Initial laboratory evaluation of hyperandrogenemia in an adolescent female^[1]

Beta-hCG: beta-human chorionic gonadotropin; FSH: follicle-stimulating hormone; LH: luteinizing hormone; TSH: thyroid-stimulating hormone; PCOS: polycystic ovary syndrome; 17OHP: 17-hydroxyprogesterone; DHEAS: dehydroepiandrosterone sulfate; IGF-1: insulin-like growth factor 1; PCOM: polycystic ovary morphology; CAH: congenital adrenal hyperplasia; SHBG: sex hormone-binding globulin; hCG: human chorionic gonadotropin; NCCAH: nonclassic congenital adrenal hyperplasia.
* Pregnancy is associated with elevated testosterone levels.
¶ Slightly elevated LH and slightly low FSH are common in PCOS. High FSH suggests primary hypogonadism. Low LH suggests hypogonadotropic hypogonadism.
Δ Thyroid dysfunction may alter the total testosterone level by altering SHBG. Hypothyroidism may cause multicystic ovaries and coarse hair that may be mistaken for hirsutism.
◊ Ultrasonography screens for ovarian and adrenal tumors. PCOM is supportive but is neither specific nor a diagnostic criterion for adolescent PCOS. Ultrasound may detect ovotesticular disorder of sex development (true hermaphroditism) or hCG-related disorders of pregnancy.
§ Moderate elevations of 8:00 AM 17OHP (>170 ng/dL [>5.1 nmol/L]) is approximately 95% sensitive and 90% specific for detecting the most common type of NCCAH (21-hydroxylase deficiency) in anovulatory or follicular-phase women. NCCAH is the most common condition mimicking PCOS. 17OHP elevation is often found in virilizing neoplasms.
¥ DHEAS >700 mcg/dL (>13.6 micromol/L) suggests an adrenal virilizing tumor or the rare 3-beta-hydroxysteroid dehydrogenase deficiency form of NCCAH.
‡ Hyperprolactinemia can cause anovulation either with hyperandrogenemia (usually accompanied by galactorrhea) or without hyperandrogenemia (due to hypogonadotropic hypogonadism).
† Cushing syndrome should be considered in hyperandrogenic cases with central obesity. Plasma cortisol <10 mcg/dL (<276 nmol/L) essentially rules out endogenous Cushing syndrome unless the clinical index of suspicion is high.
** Acromegaly should be ruled out by IGF-1 screening if the patient has acromegaloid overgrowth. The IGF-1 result should be interpreted in the context of the patient's age; the normal range is higher for adolescents than for adults.
¶¶ Exclusion of the preceding disorders in a hyperandrogenic patient with menstrual dysfunction meets standard diagnostic criteria for PCOS with approximately 99% reliability. However, this work-up does not identify rare adrenal disorders (eg, rare types of CAH and adrenal steroid metabolic disorders), very small tumors such as the rare testosterone-secreting neoplasm, or idiopathic hyperandrogenism. If symptoms persist, these patients should be reevaluated.