MLAB 2401: Clinical Chemistry Keri Brophy-Martinez Disorders of the Adrenal Gland

Addison’s Disease What is it? Atrophy or destruction of adrenal cortex (PRIMARY) Idiopathic Autoimmune adrenalitis Tuberculosis Adrenal insufficiency (SECONDARY) Hypothalamic/pituitary disease

Clinical Features: Addison’s Disease Laboratory Manifestations Decreased cortisol levels Both serum & urine Decreased aldosterone Increased ACTH > 200 pg/mL Increased skin pigmentation Tiredness Intestinal issues Hypotension Hypoglycemia Hyperkalemia Hyponatremia/hypocholoremia Loss of body hair Depression

Increased pigment of skin Addison’s Disease Pituitary Increased MSH Increased pigment of skin Increased ACTH No inhibition of ACTH Shrunken Adrenal Cortex Low cortisol Low Aldosterone

Cushing’s Syndrome Caused by: Excess glucocorticoid production Cortisol-secreting adrenal carcinoma or adenoma Prolonged exogenous steroid use iatrogenic

Laboratory Features Increased serum cortisol Hyperglycemia Lack of diurnal variation of cortisol Hyperglycemia Sunheimer, R., & Graves, L. (2010). Clinical Laboratory Chemistry. Upper Saddle River: Pearson

Cushing’s Syndrome Manifestations Weight gain in face and abdomen Buffalo hump back Muscle wasting/weakness Easy bruising Hypertension Osteoporosis Hyperglycemia

Conn’s Syndrome Caused by: Aldosterone-secreting adrenal adenoma of adrenal cortex (Primary) Disorders within the renin-angiotensin system (Secondary)

Clinical Features: Conn’s Syndrome Laboratory Manifestations Low serum potassium High serum sodium High aldosterone levels Acid/base imbalances Muscle weakness Increased urination Hypertension

Adrenal Medulla Disorders Pheochromocytoma Benign or malignant tumors in the adrenal medulla Causes hypertension Neuroblastoma/Ganlioneuromas Common malignant tumors in pediatric patients

Disorders of Sexual Development

Testosterone Hyperandrogenemia Hypoandrogenemia Increased testosterone production In females: hirsutism ( see next slide) Due to tumors in hypothalamus, testicles, or congenital adrenal hyperplasia Hypoandrogenemia Decreased testosterone production Due to infections, tumors, congenital disorders, or decreased function of pituitary/ hypothalamus

Hirsutism Abnormal, abundant, hair growth( lip, chin, side burn, neck) Loss of female sex characteristics Ethnic origin important Italians, eastern europeans, eastern Indian, Irish

hCG & Human placental lactogen Increased Hydatidiform mole, choriocarcinoma, pre-eclamptic toxemia Decreased Threatened abortion, ectopic pregnancy Human placental lactogen Normal to rise throughout gestation Decreased levels suggest placental malfunction or fetal distress

Estrogen Hyperestrinism Overproduction of estrogen Females Males Early puberty Infertility & irregular menses Postmenopausal bleeding Males Testicular atrophy Breast enlargement

Estrogen Hypoestrinism Decreased production of estrogen Ovarian insufficiency Delayed puberty Amenorrhea Turner Syndrome

Progesterone Hyperprogesteronemia Hypoprogesteronemia Prevents menstrual cycle Hypoprogesteronemia Results in infertility Abortion of fetus

Menstrual Cycle Abnormalities Average cycle is 28 days Menopause between 45-55 years Amenorrhea Absence of menses Primary: never menstruated Secondary: Had at least one menstrual cycle Oligomenorrhea Irregular menses Cycle length in excess of 35- 40 days Menorrhagia Uterine bleeding > 7 days

References Bishop, M., Fody, E., & Schoeff, l. (2010). Clinical Chemistry: Techniques, principles, Correlations. Baltimore: Wolters Kluwer Lippincott Williams & Wilkins. Sunheimer, R., & Graves, L. (2010). Clinical Laboratory Chemistry. Upper Saddle River: Pearson .