Late-Diagnosed 46, XX Congenital Adrenal Hyperplasia Presenting as Male Phenotype in Adolescence: Clinical and Gender Assignment Challenges

Abstract

Background: Congenital adrenal hyperplasia (CAH), most commonly caused by 21-hydroxylase deficiency, can lead to varying degrees of virilization in 46, XX individuals. Early diagnosis is important for appropriate medical care and informed gender assignment. This case is notable for its late presentation in an adolescent who had been raised as male since birth, creating a challenging intersection of endocrine disease, gender assignment, and psychosocial considerations in a resource-limited setting. Case Summary: An 11-year-old child from a remote mountainous region, raised as male since birth, was referred for evaluation of presumed undescended testes and hypospadias. Examination showed pubic hair development, a small phallus, penoscrotal hypospadias, non-palpable gonads, and labial folds resembling a scrotal sac. There was no history of salt-wasting crises, vomiting, dehydration, or failure to thrive. Initial evaluation raised concern for a disorder of sex development. Ultrasound suggested the presence of ovaries, which was confirmed by pelvic MRI showing a uterus and bilateral ovaries with absent testes. Serum 17-hydroxyprogesterone was markedly elevated at 110 ng/mL, electrolytes were normal, and karyotyping revealed a 46,XX pattern. The findings were consistent with 46,XX CAH due to partial 21-hydroxylase deficiency. The diagnosis also raised a significant gender-assignment dilemma because the child had been raised as male, and the parents wished to continue male upbringing. A multidisciplinary team involving paediatric endocrinology, surgery, gynaecology, psychiatry, and ethics was involved in evaluating management options. Conclusion: This case highlights how a delayed diagnosis of CAH can extend beyond an endocrine disorder and become a complex medical and psychosocial challenge. Clinicians should consider CAH in children and adolescents presenting with ambiguous genitalia or virilization. Early screening, timely diagnosis, multidisciplinary care, and sensitive counselling are essential for supporting the patient’s long-term health and well-being. Key Words: Congenital Adrenal Hyperplasia, Male Phenotype.