Diagnosis and treatment for 46, XY disorder of sexual development

Abstract

Clinical data of 115 cases with 46, XY disorder of sexual development(46, XY DSD) collected from January 1981 to December 2013 were retrospectively analyzed. Among the 115 cases, 72 were socially female and 43 male. The mean age was (19.9±9.7) years (1-70). The 46, XY DSD was confirmed by medical history, physical examination, karyotype analysis, endocrine examination, imaging examination, endoscopic examination and pathological examination. Firstly, the gender was identified and selected. And then, the patients were given surgical treatment, drug therapy and psychological support. The surgical procedures included excision of the contradictory gonads and plasty of external genitalia in male or female individuals. Genetic examination showed that the sex chromosome karyotypes of all cases were 46, XY. The etiological classifications were indefinite in 46 patients and definite in 69 patients. The primary classification included gonadal dysgenesis, dysfunction of androgen synthesis or utilization, and others. Among the 115 patients, 12 cases were not treated for various reasons, 10 cases were treated with drug therapy alone, and 93 cases were given surgical and drug treatment. After the operation, 37 cases became male in gender and 56 cases female, and all of them were treated with respective hormone replacement. (Chin J Endocrinol Metab, 2015, 31: 195-198) Key words: 46, XY; Disorder of sexual development; Diagnosis; Treatment