ESPE Abstracts

We report two patients with 45,X/46,X, idic (Y) gonadal dysgenesis (GD) diagnosed at birth based on genotype-phenotype discordance identified in the routine clinical follow-up during early pregnancy. Genotypic sex, as determined by cell free DNA testing was 45 XO in the first patient while phenotypic sex was male. Second patient was found to have a 46, XX genotype with SRY detected through rhesus incompatibility screening, while phenotypic sex was female. Postnatal ka...