ETIOLOGIES, SEX ASSIGNMENT, AND TREATMENT OUTCOMES IN PATIENTS WITH DISORDERS OF SEX DEVELOPMENT

摘要

Managing patients with disorder of sex development (DSD) is challenging. The Siriraj Intersex Care Team has provided multidisciplinary care for DSD patients since 2006. In this study, we aimed to identify the etiologies, clinical manifestations, gender assignments, and treatment outcomes of DSD patients. A retrospective study of DSD patients seen between 2002 and 2014 was performed. Patients who presented with ambiguous genitalia or who had external genitalia discordant with their genotypes were recruited. 46,XX patients with congenital adrenal hyperplasia were excluded because they were not routinely cared for by the intersex care team. There was a total of 191 patients. 46,XY DSD was the most common classification (85.3%). The common causes of 46,XY DSD were unknown etiology (40.5%) and developmental defect (36.2%). 5-alpha reductase deficiency and androgen insensitivity syndrome were found in 9.2% and 4.9% of patients, respectively. The sex chromosome DSD was found in 10.5% of cases, and mixed gonadal dysgenesis was the most common diagnosis (65%). 46,XX DSD was found in 4.2% of the patients, and most of those had ovotesticular DSD (62.5%). The male sex had been assigned to 82.7% of the patients. The external masculinization score was significantly higher among patients with male-sex assignment (p 0.001). In both male and female sex-assigned patients, the median frequency of surgery was 2 times. Fistulae were common (33.6%) among male assigned patients who had undergone urethroplasty. Diagnosis remained inconclusive for 40% of the 46,XY DSD patients, and more extensive genetic testing would be required to yield a diagnosis.