Delayed diagnosis of Prader-Willi syndrome in a 24 year-old patient

Ioannis A. Kyriazis, Dimitrios Mendrinos, Maria Saridi, Maria Rekliti, Aikaterini Toska, Greta Wozniak, Zoe Roupa

Research output: Contribution to journalArticlepeer-review


Background: Prader-Willi syndrome (PWS) is the most common known genetic cause of life-threatening obesity in children. The purpose of the study was to present the case of a delayed diagnosis of PWS in a 24-year-old male and the importance of an early PWS diagnosis as well as behavioral and institutional treatment issues. Case Report: A young man presented with a history of hyperphagia, severe obesity, and mental retardation. From his history, laboratory data, and molecular analysis using a DNA marker it was decided that he was affected by PWS. Conclusions: As healthcare professionals, we emphasize the need for approaching each person who has PWS as an individual and to be sensitive to traits and choose the most appropriate therapeutic approach.

Original languageEnglish
Pages (from-to)50-53
Number of pages4
JournalAmerican Journal of Case Reports
Publication statusPublished - 2010


  • Cryptorchidism
  • Genetic syndrom
  • Obesity
  • Prader-Willi Syndrome (PWS)


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