17α羟化酶缺乏致46 XY性发育异常:13例临床分析OACSTPCD

Objective:To study the diagnosis and treatment of female(social gender)with 46XY 17α hydroxylase deficiency(17OHD).Methods:Retrospectively analyze the clini-cal data of those who were diagnosed as 17 alpha hydroxylase deficiency,the karyotype is 46XY while the social gender is female,from January 2006 to January 2023 in the First Affiliated Hos-pital of Zhengzhou university.Result:The average age of these 13 patients at diagnosis was(16.85±7.0)years,5 of them were missed diagnosis or misdiagnosis before definite diagnosis.Typical clinical characteristics of patients with 46XY 17α hydroxylase deficiency are lack of secondary sexual development,primary amenorrhoea with high gonadotrophin while low sex hor-mones,hypertension,hypokalemia,low level of cortisol,high ACTH level,adrenal cortex hyper-plasia,no uterine and accessories,delayed bone age.Three patients were diagnosed by detection of P450c17(CYP17A1)gene in our research and we found one case with p.Thr329 mutation,and one case with p.Thr329 mutation and p.Thr307Ala compound mutation.Appropriate glu-cocorticoid and sex hormone replacement and surgery can achieve satisfactory prognosis.No di-agnosis of malignancy among the 13 cases in this study,either the pathology of the resected tes-ticles or the imaging of the un-resected testicles.Conclusion:46XY 17α hydroxylase deficiency are rare diseases,typical patients could be easily diagnosed by clinical manifestation and rele-vant examination,however,many patients do not have typical clinical manifestations,therefore,diagnose is delayed.This suggest that doctors should improve the understanding of this disease,for suspected patients but with atypical clinical features,detection of P450c17(CYP17A1)gene is suggested.Close follow-up it is probably feasible for adolescents who desire to delay re-section of testis,but accumulation of a larger number of samples was needed in the future for the safety.