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Congenital adrenal hyperplasia (CAH) is a genetic disorder affecting adrenal steroidogenesis, primarily caused by 21-hydroxylase deficiency, leading to various clinical presentations including adrenal crises and atypical genitalia. Management includes early diagnosis, glucocorticoid and mineralocorticoid replacement, and monitoring for long-term complications such as growth issues and metabolic syndrome. Newborn screening for CAH is crucial for reducing mortality and ensuring appropriate gender assignment a
- Author
- drpglim
- Language
- EN