Genotype and clinical outcomes in children with congenital adrenal hyperplasia

Background The study aimed to delineate the genotypic features and endocrine / metabolic profiles in patients with 21‐hydroxylase deficiency. Methods Subjects were diagnosed with 21‐hydroxylase deficiency by direct Sanger sequencing or multiple ligation‐dependent probe amplification analysis and followed up in Pusan National University Children's Hospital from July 2008 to April 2019. The genotype, phenotype, and endocrine and metabolic profiles...