MLAB 2401: Clinical Chemistry Keri Brophy-Martinez

1. MLAB 2401: Clinical ChemistryKeri Brophy-Martinez Disorders of the Adrenal Gland

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

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

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

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

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

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

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

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

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

11. Disorders of Sexual Development

12. Testosterone • Hyperandrogenemia • 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

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

14. hCG & Human placental lactogen • hCG • 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

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

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

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

18. 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

19. 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 .