Clinical, hormonal and radiological profile of 46XY disorders of sexual development.

摘要: Background and Objectives: 46 XY disorders of sexual development (DSD) cover a wide spectrum phenotypes ranging from unambiguous female genitalia to ambiguous male with hypospadias or dysgenetic gonads. Management these patients depends on the cause DSD, degree feminization, age at presentation, gender orientation. The aim this study was evaluate presentation management 46XY DSD our center. Patients Methods: All new old attending endocrine OPD in period 16 months were included study. Clinical, cytogenetic, hormonal, radiological evaluation done identify DSD. Results: Among 19 patients, eight diagnosed gonadal (one complete dysgenesis, four partial two congenital bilateral anorchia, one ovotesticular DSD) androgen synthesis action insensitivity syndrome [AIS], three AIS 5α reductase deficiency). In definitive diagnosis could not be made. Conclusions: etiology, assignment, orientation, hormonal treatment, genital surgery, consequent psychosocial implications. Due overlapping clinical biochemical parameters different subsets only preliminary etiological can made some cases. Genetic studies long-term follow-up are required for an accurate diagnosis.