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.
- adrenal disorders
- reproductive medicine
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Contributors NAA performed the literature review and wrote the manuscript, MHMA was involved in the patient’s care and RR was involved in the patient’s care, critically reviewed and edited the manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
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