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.
Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency / I. Huhtaniemi, O. Hovatta, A. La Marca, G. Livera, D. Monniaux, L. Persani, A. Heddar, K. Jarzabek, T. Laisk-Podar, A. Salumets, J.S. Tapanainen, R.A. Veitia, J.A. Visser, P. Wieacker, S. Wolczynski, M. Misrahi. - In: TRENDS IN ENDOCRINOLOGY AND METABOLISM. - ISSN 1043-2760. - 29:6(2018 Jun), pp. 400-419.
|Titolo:||Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency|
PERSANI, LUCA [Writing – Original Draft Preparation]
|Parole Chiave:||exome; genetics; in vitro activation of dormant follicles; meiosis genes; ovary; primary ovarian insufficiency|
|Settore Scientifico Disciplinare:||Settore MED/13 - Endocrinologia|
|Data di pubblicazione:||giu-2018|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1016/j.tem.2018.03.010|
|Appare nelle tipologie:||01 - Articolo su periodico|