(1) If the uterus is absent, evaluation should include a karyotype and serum testosterone. These tests should distinguish abnormal mullerian development (46, XX karyotype with normal female serum testosterone concentrations) from androgen insensitivity syndrome (46, XY karyotype and normal male serum testosterone concentrations).
(2) Patients with 5-alpha reductase deficiency also have a 46, XY karyotype and normal male serum testosterone concentrations but, in contrast to the androgen insensitivity syndrome which is associated with a female phenotype, these patients undergo striking virilization at the time of puberty (secondary sexual hair, muscle mass, and deepening of the voice).
2. Uterus present. For patients with a normal vagina and uterus and no evidence of an imperforate hymen, vaginal septum, or congenital absence of the vagina. Measurement of serum beta human chorionic gonadotropin to exclude pregnancy and of serum FSH, prolactin, and TSH.
a. A high serum FSH concentration is indicative of primary ovarian failure. A karyotype is then required and may demonstrate complete or partial deletion of the X chromosome (Turner syndrome) or the presence of Y chromatin. The presence of a Y chromosome is associated with a higher risk of gonadal tumors and makes gonadectomy mandatory.
b. A low or normal serum FSH concentration suggests functional hypothalamic amenorrhea, congenital GnRH deficiency, or other disorders of the hypothalamic-pituitary axis. Cranial MR imaging is indicated in most cases of hypogonadotropic hypogonadism to evaluate hypothalamic or pituitary disease. Cranial MRI is recommended for all women with primary hypogonadotropic hypogonadism, visual field defects, or headaches.
c. Serum prolactin and thyrotropin (TSH) should be measured, especially if galactorrhea is present.
d. If there are signs or symptoms of hirsutism, serum testosterone and dehydroepiandrosterone sulfate (DHEA-S) should be measured to assess for an androgen-secreting tumor.
e. If hypertension is present, blood tests should be drawn for evaluate for CYP17 deficiency. The characteristic findings are elevations in serum progesterone (>3 ng/mL) and deoxycorticosterone and low values for serum 17-alpha-hydroxyprogesterone (<0.2 ng/mL).
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