Advances in the molecular pathophysiology, genetics, and treatment of primary ovarian insufficiency
2018
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 | Visser, Jenny A. | Wieacker, Peter | Wolczynski, Slawomir | Misrahi, Micheline | Imperial College London | Nova Southeastern University (NSU) | Karolinska Institutet [Stockholm] | Università degli Studi di Modena e Reggio Emilia = University of Modena and Reggio Emilia (UNIMORE) | Institut National de la Santé et de la Recherche Médicale (INSERM) | Physiologie de la reproduction et des comportements [Nouzilly] (PRC) ; Institut National de la Recherche Agronomique (INRA)-Institut Français du Cheval et de l'Equitation [Saumur] (IFCE)-Université de Tours (UT)-Centre National de la Recherche Scientifique (CNRS) | Università degli Studi di Milano = University of Milan (UNIMI) | Istituto Auxologico Italiano | Université Paris-Sud - Paris 11 (UP11) | Polska Akademia Nauk = Polish Academy of Sciences = Académie polonaise des sciences (PAN) | Competence Centre on Health Technologies ; Partenaires INRAE | Tartu University Hospital | Helsingin yliopisto = Helsingfors universitet = University of Helsinki | Department of Obstetrics and Gynecology ; Institute of Clinical Medicine-University of Oulu [Finland] = Oulun yliopisto [Suomi] = Université d'Oulu [Finlande] | Université Paris Diderot - Paris 7 (UPD7) | Erasmus University Rotterdam | University Hospital Münster - Universitaetsklinikum Muenster [Germany] (UKM) | Medical University of Białystok (MUB)
International audience
Show more [+] Less [-]English. 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.
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