Abstract
Five male members in four generations of the same family presented with hypogonadism, micropenis, mental retardation and short stature. The adults had gynecomastia, obesity and normal size hands and feet. Four had small head, with narrow forehead in two. History of neonatal hypotonia with difficulty in feedings was obtained in two. A variety of structural abnormalities of the hand and other skeletal defects were observed in some. Chromosomal studies including banding were normal. Serum LH and FSH were normal in three adults (12.3 and 4.5 mIU/ml; 9.0 and 7.0 mIU/ml and 22.5 and 18.1 mIU/m1). Serum testosterone levels were low (90 ng/d1; 54 ng/d1 and 75 ng/d1) and responded to hCG with at least doubling of the initial value. Testicular biopsies in two adults showed patchy involvement with tubular shrinkage, folding of the basement membrane, thickening of the tunica propria and loss of germinal epithelium in some areas. Other tubules were less affected and showed spermatogenesis. Leydig cells were present. The findings suggest partial hypogonadotropic hypogonadism. Their phenotype and the abnormalities in their sexual development are most likely the result of a developmental anomaly of the CNS. The mode of inheritance, gynecomastia and absence of small hands and feet suggest that this disorder represents a new syndrome resembling but distinct from that described by Prader and Willi.
Supported in part by John W. Champion Center.
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Vasquez, S., Hurst, D. & Sotos, J. 928 X-LINKED HYPOGONADISM, GYNECOMASTIA, MENTAL RETARDATION, SHORT STATURE AND OBESITY. A NEW SYNDROME. Pediatr Res 12 (Suppl 4), 518 (1978). https://doi.org/10.1203/00006450-197804001-00933
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DOI: https://doi.org/10.1203/00006450-197804001-00933