Congenital Adrenal Hyperplasia in Two Sisters in Calabar, Nigeria: Case Report and Challenges of Management
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Abstract
Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from defects in enzymes involved in cortisol biosynthesis. It is a rare but important cause of virilization and disorder of sexual development, particularly in resource-limited settings where diagnostic and treatment challenges persist. Familial clustering of CAH, though expected from its autosomal recessive inheritance, is only reported few times in Nigeria.
Case summary: We report two sisters aged 7 and 14 years from Calabar, Nigeria, who presented with symptoms and signs of androgen excess, virilization, deepening of voice, acne, hirsutism and latter with menstrual irregularities. Laboratory evaluation revealed elevated serum 17-hydroxyprogesterone and androstenedione levels. A diagnosis of classical (simple virilizing) congenital adrenal hyperplesia was made. Both patients were managed with hydrocortisone replacement therapy, leading to clinical improvement.
Conclusion: These cases highlight the familial occurrence of CAH in Nigeria and underscore the diagnostic and therapeutic challenges in low-resource settings. Training of Paediatric Endocrinologists, strengthening diagnostic capacity, ensuring drug availability, and instituting national newborn screening are essential for early diagnosis and improved outcomes.
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