ENDOCRINE FUNCTION IN THE PRADER‐WILLI SYNDROME

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Abstract
Hypothalamic, pituitary and gonadal function was studied in 5 male and 3 female patients with the Prader-Willi syndrome. All were clinically hypogonadal: all males had low circulating testosterone [T] levels, although in 2 females basal plasma estradiol was within the normal range for the early follicular phase of the menstrual cycle. Basal gonadotropin levels were low and the response to the i.v. LHRH [luliberin] administration was subnormal in 7. Repeat LHRH administration after 10 days and 6 wk treatment with oral clomiphene (200 mg daily) was followed by a normal rise in luteinizing hormone [lutropin] and follicle stimulating hormone [follitropin] in 4 of 5 patients tested. All 5 males were tested with human chorionic gonadotropin (hCG) and the rise in plasma T was subnormal in 4. Treatment with hCG was continued for 6 wk in these 4 patients, but in only 1 did T levels rise (transiently) to the normal adult male range. In 1 female patient studied no rise in plasma estradiol was detected in response to human menopausal gonadotropin. The hypogonadism in the Prader-Willi syndrome apparently is due to combined hypothalamic and primary gonadal abnormalities.