SUMMARY Twenty-four patients, all of them over 15 years, with the Prader-Willi syndrome are described. Obesity, often extreme, associated with an insatiable appetite, was their principal handicap and this was made worse by educational subnormality and hypogonadism. Three of them developed diabetes. Each attended a special school or an adult training centre. Although most of them were of short stature and had scoliosis, 2 were tall but they were even more severely mentally retarded than is usually the case. Nine other patients died aged between 3 and 23 years. The most common cause of death was cor pulmonale.

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Hypothalamic, pituitary and gonadal function was studied in five male and three female patients with the Prader-Willi syndrome. All were clinically hypogonadal: all males had low circulating testosterone levels, although in two females basal plasma oestradiol was within the normal range for the early follicular phase of the menstrual cycle. Basal gonadotrophin levels were low and the response to the intravenous ater 10 days and 6 weeks treatment with oral clomiphene (200 mg daily) was followed by a normal rise in luteinizing hormone (LH) and follicle stimulating hormone (FSH) in four out of five patients tested. All five males were tested with human chorionic gonadotrophin (hCG) and the rise in plasma testosterone was subnormonal in four. Treatment with hCG was continued for 6 weeks in these four patients, but in only one did testosterone levels rise (transiently) to the normal adult male range. In one female patient studied no rise in plasma oestradiol was detected in response to human menopausal gonadotrophin (hMG). These results suggest that the hypogonadism in the Prader-Willi syndrome is due to combined hypothalamic and primary gonadal abnormalities.

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