Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency

Publication date: June 2018
Source:Trends in Endocrinology & Metabolism, Volume 29, Issue 6
Author(s): Ilpo Huhtaniemi, Outi Hovatta, Antonio La Marca, Gabriel Livera, Danielle Monniaux, Luca Persani, Abdelkader Heddar, Katarzyna Jarzabek, Triin Laisk-Podar, Andres Salumets, Juha S. Tapanainen, Reiner A. Veitia, Jenny A. Visser, Peter Wieacker, Slawomir Wolczynski, Micheline Misrahi
Primary ovarian insufficiency (POI) affects ∼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.



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