A Case Report of Primary Ovarian Failure in an Adolescent Associated With a Homozygous Pathogenic Variant in the Mitochondrial Poly-A-Polymerase Gene (MTPAP).
Jessy Epstein, Simrat Veera, John Pappas, Bina Cherryl Shah
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引用次数: 0
Abstract
Background: Primary ovarian insufficiency (POI) is ovarian dysfunction that leads to suboptimal estrogen production and irregular or absent menses. Many causes of POI are idiopathic. Genetic testing may help identify novel causes of POI.
Case presentation: An adolescent female presented with primary ovarian insufficiency. Her hormonal workup was significant for hypergonadotropic hypogonadism. She was found to have a likely pathogenic variant in the MTPAP gene on whole exome sequencing. This nuclear gene encodes a polymerase that affects mitochondrial mRNA degradation.
Conclusion: Ovarian tissue is highly reliant on mitochondria for steroidogenesis. A genetic variant that affects mitochondrial function, such as the one in our patient, is likely to have profound effects on ovarian function. We hypothesize that this patient's variant in the MTPAP gene caused POI.
期刊介绍：
Journal of Pediatric and Adolescent Gynecology includes all aspects of clinical and basic science research in pediatric and adolescent gynecology. The Journal draws on expertise from a variety of disciplines including pediatrics, obstetrics and gynecology, reproduction and gynecology, reproductive and pediatric endocrinology, genetics, and molecular biology.
The Journal of Pediatric and Adolescent Gynecology features original studies, review articles, book and literature reviews, letters to the editor, and communications in brief. It is an essential resource for the libraries of OB/GYN specialists, as well as pediatricians and primary care physicians.
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