Background: The most prevalent form of Congenital adrenal hyperplasia (CAH) is 21-hydroxylase deficiency (21-OHD), which accounts for over 90% of CAH cases. This enzymatic defect results in decreased cortisol and aldosterone synthesis, leading to compensatory adrenocorticotropic hormone (ACTH) secretion and consequent adrenal hyperplasia and androgen excess. Objective: The study aimed to describe the clinical, biochemical, radiological, and outcome characteristics of congenital adrenal hyperplasia (CAH) with complete virilisation in a pediatric cohort.Methods: We conducted a retrospective review of nine 46, XX patients presenting with Prader stage IV or V virilisation, followed in the pediatric endocrinology department of Rabat Children’s Hospital over a 10-year period. Clinical presentation, hormonal profile, imaging, genotyping and follow-up were analysed. Results: All patients were diagnosed in the neonatal period. External genitalia were completely virilized (Prader IV–V), with no palpable gonads. Biochemical testing confirmed 21-hydroxylase deficiency in all cases. Salt-wasting crisis occurred in 55% of patients. Karyotyping confirmed 46, XX status. Early genital surgery was performed in six patients. Hydrocortisone and fludrocortisone replacement therapy were initiated. The long-term follow-up showed variable outcomes in terms of growth, bone age advancement, gender identity and surgical results. Conclusion: Complete virilisation in CAH requires early diagnosis and multidisciplinary management to optimise outcome and gender identity support. Delayed diagnosis and inadequate hormone replacement remain key challenges in developing settings.
Anguoud et al. (Wed,) studied this question.
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