All issues > Volume 35(5); 1992

Case Report

J Korean Pediatr Soc. 1992;35(5):678-683. Published online May 15, 1992.

A Case of Prader Willi Syndrome

K.N. KN Kim¹, Y.T. YT Jang¹, S.Y. SY Choi¹, W.S. WS Kim¹

¹Department of Pediatrics, Presbyterian Medical Center, Chonju, Korea

Abstract

Prader willi syndrome is characterized by infantile hypotonia, mental retardation, hyperphagia with obesity, and hypogonadism. The etiology of Prader Willi syndrome is still unknown; however, a hypothalamic defect has been postulated and recently, the deletion of long arm of chromosome 15 has been postulated and recently, the deletion of long arm of chromosome 15 has been considered as a cause of Prader Willi syndrome by some articles. We experienced a 7-year-old boy who revealed mental retardation, obesity and hypogonadism with LH: 0.89mIU/ml, testosterone: 0.07ng/dl, whose features was compatible with Prader Willi syndrome.

Keywords :Prader-Willi syndrome