, nausea, constipation, fatigue and
weakness. X-rays may indicate thin bones,
fractures, bowing, and cysts. Fractures are most
commonly localized in the arms, legs, or spine
Renal osteodystrophy
Is a bone disease that occurs when your kidneys fail to maintain proper levels of calcium and
phosphorus in the blood. It's common in people with kidney disease and affects most dialysis
patients.
Cause:
Renal osteodystrophy has been classically described to be the result of hyperparathyroidism
secondary to hyperphosphatemia combined with hypocalcemia, both of which are due to decreased
excretion of phosphate by the damaged kidney.
S/Sx
• Bone pain
• Joint pain
• Bone deformation
• Bone fracture
Diabetes Mellitus
Diabetes Type 1
also known as type 1 diabetes, is a form of diabetes mellitus in which not enough insulin is
produced by the pancreas
This results in high blood sugar levels in the body
Cause:
The exact cause of type 1 diabetes is unkown
Scientists do know that in people with type 1 diabetes, the body’s own immune system mistakenly
destroys the insulin-producing cells in the pancreas.
S/Sx
• Increased thirst
• Frequent urination
• Extreme hunger
• Weight loss
• Fatigue
• Irritability or unusual behavior
• Blurred vision
Diabetes Type 2
Is a chronic condition in which the body fails to properly use and store glucose
Cause:
Diabetes results when the body doesn't produce enough insulin and/or is unable to use insulin
properly (this is also referred to as 'insulin resistance')
S/Sx
• Increased thirst
• Frequent urination
• Extreme hunger
• Weight loss
• Fatigue
• Slow-healing sores or frequent infections
• Blurred vision
• Areas of darkened skin
Gestational Diabetes
Develops during pregnancy
Affects how the cells use sugar. It causes high blood sugar that can affect your pregnancy and
your baby’s health
Cause:
Researchers don’t know why some women develop gestational diabetes
S/Sx
• For most women, gestational
diabetes doesn’t cause noticeable
signs or symptoms
Hypoglycemia Insulinoma Glucagonoma
- Condition - is a tumor of the pancreas that is - Glucagonoma is a rare tumor
characterized by an derived from beta cells and involving the pancreas.
abnormally low level of secretes insulin. It is a rare form
blood sugar of a neuroendocrine tumor. Most
insulinomas are benign in that S/Sx:
they grow exclusively at their
S/Sx: origin within the pancreas
- high blood sugar
-Heart palipitations -excessive thirst and hunger due
-Fatigue S/Sx: to high blood sugar
-Pale skin -frequently waking up at night to
- convulsions or seizures
-Shakiness urinate
- a rapid heart rate (greater than)
-Anxiety - diarrhea
(95 beats per minute )
-Hunger -a skin rash, or dermatitis, on the
- difficulty concentrating
-Irritability face, belly, buttocks, and feet
- loss of consciousness or coma
-Tingling sensation
- abdominal pain that’s often crusty or filled with pus
around the mouth - unintentional weight loss
- back pain
- diarrhea -blood clots in the legs, which is
-jaundice, or yellowing of the also called deep vein thrombosis
skin and eyes
Disease of Testes
Orchitis
Inflammation of one or both testicles
Cause:
It is usually caused by a bacterial infection or by the mumps virus
S/Sx
• tenderness in the scrotum
• painful urination
• painful ejaculation
• a swollen scrotum
• blood in the semen
• abnormal discharge
• an enlarged prostate
• swollen lymph nodes in the groin
• a fever
Testicular Torsion
occurs when a testicle rotates, twisting the spermatic cord that brings blood to the scrotum.The
reduced blood flow causes sudden and often severe pain and swelling.
Cause:
It's not clear why testicular torsion occurs. Most males who get testicular torsion have an inherited
trait that allows the testicle to rotate freely inside the scrotum. This inherited condition often affects
both testicles. But not every male with the trait will have testicular torsion.
S/Sx
• Sudden, severe pain in the scrotum the
loose bag of skin under your penis that
contains the testicles
• Swelling of the scrotum
• Abdominal pain
• Nausea and vomiting
• A testicle that's positioned higher than
normal or at an unusual angle
• Frequent urination
• Fever
Testicular Microtlihiasis
is an uncommon condition — diagnosed during a testicular ultrasound — in which small clusters
of calcium form in the testicles.
Cause:
The cause is unknown, but this condition has been associated with testicular cancer in a small group
of individuals, cryptorchidism, mumps, infertility and intraepithelial germ cell neoplasia.
S/Sx
• It is an asymptomatic, non-progressive
disease.
Hydrocele Testis
Is a type of swelling in the scrotum that occurs when fluid collects in the thin sheath surrounding a
testicle. Hydrocele is common in newborns and usually disappears without treatment by age 1.
Older boys and adult men can develop a hydrocele due to inflammation or injury within the
scrotum
Cause:
Occurs when fluid collects in the thin sheath surrounding a testicle.
S/Sx
• Usually, the only indication of a hydrocele is
a painless swelling of one or both testicles.
