46,XX Disorders of Sex Development: A Case with p.Arg92Trp Variant in NR5A1

Abstract Ovotesticular (OT) disorders of sex development (DSDs) are marked by the simultaneous presence of ovarian and testicular tissues within the gonads. The appearance of external genitalia does not necessarily correlate with gonadal histology. Variants in the NR5A1 gene can result in SRY-negative DSD. In this report, we present a case involving a variant in the NR5A1 gene. A 3-year-old phenotypic male presenting with micropenis, penile hypospadias, and a bifid scrotum was identified to have a c.274C > T, p.Arg92Trp variant in the NR5A1 gene, along with a 46,XX karyotype. Genetic factors such as variants in the NR5A1 gene, independent of SRY, can lead to the development of both testicular and OT DSDs, possibly manifesting in varying gender phenotypes.