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Hypogonadism in Patients with Prader Willi Syndrome: A Narrative Review

2021; Multidisciplinary Digital Publishing Institute; Volume: 22; Issue: 4 Linguagem: Inglês

10.3390/ijms22041993

1661-6596

Luigi Napolitano, Biagio Barone, Simone Morra, Giuseppe Celentano, Roberto La Rocca, Marco Capece, Vincenzo Morgera, Carmine Turco, Vincenzo Caputo, Gianluca Spena, Lorenzo Romano, Luigi De Luca, Gianluigi Califano, Claudia Collà Ruvolo, Francesco Mangiapia, Vincenzo Mirone, Nicola Longo, Massimiliano Creta,

Epigenetics and DNA Methylation

Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder related to the lack of a functional paternal copy of chromosome 15q11-q13. Several clinical manifestations are reported, such as short stature, cognitive and behavioral disability, temperature instability, hypotonia, hypersomnia, hyperphagia, and multiple endocrine abnormalities, including growth hormone deficiency and hypogonadism. The hypogonadism in PWS is due to central and peripheral mechanisms involving the hypothalamus-pituitary-gonadal axis. The early diagnosis and management of hypogonadism in PWS are both important for physicians in order to reach a better quality of life for these patients. The aim of this study is to summarize and investigate causes and possible therapies for hypogonadism in PWS. Additional studies are further needed to clarify the role of different genes related to hypogonadism and to establish a common and evidence-based therapy.