Hypogonadism in Patients with Prader Willi Syndrome: A Narrative Review.
Prader-Willi syndrome
chromosome 15 abnormalities
genomic imprinting
hypogonadism
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
17 Feb 2021
17 Feb 2021
Historique:
received:
15
01
2021
revised:
09
02
2021
accepted:
16
02
2021
entrez:
6
3
2021
pubmed:
7
3
2021
medline:
14
4
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 33671467
pii: ijms22041993
doi: 10.3390/ijms22041993
pmc: PMC7922674
pii:
doi:
Substances chimiques
Hormones
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
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