Clinical And Genetic Analysis Of 8 Patients With 17alpha-hydroxylase/17,20-lyase Deficiency

Objective:To explore the clinical phenotypic characteristics of 17?-hydroxylase/17,20-lyase deficiency and the correlation between clinical phenotype and genotype by analyzing the clinical manifestations and genetic basis of 5 patients with17?-hydroxylase/17,20-lyase deficiency.Methods:Summarizing and analyzing the clinical manifestations,hormone levels,imaging examinations,gene mutations and therapeutic effect of 5 patients with 17?-hydroxylase/17,20-lyase deficiency diagnosed in the Children's Hospital of Chongqing Medical University from 2016 to 2019.Results: The karyotypes of 3 cases were 46 XY,2 cases were 46 XX,all of them were female genitalia.Three cases were combined with low renin hypertension,3 cases were combined with low blood potassium,3 cases had local skin pigmentation.The results of routine laboratory examination and ACTH excitation test were in accordance with the pathological mechanism of 17 OHD.The mutation of CYP17A1 gene was found in 5 children by gene sequencing,c.1077G>C/p.E359 D mutation was not reported.Four cases were treated with regular glucocorticoid replacement therapy,2 cases were treated with glucocorticoid receptor antagonists at the same time.All of the 5 children were raised by females.One of them had testicles removed,and one of them was suspected to have bilateral testicles removed due to inguinal hernia.Estrogen supplementation had been started to promote the development of female secondary sexual signs.Conclusion: 17 OHD is characterized by hypoadrenocortical function and impaired sex hormone synthesis.It needs to be diagnosed according to its clinical characteristics,steroid hormone level,ACTH stimulation test and gene sequencing.Generally,the age of diagnosis is later.Its clinical manifestations were related to genotype,c.1077(exon6)g>C/p.E359 D was an unreported pathogenic mutation.Regular glucocorticoid replacement and salt corticoid receptor antagonists have satisfactory effect.Adolescent women can supplement estrogen to promote the development of female secondary sexual signs.