Novel homozygous scaffold protein involved in DNA repair gene deletion causing primary ovarian insufficiency

Primary ovarian insufficiency (POI), loss of ovarian function before 40 years, often has a genetic basis in adolescents. We report a 16-year-old girl who presented with poor breast development and primary amenorrhea with elevated gonadotropins, low estradiol, and a 46,XX karyotype. Whole-exome sequencing identified a homozygous deletion involving exons 9–10 of the scaffold protein involved in DNA repair ( SPIDR) gene. Biallelic defects in SPIDR are a rare cause of autosomal recessive ovarian failure due to accelerated oocyte depletion. This case expands the mutational spectrum of SPIDR -associated POI and highlights the importance of comprehensive genomic testing, including structural variant analysis.