Prader-Willi Syndrome: Clinical, Diagnostic, and Therapeutic Aspects

• DOI: https://doi.org/10.22533/at.ed.515721226100613

• Palavras-chave: Prader-Willi syndrome; Genetics; Obesity; Hyperphagia; Pediatric Endocrinology.

• Keywords: Prader-Willi syndrome; Genetics; Obesity; Hyperphagia; Pediatric Endocrinology.

• Abstract:

  Prader-Willi Syndrome (PWS) is a rare genetic disorder caused by the absence of expression of paternal genes located in the 15q11-q13 region of chromosome 15. It is characterized by neonatal hypotonia, feeding difficulties in the first months of life, followed by progressive hyperphagia, obesity, variable cognitive impairment, behavioral changes, and endocrine disorders. Early diagnosis is essential for proper management and prevention of complications. The aim of this study is to review the main clinical, diagnostic, and therapeutic aspects of SPW, highlighting the importance of a multidisciplinary approach. A narrative review of the literature was conducted using national and international scientific databases. The results demonstrate that early treatment with growth hormone, combined with nutritional management and multidisciplinary follow-up, contributes significantly to improving quality of life and reducing morbidity and mortality. It is concluded that in-depth knowledge of the syndrome is essential for early diagnosis and the implementation of effective therapeutic strategies.