Essential role of BRCA2 in ovarian development and function

Abstract

This case report describes two sisters with 46,XX karyotype and hypergonadotropic hypogonadism – i.e. ovarian dysgenesis. They had normal general development and normal cognition. With estrogen replacement they developed normal sex characteristics and reached their target height. Whole genome sequencing showed that they were compound heterozygous for truncating mutations in the BRCA2 gene resulting in reduced amounts of BRCA2 protein.