Hypogonadism in Patients with Prader Willi Syndrome: A Narrative Review.
Luigi NapolitanoBiagio BaroneSimone MorraGiuseppe CelentanoRoberto La RoccaMarco CapeceVincenzo MorgeraCarmine TurcoVincenzo Francesco CaputoGianluca SpenaLorenzo RomanoLuigi De LucaGianluigi CalifanoClaudia Collà RuvoloFrancesco MangiapiaVincenzo MironeNicola LongoMassimiliano CretaPublished in: International journal of molecular sciences (2021)
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.
Keyphrases
- growth hormone
- replacement therapy
- smoking cessation
- end stage renal disease
- primary care
- ejection fraction
- genome wide
- multiple sclerosis
- chronic kidney disease
- newly diagnosed
- stem cells
- gene expression
- prognostic factors
- bone marrow
- patient reported outcomes
- mesenchymal stem cells
- cell therapy
- drug induced
- bioinformatics analysis
- case control