Article
The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report.
Frontiers in endocrinology - 1 Jan 2020
Cattoni Alessandro, Spano Alice, Tulone Anna, Boneschi Annalisa, Masera Nicoletta, Maitz Silvia, Di Blasio Anna Maria, Persani Luca, Guizzardi Fabiana, Rossetti Raffaella
Abstract excerpt
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 due to the interaction of three potentially pathogenic variants of genes involved in ovarian maturation, namely...
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