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Medical Science Monitor Basic Research


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

Am J Case Rep 2010; 11:50-53

ID: 878472

Available online:

Published: 2010-03-12


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.

Keywords: Obesity, Cryptorchidism, Prader-Willi Syndrome (PWS), genetic syndrom