Isolated Deficiency of Follicle-Stimulating Hormone

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Abstract
Isolated deficiency of follicle-stimulating hormone (FSH) was found in a 22-year-old woman with primary amenorrhea. Pituitary growth hormone, ACTH and thyrotropin release, assessed either directly or indirectly, was normal. Serum luteinizing hormone levels were high, generally 50 to 90 mlU per milliliter, whereas serum follicle-stimulating hormone levels were undetectable (less than 3 mlU per milliliter). Serum estradiol-17β concentration was less than 10 pg per milliliter. Ovarian biopsy revealed primordial follicles but without maturation to the stage of antral formation. Administration of menotropins (human menopausal gonadotrophins), which contains urinary follicle-stimulating and luteinizing hormone, led to the appearance of readily detectable levels of follicle-stimulating hormone in the serum (between 10 and 20 mlU per milliliter)that fell to less than 3 mlU per milliliter 48 hours after the last injection of menotropins. Luteinizing hormone release was inhibited by intravenous injection of conjugated estrogen, with rebound to basal high values within three days. Serum luteinizing hormone levels were uninfluenced by clomiphene administration; follicle-stimulating hormone was not measurable because of development of antibodies to it. The defect in our patient may be at the pituitary rather than the hypothalamic level.