Table 3.
Disorder | Major Clinical Findings | Physical Examination | Screening Tests | Additional/Confirmatory Tests |
---|---|---|---|---|
Hypothyroidism | Dry skin; cold intolerance; constipation; hoarseness; weight gain | Delayed ankle reflex; periorbital puffiness; coarse skin; cold skin; slow movement; goiter | High TSH; low or normal fT4 | |
Hyperthyroidism | Warm, moist skin; heat intolerance; nervousness; tremulousness; insomnia; weight loss; diarrhea; proximal muscle weakness | Lid lag; fine tremor of the outstretched hands; warm, moist skin | Low TSH; high or normal fT4 and T3 | Radioactive iodine uptake and scan |
Hypercalcemia and primary hyperparathyroidism | Hypercalcemia | Usually none | Serum calcium | Serum parathyroid hormone |
Congenital adrenal hyperplasia (excess DOC) | Hypertension and hypokalemia; virilization (11-β-OH deficiency); incomplete masculinization in males and primary amenorrhea in females (17-α-OH deficiency) | Signs of virilization (11β) or incomplete masculinization (17α) | Hypertension and hypokalemia with low or normal aldosterone and renin | 11-β-OH: elevated DOC, 11-deoxycortisol and androgens; 17-α-OH: decreased androgens and estrogen; elevated DOC and corticosterone |
Other mineralocorticoid excess syndromes caused by DOC | Early-onset hypertension, hypokalemia | Arrhythmias (with hypokalemia) | Low aldosterone and renin | DOC; urinary cortisol metabolites; genetic testing |
Acromegaly | Acral features; enlarging shoe, glove, or hat size; headache; visual disturbances; diabetes mellitus | Acral features; large hands and feet; frontal bossing | Serum growth hormone ≥1 ng/mL during oral glucose load | Elevated age- and sex-matched IGF-1 level; MRI scan of the pituitary |
DOC indicates deoxycorticosterone; fT4, free thyroxine; IGF-1, insulin-like growth factor-1; MRI, magnetic resonance imaging; OH, hydroxylase; T3, triiodothyronine; and TSH, thyroid-stimulating hormone.