Article
Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency.
Trends in endocrinology and metabolism: TEM - 1 Jun 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 A, Visser Jenny A, Wieacker Peter, Wolczynski Slawomir, Misrahi Micheline
Abstract excerpt
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...
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