ABSTRACT

Background; Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) is a common autosomal recessive disorder caused by mutations in the CYP21A2 gene, which encodes 21-hydroxylase (an enzyme involved in aldosterone and cortisol biosynthesis), Aim and objectives: The aim of study was to evaluate the influence of NR3C1polymorphisms on the metabolic profile in a series of pediatric with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD). Subjects and methods: A case control study curried out at Mansoura university children hospital in endocrinology outpatient clinic during 2019-2020. The study held on 50 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD). Result: No significant differences were found between obese CAH patients versus non obese CAH patients regarding genotypes. No significant differences were found between CAH patients with MS versus CAH patients without MS regarding genotypes, Conclusion: Our results suggest that NR3C1 polymorphism could be involved with a susceptibility to adverse metabolic profile in pediatric CAH patients. GG genotype and G allele of rs6198 genotype have significant risk to CAH. However, rs41423247 genotype was non significantly correlated with CAH. The rs41423247 and rs6198 genotype variants and alleles were comparable between obese and non-obese CAH patients, between obese CAH patients with or without metabolic syndrome and between poor and adequate hormonal control. Our novel findings may contribute to further studies on the clinical relevance and prognostic value of assessing NR3C1 gene haplotypes towards individualized treatment for CAH patients.
Keywords; Congenital adrenal hyperplasia, 21-hydroxylase, metabolic profile, prognostic, mutations, Polymorphism.