Hormonal change in an adult with Prader-Willi syndrome: report of a case.

C. J. Shiah, L. S. Lee, J. Y. Hwang, S. T. Liao, C. H. Hsu, W. Y. Lin

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3 引文 斯高帕斯(Scopus)

摘要

We report a classical case of Prader-Willi syndrome (PWS) in an adult with typical interstitial deletion of chromosome 15, and emphasize the study of hormonal change. This 21-year-old female had PWS face characteristics, small hands and feet, marked obesity, mental retardation, growth retardation, absence of puberty and amenorrhea. She also had the characteristic history of infantile hypotonia, poor feeding, failure to thrive and then improved appetite, followed by obesity from the age of four years. She had compulsive hyperphagia, to the extent of stealing and lying to take food. Chromosome study with high resolution banding technique revealed a small interstitial deletion at band q12 of chromosome 15, which is characteristically found in a majority of patients with PWS. Hormonal study revealed hypogonadism and growth hormone deficiency of supposed hypothalamic origin. She also had non-insulin-dependent diabetes mellitus with decreased pancreatic insulin reserve.

原文英語
頁(從 - 到)324-327
頁數4
期刊Journal of the Formosan Medical Association = Taiwan yi zhi
93
發行號4
出版狀態已發佈 - 四月 1994
對外發佈Yes

ASJC Scopus subject areas

  • Medicine(all)

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