Ovotesticular Difference of Sex Development Presenting as Episodic Hematuria in a Young Adult

Ovotesticular difference of sex development (OT-DSD) is a rare condition characterized by the presence of both ovarian and testicular tissue in the same individual.Its clinical presentation is highly variable, and diagnosis may occasionally be delayed until adulthood.We describe a 26-year-old individual, reared as male, who presented with episodic hematuria since puberty associated with lower abdominal pain.Examination revealed bilateral gynecomastia, atypical male genitalia with microphallus, proximal hypospadias, and asymmetric gonads.Hormonal evaluation revealed elevated serum luteinizing hormone and low testosterone, suggestive of hypergonadotropic hypogonadism.Pelvic and inguinoscrotal imaging demonstrated left-sided Müllerian structures, a left pelvic gonad, and a right scrotal gonad.Further karyotypic evaluation followed by fluorescence in situ hybridization (FISH) established the 46,XX SRYnegative status, while whole-exome sequencing did not identify any pathogenic or likely pathogenic variants in genes RSPO1, WNT4, WT1, SOX9, SOX3, NR5A1 or NR2F2.Following multidisciplinary evaluation, the patient underwent surgical removal of the Müllerian structures and left gonad.Histopathological study confirmed the presence of ovarian tissue in the excised left gonad and testicular tissue in the right scrotal gonad.Thus, diagnosis of OT-DSD was established.Testosterone replacement therapy was initiated in accordance with the male gender identity.This case highlights the marked phenotypic variability of OT-DSD and the possibility of delayed diagnosis despite significant genital abnormalities.It also emphasizes the importance of a multidisciplinary approach to the management of OT-DSD.The underlying molecular mechanism remained unresolved despite genetic evaluation.