Endocrine System Disorders

Question 1

Nephrogenic diabetes insipidus; cause and symptoms

Answer 1

X linked recessive

Failure of the kidneys to respond to ADH.

Caused by use of drugs, hypercalcemia, kidney disease.

Symptoms are excessive thirst polydipsia and urination polyuria

Question 2

Diabetes type IA

Answer 2

Autoimmune destruction of beta cells of the pancreas, genetics

Low C peptide levels

Question 3

Central diapetes insipidus; cause and symptoms

Answer 3

X linked recessive

Lack of ADH production/secretion by hypothalamus or neurohypophysis

Symptoms: excessive thirst (polydipsia) and excessive urination (polyuria)

Cause: head injury, trauma, surgery, blood loss

Question 4

Diabetes Type 1B

Answer 4

Non responsive beta cells of the pancreas, non autoimmune, cause unknown

Low to absent C peptide

Common in Caucasians

Question 5

Maturity Onset Diabetes of the Young (MODY)

Answer 5

Glucokinase gene mutation; less glucose affinity

Require exogenous insulin

Autosomal dominant, early onset

Question 6

Neonatal Diabetes

Answer 6

Within three months of birth, transient or permanent

Mutation in KCNJ11 gene that encodes for subunit of K-ATP channel, makes it less responsive to high ATP/ADP ratio in beta cells therefore no Ca cell influx and no insulin release

Question 7

Congenital Hyperthyroidism (CH)

Answer 7

Common metabolic endocrine disorder, in newborns.

Defect in T3 and T4 biosynthesis.

Characteristic is enlargement of the thyroid gland (goiter)

Question 8

Pheochromocytoma

Answer 8

Tumors in adrenal medullary cells.

Hypertension, sweating, can be deadly, high concentration of vanylmandelic acid (VMA) = product produced by catecholamine breakdown

Question 9

Congenital adrenal hyperplasia (CAH)

Answer 9

Autosomal recessive

Deficiency of 21 hydroxylase producing excessive production of adrenal androgens

two forums, classical and nonclassical. Classical is most severe presented during neonatal. Nonclassical is late onset

Question 10

Clinical presentation of CAH

Answer 10

Females with classical form have Clitoral enlargement, labial fusion also known as ambiguous genitalia.

Females with nonclassical have excess melt like facial hair growth and menstrual irregularity acne

Males with classical song losing form, failure to thrive. Neonate death. Hyponatremia, hyperkalemia

Males with nonclassical form, Non salt losing. Early year virilization; pubic hair growth spurt adult body odor

Question 11

Polycystic Ovarian Syndrome (PCOS)

Answer 11

Enlarged cystic ovaries, effective follicular maturation and ovulation, irregular periods, excessive hair growth, acne, obesity.

Elevated LH secretion, via stimulation of fecal cells producing excess AndroSTENEDIONE which increases total testosterone levels in blood., And decreases estradiol production.

Question 12

Adrenal cortex secretes

Answer 12

Mineralcorticoid aldosterone
Glucocorticoids (cortisol, adrenal androgens)
Adrenal androgens and glucocorticoids

Question 13

Adrenal medulla secretes

Answer 13

Catecholamines (Epi/NEpi)

Peptide hormones

Question 14

Posterior pituitary releases

Answer 14

Oxytocin and ADH/Vasopressin

Peptide hormones

Question 15

Zona Glomerulosa secretes

Answer 15

Mineralcorticoid and aldosterone

Lacks alpha-hydroxylase and 11-beta-hydroxylase resulting in NO cortisol or corticosterone

Therefore, prognenolone –> progesterone = aldosterone synthase –> aldosteron

Question 16

Zona fasiculata secretes and contains enzymes

Answer 16

Glucocorticoids

Contains 17-alpha hydroxylase to make cortisol
Contains 11-beta hydroxylase = corticosterone

Question 17

Zona Reticularis

Answer 17

Secretes adrenal androgen, low levels of glucocorticoids

Contains 17-alpha hydroxylase and 17,20 lyase which = DHEA and androstenedione from cholesterol