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

作者：Huhtaniemi Ilpo; Hovatta Outi; La Marca Antonio; Livera Gabriel; Monniaux Danielle; Persani Luca; Heddar Abdelkader; Jarzabek Katarzyna; Laisk Podar Triin; Salumets Andres; Tapanainen Juha S; Veitia Reiner A; Visser Jenny A; Wieacker Peter; Wolczynski Slawomir; Misrahi Micheline^*

来源：Trends in Endocrinology and Metabolism, 2018, 29(6): 400-419.

DOI：10.1016/j.tem.2018.03.010

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.

• 出版日期2018-6
• 单位中国地震局; 东南大学