1980 Volume 71 Issue 9 Pages 999-1009
Four prepubertal boys with Prader-Willi syndrome are herein reported. They were 7-6/12 (Case 1), 5 (Case 2), 3-4/12 (Case 3) and 5-8/12 years old (Case 4) respectively. All of them had typical symptoms, such as hypotonia, hypomentia and hypogonadism (cryptorchidism, small penis and hypoplastic scrotum) and three of them had obesity. Patients of case 2 and 4 had retarded bone age on X-ray examination and that of case 1 had abnormal glucose tolerance.
Endocrinological studies showed normal adrenal and thyroid function in all cases. Plasma growth hormone and thyroid stimulating hormone were also normal before and after administration of insulin and thyrotropin releasing hormone (TRH) respectively. As for plasma prolactin three of them were normal before and after TRH administration, while case 1 showed high basal levels at various ages. As for plasma luteinizing hormone and follicle stimulating hormone, three of them showed normal response to luteinizing hormone releasing hormone, while the patient of case 1 showed a low basal level and response at the age of 7 years old, but showed almost normal response at 10 years old Human chorionic gonadotropin administration caused a variable increase in plasma testosterone (T) and estradiol. However, there was no relationship between plasma T and hypogonadism. Therefore, it was suggested that hypothalamic-pituitary-gonadal function of male patients with Prader-Willi syndrome was variable at prepubertal stage.
This paper contains statistical studies on 61 cases of male patients with Prader-Willi syndrome reported in Japanese literature including our 4 cases.
