Endocrine Diseases/Disorders

• Diabetes Insipidus Causes:

  1. Deficiency in AVP secretion from posterior pituitary (neurological form)
  2. Insensitivity of kidneys to AVP (nephrogenic form).
  3. The disease can be congenital or acquired.
• Diabetes Insipidus Treatment:

  1. Neurological- treated with desmopressin which is a similar structure as AVP.
  2. Nephrogenic- treated with drugs that increase salt and water uptake in the kidney.
• Diabetes Insipidus Symptoms:

  1. excessive thirst
  2. excretion of large amounts of dilute urine (no glucose in urine).
• 5alpha-reductase Deficiency Cause:

  1. Deficiency of 5a-reductase enzyme
• 5alpha-reductase Deficiency Symptoms:

  1. In male fetuses, it disrupts the formation of the external sex organs.
  2. External genitalia appear to be female, not clearly male or female, or an unusually small penis.
• 5alpha-reductase Deficiency Treatment:

  1. Surgery depending on the gender they identify with.
  2. Hormone therapy.
• Acromegaly Cause:

  1. Tumor on the anterior pituitary (pituitary adenoma)
  2. The anterior pituitary produces excess GH after puberty.
• Acromegaly Symptoms:

  1. Hands, feet, nose, lips, and ears show swelling of the soft tissues and skin thickening.
  2. Swelling of internal organs.
  3. Deep voice due to swelling of the vocal cords.
  4. Jaw and brow protrusion and expansion of the skull.
  5. Tongue enlargement.
  6. Sever headaches, arthritis, hypertension, diabetes mellitus, heart and kidney failure.
• Acromegaly Treatments:

  1. Injectable medications- somatostatin analogs inhibit GH.
  2. Dopamine antagonists and GH antagonists.
  3. Surgical removal of pituitary adenoma.
  4. Radiation therapy for tumor.
• Addison's Disease Cause:

  1. Primary adrenal insufficiency is caused by the destruction of the adrenal cortex.
  2. ~90% of the adrenal cortex is damaged.
• Addison's Disease Symptoms:

  1. Darkening of hands and gums.
  2. Chronic fatigue
  3. Weight loss and appetite loss
• Addison's Disease Treatment:

  1. Multiple daily doses of hydrocortisone to treat cortisol deficiency.
  2. Fludrocortisone to treat aldosterone deficiency.
• Androgen Insensitivity Syndrome Cause:

  1. Partial or complete inability of cells to respond to androgen hormones due to a mutation in the Androgen Receptor (AR) gene on the X chromosome.
  2. Only occurs when other genetic factors are present
• Androgen Insensitivity Syndrome Symptoms:

  1. Males present as phenotypic females with decreased masculinization of male genitalia.
  2. Spermatogenic defects.
  3. Regression of Mullerian structures.
  4. Impaired conversion of testosterone to DHT.
  5. Infertility in males.
• Androgen Insensitivity Syndrom Treatment:

  1. Hormone replacement therapy.
  2. Psychological support.
• Androgenic Alopecia Cause:

  1. Type 2 5alpha-reductase activity at the hair follicle converts testosterone to DHT.
  2. HT binds to DHT receptors in the scalp which leads to decreased hair growth.
  3. Increased DHT receptor activity.
• Androgenic Alopecia Symptoms:

  1. In men- gradual recession of the frontal hairline. Hair thins at the crown and often progresses to partial or complete baldness.
  2. In women- hair becomes thinner all over the head with no hairline recession.
• Androgenic Alopecia Treatment:

  1. Finasteride- Type 2 5a-reductase inhibitor.
  2. Minoxidil- lengthens the duration of the growth phase of hair follicles and causes vasodilation at the scalp and increased blood flow to hair follicles.
• Aromatase Deficiency Cause:

