A Recently Married 27-Year-Old With Hot Flashes, Amenorrhea

Discussion

The patient's elevated FSH level indicated the presence of premature ovarian failure (POF; also known as primary ovarian insufficiency), in which the ovaries stop functioning before age 40 years.^[1,2,3] Increased FSH results from loss of feedback inhibition from ovarian estrogen and inhibin production (see Figure 1).

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Figure 1.

The two major causes of POF are sex chromosome abnormalities (eg, Turner syndrome) and autoimmune oophoritis.^[4,5] Although sex chromosome abnormalities usually present with primary amenorrhea (PA) and complete gonadal failure, an incomplete phenotype, sometimes from genetic mosaicism, manifests after a variable period of relatively normal menstrual function. In this case, additional karyotype testing showed 46,XX, thus ruling out classic Turner syndrome.^[5]

Loss of menses is normal during pregnancy and during menopause (occurring at about age 50 y). Amenorrhea is the absence of menarche by age 16 years (PA) or the abnormal cessation of established menses (secondary amenorrhea). Although PA is rare, secondary amenorrhea (SA) occurs in 3%-4% of the US female population.

The distinction between PA and SA with regard to uterine bleeding can sometimes be blurred by the possibility of a short history of perimenarchal uterine bleeding with PA or by menarchal onset of SA. PA was unlikely in this patient, because her menses were relatively normal for almost five years postmenarche and because the presence of normal female breasts and a normal uterus excluded several diagnostic possibilities for PA. See the following table:

Table 1. Primary Amenorrhea: Clinical Diagnostic Differentiation

After exclusion of pregnancy and natural menopause, all women with three months of SA should have a diagnostic evaluation. Although the differential diagnosis of SA is extensive, five major etiologies account for the vast majority of cases: hypothalamic amenorrhea, polycystic ovary syndrome (PCOS), hyperprolactinemia; POF, and uterine adhesions. SA can also result from pituitary causes (Sheehan syndrome, empty sella syndrome), hypothyroidism, and fragile-X premutations (FMR1 gene expansions). See Table 2.

Table 2. Secondary Amenorrhea (Major Causes): Clinical Diagnostic Differentiation

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