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

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Huhtaniemi , I , Hovatta , O , La Marca , A , Livera , G , Monniaux , D , Persani , L , Heddar , A , Jarzabek , K , Laisk-Podar , T , Salumets , A , Tapanainen , J S , Veitia , R A , Visser , J A , Wieacker , P , Wolczynski , S & Misrahi , M 2018 , ' Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency ' , Trends in Endocrinology and Metabolism , vol. 29 , no. 6 , pp. 400-419 . https://doi.org/10.1016/j.tem.2018.03.010

Title: Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency
Author: 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
Contributor: University of Helsinki, Clinicum
University of Helsinki, Reproductive Disease Modeling
Date: 2018-06
Language: eng
Number of pages: 20
Belongs to series: Trends in Endocrinology and Metabolism
ISSN: 1043-2760
URI: http://hdl.handle.net/10138/302404
Abstract: 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.
Subject: FOLLICLE-STIMULATING-HORMONE
TRANSFER-RNA SYNTHETASE
OF-FUNCTION MUTATIONS
PERRAULT SYNDROME
IN-VITRO
HYPERGONADOTROPIC HYPOGONADISM
PRIMORDIAL FOLLICLE
FSH RECEPTOR
HEARING-LOSS
CHROMOSOMAL INSTABILITY
3123 Gynaecology and paediatrics
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