New genetics in congenital hypothyroidism.
Congenital hypothyroidism
Dyshormonogenesis
Epigenetics
Genetics
Oligogenism
Thyroid dysgenesis
Journal
Endocrine
ISSN: 1559-0100
Titre abrégé: Endocrine
Pays: United States
ID NLM: 9434444
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
02
11
2020
accepted:
21
01
2021
pubmed:
3
3
2021
medline:
9
7
2021
entrez:
2
3
2021
Statut:
ppublish
Résumé
Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder and one of the most common preventable forms of mental retardation worldwide. CH is due to thyroid development or thyroid function defects (primary) or may be of hypothalamic-pituitary origin (central). Primary CH is caused essentially by abnormal thyroid gland morphogenesis (thyroid dysgenesis, TD) or defective thyroid hormone synthesis (dyshormonogenesis, DH). TD accounts for about 65% of CH, however a genetic cause is identified in less than 5% of patients. The pathogenesis of CH is largely unknown and may include the contribution of individual and environmental factors. During the last years, detailed phenotypic description of patients, next-generation sequence technologies and use of animal models allowed the discovery of novel candidate genes in thyroid development, function and pathways. We provide an overview of recent genetic causes of primary and central CH. In addition, mode of inheritance and the oligogenic model of CH are discussed.
Identifiants
pubmed: 33650047
doi: 10.1007/s12020-021-02646-9
pii: 10.1007/s12020-021-02646-9
doi:
Substances chimiques
Thyroid Hormones
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
696-705Références
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