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Article Abstract
Research Question: Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 21-year-old woman with primary amenorrhoea?
Design: A karyotype and genetic testing for Fragile X syndrome was undertaken. A next-generation sequencing panel of 24 genes associated with syndromal and non-syndromal POI was conducted.
Results: A nonsense variant c.1336G>T, p.(Glu446Ter) and whole gene deletion in STAG3 were identified.
Conclusions: Biallelic loss of function variants in STAG3 are associated with primary ovarian failure type 8 and are a rare cause of POI.
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