Analysis Of CYP21A2 Mutations In Children With Hyperandrogenemia

Objective:To study the relationship between 21 hydroxylase gene mutations and hyperandrogenemia in children.Methods:43 children was evaluated. The inclusion criteria were t he presences of clinical hyperandrogenemia. The mean age is 10.4±2.9y ears (5.17-15.83). All patients had proceed ACTH stimulation test and gene test. Patients were divided into three groups on the basis ofgene. Normal (n=18), nonsense mutation(n=19) and abnormality mutations(n= 6). Stimulated 17-OHP,cortisol, androstenedione and dehydroepiandros terone concentrations of three groups were compared to study the relati onship between 21 hydroxylase gene mutations and hyperandrogenemia. Comparing 17-OHP peak with international diagnostic criteria to und erstand the diagnostic value of ACTH stimulation test in our hospital to non-classical 21-OHD as well as the cutting off value of the 17-OHP paek.Results:6 cases gene mutations were found among 43 cases (13.9%) including:V281L mutation 3cases, I172N mutation 2cases, I2g mutation lcases. Nonsense mutation 19 cases, the most common mutations is c.29-31 TGC missing (34.8% 15/43), followed by S494N, for R103K again.One mutation has not be reported:T124I. Compared with other two groups,base and stimulated 17-OHP concentrations of abnormality mutations group are higher (P<0.05). Cortisol peak of abnormality mutations group is lower than the other two groups (P< 0.01). Base and stimulated androstenedione and dehydroepiandrosterone value had no statistical significance. No statistical difference was found between cortisol basic values. In abnormality mutations group,17 OHP peak and diagnostic criteria of 30 nmol/L is no statistical difference.Conclusion:6 cases were found abnormality gene mutations in 43 cases respectively V281L, I172N,I2g.17-OHP peak after ACTH stimulation test is one of the important indicator for diagnosis non-classical 21-OHD.