Hypergonadotrophic hypogonadism in an XX female subject due to 17,20 steroid desmolase deficiency

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Abstract
A 22 yr old XX female patient with primary amenorrhea and sexual infantilism was studied. Persistently elevated serum LH [luteinizing hormone] and FSH concentrations and exaggerated LHRH pituitary responsiveness indicated deficient ovarian hormonal production. Serum levels of C21 and C19 steroids measured by specific radioimmunoassays before and after appropriate stimulations demonstrated an impairment of adrenal and ovarian steroid biosynthesis. Baseline levels of androstenedione (.DELTA.4-A), testosterone (T) and estradiol-17.beta. (E2) were persistently below the normal range for healthy women at early follicular phase, while progesterone (P) and 17.alpha.-OH-progesterone (17-OH-P) serum levels were significantly higher than those observed for normal women. Adrenal and gonadal stimulation with ACTH and hCG [human chorionic gonadotropin], respectively, resulted in a considerable rise in serum P and 17-OH-P without any significant change in circulating levels of .DELTA.4-A, T and E2. These findings were consistent with the diagnosis of 17,20 steroid desmolase deficiency at both adrenal and ovarian levels. This is the first report of a 17,20 desmolase deficiency in an XX individual, and is in line with previous suggestions that familial occurrence of the disorder would fit an autosomal recessive pattern of inheritance.

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