Congenital adrenal hyperplasia in children: a comprehensive review of clinical spectrum, diagnostic strategies, and management approaches.
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INTRODUCTION: Congenital adrenal hyperplasia (CAH) comprises a group of rare autosomal recessive disorders and is a leading cause of primary adrenal insufficiency in children. Most cases are due to classic 21-hydroxylase deficiency. Earlier diagnosis has been made possible with newborn screening, which has also reduced the risk of adrenal crises. This review is based on a search of PubMed, Embase, Scopus, and Medline for articles published from 2000 to 2025, using the terms "congenital adrenal hyperplasia", "21-hydroxylase deficiency", "primary adrenal insufficiency", and "steroidogenesis" with a focus on paediatric studies, clinical trials, systematic reviews, and consensus guidelines. CONTENT: The aims of clinical management are appropriate glucocorticoid and mineralocorticoid replacement, prevention of adrenal crises, monitoring of growth, puberty, and metabolic health. The main challenges include balancing androgen suppression with minimising glucocorticoid overexposure and monitoring for long-term complications such as early bone maturation and testicular adrenal rest tumours. Diagnostic accuracy and genotype-phenotype correlations have improved through advances in biochemical testing and molecular genetics. Newer and adjunctive therapies, including modified-release hydrocortisone, CRF1 receptor antagonists, adrenal-targeted drugs, and experimental gene therapies, may further improve disease management and simplify treatment. SUMMARY AND OUTLOOK: Effective management of CAH in children requires balancing optimal hormonal control with minimising treatment-related adverse effects. Newer and future therapies are expected to improve physiological management and long-term outcomes. Further research is needed to enhance individualised care and support transition to adult services.