Hypogonadism in Patients with Prader Willi Syndrome: A Narrative Review

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.

Automated summary

Prader-Willi syndrome is a complex genetic disorder associated with the lack of a functional paternal copy of chromosome 15q11-q13, leading to a range of clinical manifestations. Hypogonadism is a common issue in PWS, and understanding its causes and exploring potential therapies is essential for improving quality of life for patients. Additional research is needed to clarify the genetic factors involved in hypogonadism and establish evidence-based treatments.