The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report

The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report

Non-syndromic primary ovarian insufficiency due to ovarian dysgenesis in 46,XX patients is an uncommon finding in the general population, even though several monogenic variants have been reported as causative factors. Here, we describe a 15-year-old patient diagnosed with gonadal dysgenesis possibly...

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Bibliographic Details
Main Authors: Alessandro Cattoni, Alice Spano, Anna Tulone, Annalisa Boneschi, Nicoletta Masera, Silvia Maitz, Anna Maria Di Blasio, Luca Persani, Fabiana Guizzardi, Raffaella Rossetti
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-09-01
Series:Frontiers in Endocrinology
Subjects:
primary ovarian insufficiency (POI)
gonadal dysgenesis (GD)
antimullerian hormone (AMH)
FIGLA gene
NOBOX gene
NR5A1 gene
Online Access:https://www.frontiersin.org/article/10.3389/fendo.2020.540683/full

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https://www.frontiersin.org/article/10.3389/fendo.2020.540683/full

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