Table 3.

Laboratory and radiographic testing in the evaluation of amenorrhea

Findings	Associations
Laboratory testing (refer to local reference values)
17-hydroxyprogesterone level (collected at 8:00 AM)	High: nonclassic CAH
Anti-Müllerian hormone	High: Functional hypothalamic amenorrhea, PCOS
	Low: Primary ovarian insufficiency
Complete blood count and metabolic panel	Abnormal: chronic disease (e.g., elevated liver enzymes in functional hypothalamic amenorrhea)
Estradiol	Low: Poor endogenous estrogen production (suggestive of poor current ovarian function)
Follicle stimulating hormone and luteinizing hormone	High: primary ovarian insufficiency; Turner syndrome, FSH receptor mutation
	Low: functional hypothalamic amenorrhea
	Normal: PCOS; intrauterine adhesions; multiple others
Free and total T, DHEA-S	High: hyperandrogenism, PCOS, ovarian or adrenal tumor, CAH, Cushing syndrome
T/DHT ratio (normal <30:1)	High: 5-α-reductase deficiency
At puberty, serum LH, and T	High: androgen insensitivity syndrome
Karyotype	Abnormal: turner syndrome, rare chromosomal disorders
Prolactin	High: pituitary adenoma, medications, hypothyroidism, other neoplasm
Thyroid-stimulating hormone	High: hypothyroidism
	Low: hyperthyroidism
Radiographic testing
Dual-energy X-ray absorptiometry	Evaluation of fracture risk
MRI of the adrenal glands	Androgen-secreting adrenal tumor
MRI of the brain (including sella)	Tumor (e.g., microadenoma)
Pelvic organ ultrasonography or MRI	Morphology of pelvic organs, polycystic ovarian morphology, androgen-secreting ovarian tumor

CAH, congenital adrenal hyperplasia; PCOS, polycystic ovary syndrome; FSH, follicle stimulating hormone; DHEA-S, dehydroepiandrosterone sulfate; DHT, dihysrotestosterone; LH, luteinizing hormone; MRI, magnetic resonance imaging; T, testosterone.

Modified from Klein et al., Am Fam Physician 2019;100:39-48, with permission of American Academy of Family Physicians. [5]