Absence of uterus and presence of verumontanum in a 46 XX patient with Congenital adrenal hyperplasia reared as male: A case report with literature review

Congenital adrenal hyperplasia (CAH) is an inherited disorder causing adrenal hormone imbalance and organ overgrowth, leading to phenotype-genotype mismatches. A 10-year-old phenotypic male with impalpable testes and hypospadias had ambiguous genitalia and an empty scrotum. Imaging showed intra-abdominal gonads and no uterus. Blood tests revealed low cortisol, high ACTH, and 17-OHP. Karyotyping confirmed 46 XX. CAH can virilize 46 XX individuals, sometimes resulting in male assignment. Late presentation with male identity may support gender choice for better psychological outcomes.