  1. A loss-of-function mutation of the CYP19A1 gene encoding the aromatase enzyme.
  2. Causes patients to lose the ability to convert androgens to estrogens in the estrogen steroidogenesis pathway.
  3. Inherited in an autosomal recessive manner.
• Aromatase Deficiency Symptoms:

  1. Females are born with ambiguous external genitalia and rapidly develop ovarian cysts that prevent ovulation.
  2. Females do not develop secondary sex characteristics in puberty.
  3. All patients suffer from hyperglycemia and abnormal bone growth.
  4. Bones are long,l thin, and osteoporotic.
• Aromatase Deficiency Treatment:

  1. Surgery on female patients to correct external genitalia and remove cysts.
  2. Lifetime hormone replacement therapy.
• Congenital Adrenal Hyperplasia (CAH) Cause:

  1. Excess production of androgens during development.
  2. Due to a deficiency in 21-hydroxylase enzyme.
• CAH Symptoms:

  1. Excess production of androgens.
  2. Enlarged clitoris that resembles a penis.
  3. Labial fusion and formation of a penile urethra.
  4. Females behave more masculine.
• CAH Treatment:

  1. Hydrocortisone to replace low levels of cortisol.
  2. Surgery for abnormal genitalia.
• Congenital Hypothyroidism Cause:

  1. Shortage of TH at birth.
  2. Most often due to an absent thyroid gland or reduction in size or location.
• Congenital Hypothyroidism Symptoms:

  1. Large anterior fontanelle.
  2. Jaundice
  3. Reduced growth and activity
  4. Poor feeding
  5. Hoarse cry
  6. Umbilical hernia
  7. Low muscle tone
  8. Enlarged tongue
• Congenital Hypothyroidism Treatment:

  1. Thyroid hormone replacement therapy
  2. L-thyroxine pills to compensate for insufficient TH
• Conn's Syndrome Cause:

  1. Tumor found in the adrenal cortex
  2. Excess production of aldosterone
  3. Abnormal function of the adrenal cortex
• Conn's Syndrome Symptoms:

  1. High blood pressure
  2. Low potassium
  3. Muscle weakness and headaches
• Conn's Syndrom Treatment:

  1. Surgical removal of the adrenal gland
• Cretinism Cause:

  1. Iodine deficiency
  2. Defect in the development of the thyroid gland
• Cretinism Symptoms:

  1. Stunted growth
  2. Puffy or doll face
  3. Protruding tongue and belly button
  4. Delayed mental development
  5. Jaundice
  6. Poor feeding, decreased muscle tone, constipation
  7. Floppy infant
• Cretinism Treatment:

  1. Dietary iodine supplementation
  2. Thyroid hormone replacement with L-thyroxine
• Cushing's Disease Cause:

  1. Tumor on the pituitary gland or pituitary gland hyperplasia
  2. Excess release in ACTH
  3. Excess cortisol
• Cushing's Disease Symptoms:

  1. Obesity of the upper body with thin arms and legs
  2. Round, red faces
  3. Children experience slow growth
  4. Skin issues- acne, easy bruising
  5. Muscle and bone pain
  6. Men - decreased libido and impotence
  7. Women- excess hair growth and irregular menstrual cycles
• Cushing's Disease Treatment:

  1. Surgery to remove pituitary tumor
  2. Cortisol replacement medication
  3. Cortisol antagonists
• De Quervain's Thyroiditis Cause:

  1. Viruses such as mumps or influenza infect the thyroid gland.
  2. Thyroid inflammation and damage to follicular cells
• De Quervain's Thyroiditis Symptoms:

  1. Neck pain
  2. Fever
  3. Fatigue
  4. Hyperthyroidism
• De Quervain's Thyroiditis Treatment:

  1. NSAIDs or corticosteroids to reduce inflammation.
  2. Beta-blockers to treat hyperthyroidism
• Diabetes Mellitus Type 1 Cause:

  1. Disorder of glucose homeostasis
  2. Lack of insulin production and secretion from pancreas