| A Case of Prader Willi Syndrome |
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K.N. Kim, Y.T. Jang, S.Y. Choi, W.S. Kim |
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Department of Pediatrics, Presbyterian Medical Center, Chonju, Korea |
| Prader-Willi 증후군 1례 |
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김경녕, 장영택, 최사영, 김완섭 |
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전주예수병원 소아과 |
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| Abstract |
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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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