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A Case Report of Primary Ovarian Failure in an Adolescent Associated With a Homozygous Pathogenic Variant in the
Jessy Epstein1, Simrat Veera1, John Pappas2
1Department of Pediatrics, Division of Pediatric Endocrinology, New York University Grossman School of Medicine, New York, New York.
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.
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