Clinical Data And Genetic Analysis Of 56 Cases Of Congenital Adrenal Hyperplasia

Objective: Analyze the clinical data and genetic results of children with congenital adrenal hyperplasia（CAH）,improve clinicians’ understanding of the disease.Method: 56 children with congenital adrenal hyperplasia who were treated in the Department of Pediatrics of the First Affiliated Hospital of Xinjiang Medical University from January 2015 to January 2020 were collected,and clinical data were collated.Clinical symptoms,signs,laboratory tests,The imaging characteristics and genetic results were retrospectively analyzed,and the clinical characteristics,gene mutation distribution and frequency were summarized.Results: 1)Among 56 children,43 were Uyghur,10 were Han,2 were Hui,and 1 was Kazakh.2)According to the age of 56 patients,the difference between the last bone age and the actual age at the initial diagnosis age ≤ 3 years and the initial diagnosis age>3 years were statistically significant in 56 patients.3)There was a significant difference in the incidence of central precocious puberty between the age group at the first diagnosis of ≤3 years and the group of>3 years.Male children have a higher probability of developing central precocious puberty than female children.4)Complete genetic testing of 44 children,36 positive（81.8%）,of which 2 CYP11B1 gene mutations（c.394C>G,c.715₇31delTTC）and 3 CYP21A2 gene mutations（c.149T>C,c.1267₁350dup84）were found.,C.1455delG),etc.have not been reported before,and their pathogenicity has not been determined.Conclusion: 1)CAH diagnosis requires comprehensive evaluation from clinical manifestations,laboratory tests and genetic results.2)Delayed treatment and irregular treatment may increase the probability of central precocious puberty in children with CAH.3)Genetic testing is an important and reliable method for the diagnosis of CAH.The positive rate of genetic testing in this study is 81.8%.Pseudogene interference needs to be further excluded.