Medical Considerations

Urs Eiholzer, Phillip D.K. Lee

Research output: Chapter in Book/Report/Conference proceedingChapter


Over the past three decades, a rapidly increasing wealth of information has accumulated regarding the medical pathophysiology and treatment of Prader-Willi syndrome (PWS). Clinical diagnostic criteria and acceptance of genetic diagnostic testing in the 1990s helped to focus clinical and research attention on a condition which had been largely disregarded as a defined clinical entity. The identification of a defect in the growth hormone (GH) system and, moreover, demonstration of GH treatment efficacy provided the first and, to date, only treatment for PWS to attain regulatory approval in 2000. Advances in molecular biology have provided valuable tools for linking genetic findings to phenotype. Although there has been considerable progress since the last edition of this book [1], there is a continuing lack of systematic information regarding many of the morbidities associated with PWS.

Original languageEnglish (US)
Title of host publicationManagement of Prader-Willi Syndrome
Subtitle of host publicationFourth Edition
PublisherSpringer International Publishing
Number of pages36
ISBN (Electronic)9783030981716
ISBN (Print)9783030981709
StatePublished - Jan 1 2022
Externally publishedYes

ASJC Scopus subject areas

  • General Medicine


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