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 / 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. - In: TRENDS IN ENDOCRINOLOGY AND METABOLISM. - ISSN 1043-2760. - 29:6(2018), pp. 400-419. [10.1016/j.tem.2018.03.010]

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

La Marca, Antonio;
2018

Abstract

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.
2018
26-apr-2018
29
6
400
419
Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency / 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. - In: TRENDS IN ENDOCRINOLOGY AND METABOLISM. - ISSN 1043-2760. - 29:6(2018), pp. 400-419. [10.1016/j.tem.2018.03.010]
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
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1170832
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