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

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

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Pages (from-to)400-419
Number of pages20
JournalTrends in Endocrinology and Metabolism
Issue number6
Publication statusPublished - Jun 1 2018


  • exome
  • genetics
  • in vitro activation of dormant follicles
  • meiosis genes
  • ovary
  • primary ovarian insufficiency

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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