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

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)324-327
Number of pages4
JournalJournal of the Formosan Medical Association = Taiwan yi zhi
Volume93
Issue number4
Publication statusPublished - Apr 1994
Externally publishedYes

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Prader-Willi Syndrome
Chromosomes, Human, Pair 15
Obesity
Theft
Failure to Thrive
Hyperphagia
Muscle Hypotonia
Hypogonadism
Amenorrhea
Appetite
Puberty
Intellectual Disability
Type 2 Diabetes Mellitus
Growth Hormone
Foot
Hand
Chromosomes
History
Insulin
Food

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Hormonal change in an adult with Prader-Willi syndrome : report of a case. / Shiah, C. J.; Lee, L. S.; Hwang, J. Y.; Liao, S. T.; Hsu, C. H.; Lin, W. Y.

In: Journal of the Formosan Medical Association = Taiwan yi zhi, Vol. 93, No. 4, 04.1994, p. 324-327.

Research output: Contribution to journalArticle

Shiah, C. J. ; Lee, L. S. ; Hwang, J. Y. ; Liao, S. T. ; Hsu, C. H. ; Lin, W. Y. / Hormonal change in an adult with Prader-Willi syndrome : report of a case. In: Journal of the Formosan Medical Association = Taiwan yi zhi. 1994 ; Vol. 93, No. 4. pp. 324-327.
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