Novel insights in Turner syndrome.
Journal
Current opinion in pediatrics
ISSN: 1531-698X
Titre abrégé: Curr Opin Pediatr
Pays: United States
ID NLM: 9000850
Informations de publication
Date de publication:
01 08 2022
01 08 2022
Historique:
pubmed:
8
7
2022
medline:
19
7
2022
entrez:
7
7
2022
Statut:
ppublish
Résumé
Turner syndrome is the most common sex chromosome abnormality in female individuals, affecting 1/2000-1/2500 female newborns. Despite the high incidence of this condition, the mechanisms underlying the development of multiorgan dysfunction have not been elucidated. Clinical features involve multiple organ systems and include short stature, dysmorphic facial features, delayed puberty and gonadal failure, cardiac and renal abnormalities, audiologic abnormalities, and a high prevalence of endocrine and autoimmune disorders. Paucity of available genotype/phenotype correlation limits the ability of clinicians to provide accurate guidance and management. Given the advent of robust genetic testing and analysis platforms, developments in the genetic basis of disease are materializing at a rapid pace. The objective of this review is to highlight the recent advances in knowledge and to provide a framework with which to apply new data to the foundational understanding of the condition.
Identifiants
pubmed: 35796656
doi: 10.1097/MOP.0000000000001135
pii: 00008480-202208000-00023
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
447-460Informations de copyright
Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.
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