Abstract:21-hydroxylase deficiency (21-OHD) is the most common type of congenital adrenal hyperplasia. Phenotypically, 21-OHD can be divided into classical and non-classical (NC) forms. The genotype-phenotype correlation in 21-OHD is well established. The P30L mutation is usually associated with the NC form and common among Japanese patients with the NC form of 21-OHD. Herein, we report the clinical course of four patients with 21-OHD with the P30L mutation on one allele and loss-of-function variants on the other allel… Show more
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