A young adult patient with 46XX congenital adrenal hyperplasia (CAH) presented with recurrent painful haematuria. CAH was diagnosed at birth following ambiguous genitalia. Hormonal treatment was started, female gender was… Click to show full abstract
A young adult patient with 46XX congenital adrenal hyperplasia (CAH) presented with recurrent painful haematuria. CAH was diagnosed at birth following ambiguous genitalia. Hormonal treatment was started, female gender was assigned and feminising genitoplasty was planned, however the patient was lost to follow-up. Gender dysphoria started to occur during childhood which prompted the family to raise the patient as a boy. He eventually identified himself as a male. Examination revealed a male phenotype with severely virilised genitalia. Imaging studies confirmed the presence of uterus with low confluent urogenital sinus. Total abdominal hysterectomy with bilateral salpingo-oophorectomy was performed, and the troublesome symptoms were cured.
               
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