Amenorrhea

For Turner syndrome, think streak gonads, shield chest, amenorrhea, webbed neck, aortic coarctation, and bicuspid aortic valve. The absence of menses by 15 Absence of 2° sexual characteristics (no 1° Ovarian insufficiency Most common cause (50%). Depletion of ovarian follicles and years of age with 2° sexual estrogen production). Central hypogonadism oocytes most commonly from Turner syndrome (45, XO). development present,or the absence of 2° sexual radiation therapy and chemotherapy characteristics by 13 years of age. Undernourishment, stress, hyperprolactinemia, or exercise. 1° AMENORRHEA/ CNS tumor (consider prolactin-secreting pituitary adenoma if DELAYED PUBERTY galactorrhea) or cranial irradiation. Kallmann syndrome (isolated gonadotropin deficiency) associated with anosmia. Constitutional growth delay. Müllerian agenesis Absence of upper two-thirds of the vagina; uterine abnormalities. Presence of 2° sexual characteristics (estrogen Imperforate hymen Presents with hematocolpos (blood in the vagina) production but other anatomic that cannot escape, along with a bulging hymen. or genetic problems) Complete androgen insensitivity Patients present with breast development (aromatization of testosterone to estrogen) but are amenorrheic and lack pubic hair. Diagnosis Congenital adrenal hyperplasia Can present as virilization with amenorrhea or oligomenorrhea; often presents in ■ Perform pregnancy test. infancy with ambiguous genitalia ■ Assess for anatomic abnormalities (imperforate hymen): Physical exam, ultrasonography. Treatment ■ Uterus absent: Karyotype and serum testosterone to assess if abnormal ■ Constitutional growth delay: No treatment is necessary. müllerian development (46,XX, normal female testosterone levels), ■ Hypogonadism: Begin HRT with estrogen alone at the lowest dose. and androgen insensitivity (46,XY, normal male testosterone levels). Begin cyclic estrogen/progesterone therapy 12–18 months later (if the ■ Uterus present: FSH, LH levels. ■ ↑ FSH: Primary ovarian insufficiency. Obtain karyotype for Turner uterus is present). syndrome (45,X). ■ Anatomic: Requires surgical intervention. ■ Normal/↓ FSH: Central hypogonadism, constitutional growth delay. Measure serum prolactin, thyrotropin especially if galactorrhea. ■ If signs of hyperandrogenism: Consider androgen-secreting neoplasm. Check serum testosterone, dehydroepiandrosterone-sulphate (DHEAS). ■ If hypertensive: Evaluate for congenital adrenal hyperplasia (CAH; 17-hydroxylase and 21-hydroxylase deficiencies). Amenorrhea The absence of menses Pregnancy. for 6 consecutive months in women who Obesity. have passed menarche Ovary: (PCOS), premature ovarian insufficiency, chemotherapy. 2° AMENORRHEA Hypothalamus: Neoplasm, functional hypothalamic amenorrhea (nutrition, exercise, and stress), systemic illness (diabetes mellitus type 1 [DM1], celiac disease). Pituitary gland: Adenoma (eg, prolactin secreting), sellar masses, Sheehan syndrome. Thyroid gland: Hypothyroidism. Uterus: Asherman syndrome, cervical stenosis. Diagnosis Treatment ■ History and physical exam. ■ Hypothalamic: Reverse the underlying cause and induce ovulation with ■ Give patient a pregnancy test. gonadotropins if trying to conceive. If not, oral contraceptives. ■ If , measure FSH, TSH and prolactin. ■ Tumors: Excision; medical therapy for prolactinomas (eg, cabergoline, ■ ↑ FSH indicates primary ovarian insufficiency. bromocriptine). ■ ↑ TSH indicates hypothyroidism. ■ Premature ovarian failure (< 40 years of age): If the uterus is present, ■ ↑ Prolactin (inhibits the release of GnRH and thus LH and FSH); treat with combined oral contraceptives or estrogen plus progestin points to a pituitary pathology. Order an MRI of the pituitary gland to replacement therapy look for a prolactin-secreting pituitary adenoma. ■ Initiate a progestin challenge (10 days of progestin). See Figure 2.12-4 for an algorithm of the diagnostic work-up. ■ ⊕ Progestin challenge (withdrawal bleed): Indicates anovulation that is probably caused by noncyclic gonadotropin secretion, pointing to PCOS or idiopathic anovulation. ■ Progestin challenge (no bleed): Indicates uterine abnormality or estrogen deficiency. ■ Signs of hyperglycemia (polydipsia, polyuria) or hypotension: Conduct a 1-mg overnight dexamethasone suppression test to distinguish CAH (21-hydroxylase deficiency), Cushing syndrome, and Addison disease. ■ Clinical virilization: If present, measure testosterone, DHEA-S, and 17-hydroxyprogesterone. ■ Mild pattern: PCOS, CAH, or Cushing syndrome. ■ Moderate to severe pattern: Look for an ovarian or adrenal tumor.