Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency.

Research Question: Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 13-year-old girl with primary amenorrhoea?

Design: A case report of a next-generation sequencing panel of 24 genes associated with syndromal and non-syndromal POI was conducted.

Results: A homozygous missense variant c.1076C>T, p.

Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency.

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.