Objective To investigate the etiology and clinical manifestation of 46,XY disorders of sex development(DSD). Method The clinical data were analysed,DNA fragments of related genes from parts of patients were directly sequenced to detect gene mutation. Results The social genders of 25 cases were male,and the others were female.Including 3 cases of androgen insensitivity syndrome,3 cases of ovotesticular DSD,8 cases of 5 α-reductase deficiency,2 cases of Kallmann syndrome and 2 cases of 46,XY pure gonadal dysgenesis.Sequencing analysis of SRD5A2 revealed 8 cases with mutations.One case carried a mutation of AR and another one had a mutation of FGFR1. Conclusions Early diagnosis and treatment of 46,XY DSD is greatly import,which can help to reduce the impact of the disease on patient's physiology and psychology.Direct DNA sequencing analysis of candidate genes would be valuable to identify etiology.
Key words
46,XY disorders of sex development /
clinical characteristics /
etiology analysis
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