EC Paediatrics

Congenital adrenal hyperplasia (CAH) and thalassemia major are inherited autosomal recessive disorders, each with significant clinical implications when presenting in infancy. The concurrent occurrence of both conditions in a single patient is exceedingly uncommon and poses diagnostic and therapeutic challenges. We describe a male infant initially diagnosed with salt-wasting CAH at three months of age following an adrenal crisis. At one year, he was subsequently evaluated for persistent anemia and diagnosed with thalassemia major. Genetic analysis revealed a homozygous mutation in the CYP21A2 gene. This report emphasizes the importance of early recognition, genetic assessment, and coordinated multidisciplinary care, particularly in children born to consanguineous parents [1,3].

Keywords: Congenital Adrenal Hyperplasia (CAH); Thalassemia Major; CYP21A2 Gene

1. Navarro-Zambrana AN and Sheets LR. “Ethnic and national differences in congenital adrenal hyperplasia incidence: a systematic review and meta-analysis”. Hormone Research in Paediatrics 3 (2023): 249-258.
2. Li Z., et al. “Analysis of the screening results for congenital adrenal hyperplasia involving 7.85 million newborns in China: A systematic review and meta-analysis”. Frontiers in Endocrinology (Lausanne) 12 (2021): 624507.
3. Waheed U., et al. “A systematic review and meta-analysis on the epidemiology of hepatitis B and hepatitis C virus among beta-thalassemia major patients in Pakistan”. Journal of Laboratory Physicians 3 (2021): 270-276.
4. Arab-Zozani M., et al. “A systematic review and meta-analysis of stature growth complications in beta-thalassemia major patients”. Annals of Global Health 1 (2021): 48.
5. Alqahtani MM., et al. “Prevalence of thalassemia in Saudi Arabia: a systematic review and meta-analysis”. International Journal of Medicine in Developing Countries 10 (2024): 2903-2912.