Classical Congenital Adrenal Hyperplasia (CAH) in Childhood and Adolescence: Diagnosis and Management for Future Reproductive Life
2021
Congenital adrenal hyperplasia is a group of inherited disorders associated with decreased cortisol production and usually excessive adrenal sex steroid secretion. 21-Hydroxylase deficiency (21-OHd) is the most common cause. Depending on the functional residual enzymatic activity, clinical phenotypes are classified as classical 21-OHd CAH with prenatal onset, presentation of ambiguous genitalia at birth in females and with or without salt-wasting in both sexes. In prepubertal children, insufficient therapy causing exposure to elevated androgens is associated with decreased reproductive capability, specifically gonadal dysfunction in both sexes.
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