In this study, we aimed to define the molecular spectrum of CYP11B1 gene mutations in 6 Turkish patients and to evaluate the phenotype-genotype correlation.
In patients who were considered to have 11-beta hydroxylase deficiency by Endocrinology Department and Pediatric Endocrinology Department, CYP11B1 gene sequence analysis using a next-generation sequencing platform was performed in Medical Genetics Department, Faculty of Medicine, Ege University. Mutations detected were then confirmed by Sanger sequencing method.
In this study, 7 different CYP11B1 gene mutations were detected in 6 patients who were referred to molecular analysis due to sex development disorder. Four patients carried the same mutation on both alleles, whereas 2 patients were compound heterozygous. Cardinal phenotypic features of the patients were ambiguous genitalia, hypertension, hypokalemia, and gynecomastia. Two of the 7 mutations were detected for the first time in this study. These were p.R120G and p.A199P mutations.
In cases presenting with adrenogenital syndrome, if their endocrine test results are consistent with 11-beta hydroxylase deficiency, molecular analysis should be performed.