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A Case of Prader Willi Syndrome

Journal of the Korean Pediatric Society 1992;35(5):678-683.
Published online May 15, 1992.
A Case of Prader Willi Syndrome
K.N. Kim, Y.T. Jang, S.Y. Choi, W.S. Kim
Department of Pediatrics, Presbyterian Medical Center, Chonju, Korea
Prader-Willi 증후군 1례
김경녕, 장영택, 최사영, 김완섭
전주예수병원 소아과
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.
Key Words: Prader-Willi syndrome


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