CYP11B1 and congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: A Q356X heterozygous mutation was found in exon 6 of the CYP11B1 gene, which has previously been described in patients with an 11-beta-hydroxylase deficiency, and an R384X heterozygous alteration was found in exon 7 that results in a premature stop codon, causing the formation of a truncated protein without biological activity (Figs. 1-3).