-
1
Classic congenital adrenal hyperplasia (CAH) is primarily caused by 21-hydroxylase deficiency, leading to adrenal insufficiency and excessive androgen secretion.
-
2
Newborn screening for CAH is crucial for early detection, preventing morbidity and mortality associated with missed diagnoses, especially in 46,XX infants.
-
3
Treatment for classic CAH involves glucocorticoid and mineralocorticoid replacement to manage adrenal insufficiency and reduce androgen excess.
-
4
Children with CAH may experience complications such as premature adrenarche, precocious puberty, and increased risks of hypertension and obesity.
-
5
Psychosocial support and surgical considerations are important for families managing the bodily differences associated with CAH in affected children.
