Adult patients with Prader-Willi syndrome: Clinical characteristics, life circumstances and growth hormone secretion

C. A. Partsch, C. Lämmer, G. Gillessen-Kaesbach, R. Pankau

39 Zitate (Scopus)

Abstract

Prader-Willi syndrome is characterized by a typical clinical phenotype and by a complex genetic basis that includes large deletions, uniparental disomy and imprinting mutations of chromosome region 15q11-q13. This report delineates the clinical characteristics, morbidity and growth hormone secretory status of 19 adults with Prader-Willi syndrome. The patients were 18-34 years of age. Morbidity included marked obesity with body mass index in excess of 30 kg/m2 (grade 1-3 according to WHO), metabolic diseases, sleep apnoea and lipolymphoedema. Severe growth hormone deficiency (GHD) was seen in 38% of the patients, and levels of insulin-like growth factor I were decreased in 87%. Thus, GHD is seen, not only in children with Prader-Willi syndrome, but also in adults with the syndrome. (C) 2000 Harcourt Publishers Ltd.

OriginalspracheEnglisch
ZeitschriftGrowth Hormone and IGF Research
Jahrgang10
AusgabenummerSUPPL. B
Seiten (von - bis)S81-S85
Seitenumfang5
ISSN1096-6374
DOIs
PublikationsstatusVeröffentlicht - 2000

Strategische Forschungsbereiche und Zentren

  • Querschnittsbereich: Medizinische Genetik

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