Clinical and genetic spectrum of classic congenital adrenal hyperplasia due to CYP21A2 mutations in a Taiwanese cohort.

Salt-wasting congenital adrenal hyperplasia was the predominant form in this Taiwanese cohort, and the CYP21A2 mutation spectrum was consistent with global reports.

The severity of virilization correlated with underlying enzymatic activity, supporting the clinical utility of genotyping for disease prediction and counseling.

However, discordant cases highlight the potential role of modifying factors and underscore the need for individualized clinical management.