Cause:
May be caused by injury, infection, surgery, cancer or testicular torsion and is a possible
complication after vasectomy.
S/Sx
• The complaint is of a squeezing deep ache in the testis like the
day after you got kicked there, often bilateral or alternating from
one side to the other, intermittent, and, most commonly,
associated with lower back pain.
• Sometimes it feels like the testicle is pinched in the crotch of the
underwear but trouser readjustment does not help. There may
also be pain in the inguinal area but no nausea or other
symptoms.
• Back pain may be concurrent or absent and some patients have
a long history of low back pain.
Epididymitis
is infection or less frequently, inflammation of the epididymis
Cause:
The majority of men that develop epididymitis develop it because of a bacterial infection.
S/Sx
S/Sx
• Erectile dysfunction (the inability to achieve or
maintain an erection)
• Infertility
• Decreased sex drive
• Decrease in beard and growth of body hair
• Decrease in size or firmness of the testicles
• Decrease in muscle mass and increase in body fat
• Lose of bone mass (osteoporosis)
• Enlarged male breast tissue
Disease of Ovaries
Polycystic Ovarian Syndrome
is a hormonal disorder common among women of reproductive age. Women with PCOS may
have infrequent or prolonged menstrual periods or excess male hormone (androgen) levels. The
ovaries may develop numerous small collections of fluid (follicles) and fail to regularly release
eggs.
Cause:
The exact cause of PCOS is unknown.
S/Sx
• Irregular periods. Infrequent, irregular or prolonged
menstrual cycles are the most common sign of PCOS. For
example, you might have fewer than nine periods a year, more
than 35 days between periods and abnormally heavy periods.
• Excess androgen. Elevated levels of male hormone may
result in physical signs, such as excess facial and body hair
(hirsutism), and occasionally severe acne and male-pattern
baldness.
• Polycystic ovaries. Your ovaries might be enlarged and
contain follicles that surround the eggs. As a result, the ovaries
might fail to function regularly.
Ovarian Cyst
Ovarian cysts are fluid-filled sacs that affect women of all ages, though mostly women of child-
bearing age. Cysts are very common—and they can range in size from a pea to a grapefruit. The
majority of cysts are harmless
Cause:
Most ovarian cysts develop as a result of your menstrual cycle (functional cysts).
S/Sx
• abdominal bloating or swelling
• painful bowel movements
• pelvic pain before or during the menstrual cycle
• painful intercourse
• pain in the lower back or thighs
• breast tenderness
• nausea and vomiting
Amenorrhea
A menstrual condition characterized by absent menstrual periods for more than three monthly
menstrual cycles. Amenorrhea may be classified as primary or secondary.
Cause:
Hormonal imbalance or side effect of medication or a sign of medical problem.
S/Sx
• Milky nipple discharge.
• Hair loss.
• Headache.
• Vision changes.
• Excess facial hair.
• Pelvic pain.
• Acne.
Hirsuitism
This condition is defined by excessive hairiness in children and women in areas where terminal
hair does not normally grow.
Cause:
Excessive production of androgen
S/Sx
• Deepening voice.
• Balding.
• Acne.
• Decreased breast size.
• Increased muscle mass.
• Enlargement of the clitoris.
Premature Ovarian Failure
is also known as ovarian hypofunction. It relates to the reduced function of the ovaries including
decreased production of hormones in the female reproduction system.
Cause:
Ovarian hypofunction can be caused by genetic endocrine disorders and factors such as
chromosome abnormalities, or it may occur with certain autoimmune disorders that disrupt normal
ovarian function. Additionally, women undergoing chemotherapy or radiation therapy for cancer
treatment may experience premature ovarian failure.
S/Sx
• Irregular or skipped periods (amenorrhea)
• Difficulty conceiving.
• Hot flashes.
• Night sweats.
• Vaginal dryness.
• Irritability or difficulty concentrating.
• Decreased sexual desire.
Hypoestrogeninsm
refers to a lower than normal level of estrogen, the primary sex hormone in women. In general,
lower levels of estrogen may cause differences in the breasts, genitals, urinary tract, and skin.
Cause:
Such conditions as hypothalamic-pituitary insufficiency, ovarian failure and iatrogenic treatment
(surgery, chemotherapy, radiotherapy) can cause hypoestrogenism.
S/Sx
S/Sx
• Failure to start or fully complete puberty.Irregular
periods
• Primary amenorrhoeaHot flashes
• Anosmia
• Poor balance or coordination due to cerebral ataxia.
• Eye defects such as coloboma or ptosis.
• Manual synkinesis (mirror movements of hands)
• Missing teeth (hypodontia)
Ovarian Cancer
is a disease that affects women. In this form of cancer, certain cells in the ovary become
abnormal and multiply uncontrollably to form a tumor
Cause:
Cancers occur when a buildup of mutations in critical genes—those that control cell growth and
division or repair damaged DNA—allow cells to grow and divide uncontrollably to form a tumor. Most
cases of ovarian cancer are sporadic
S/Sx