Advances in the molecular pathophysiology, genetics, and treatment of primary ovarian insufficiency - CNRS - Centre national de la recherche scientifique Accéder directement au contenu
Article Dans Une Revue (Article De Synthèse) Trends in Endocrinology and Metabolism = Trends in Endocrinology & Metabolism Année : 2018

Advances in the molecular pathophysiology, genetics, and treatment of primary ovarian insufficiency

Reiner Veitia
Micheline Misrahi
  • Fonction : Auteur correspondant

Résumé

Primary ovarian insufficiency (POI) affects similar to 1% of women before 40 years of age. The recent leap in genetic knowledge obtained by next generation sequencing (NGS) together with animal models has further elucidated its molecular pathogenesis, identifying novel genes/pathways. Mutations of > 60 genes emphasize high genetic heterogeneity. Genome-wide association studies have revealed a shared genetic background between POI and reproductive aging. NGS will provide a genetic diagnosis leading to genetic/therapeutic counseling: first, defects in meiosis or DNA repair genes may predispose to tumors; and second, specific gene defects may predict the risk of rapid loss of a persistent ovarian reserve, an important determinant in fertility preservation. Indeed, a recent innovative treatment of POI by in vitro activation of dormant follicles proved to be successful.

Dates et versions

hal-02628564 , version 1 (26-05-2020)

Identifiants

Citer

Ilpo Huhtaniemi, Outi Hovatta, Antonio La Marca, Gabriel Livera, Danielle Monniaux, et al.. Advances in the molecular pathophysiology, genetics, and treatment of primary ovarian insufficiency. Trends in Endocrinology and Metabolism = Trends in Endocrinology & Metabolism , 2018, 29 (6), pp.400-419. ⟨10.1016/j.tem.2018.03.010⟩. ⟨hal-02628564⟩
9 Consultations
0 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More