Genetic Evaluation of Patients With Delayed Puberty and Congenital Hypogonadotropic Hypogonadism: Is it Worthy of Consideration?
genetics
hypogonadal hypogonadism
next-generation sequencing
pediatrics
puberty
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2020
2020
Historique:
received:
14
01
2020
accepted:
06
04
2020
entrez:
9
6
2020
pubmed:
9
6
2020
medline:
27
5
2021
Statut:
epublish
Résumé
Delayed puberty is a common reason of pediatric endocrinological consultation. It is often a self-limited (or constitutional) condition with a strong familial basis. The type of inheritance is variable but most commonly autosomal dominant. Despite this strong genetic determinant, mutations in genes implicated in the regulation of hypothalamic-pituitary-gonadal axis have rarely been identified in cases of self-limited delayed puberty and often in relatives of patients with congenital hypogonadotropic hypogonadism (i.e.,
Identifiants
pubmed: 32508745
doi: 10.3389/fendo.2020.00253
pmc: PMC7248176
doi:
Substances chimiques
Genetic Markers
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
253Informations de copyright
Copyright © 2020 Festa, Umano, Miraglia del Giudice and Grandone.
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