RESUMEN
INTRODUCTION: There are several conditions giving rise to 46, XY disorders of sex development (DSD) with different modes of inheritance. Therefore definitive diagnosis based on molecular genetic confirmation would be the ideal to counsel parents regarding the future implications of the condition affecting their baby. This is the first report from Sri Lanka documenting the presence of mutations in the androgen receptor (AR) gene in a cohort of children with 46, XY DSD. OBJECTIVES: To describe the socio-demographic and clinical features and document the presence of mutations in the androgen receptor (AR) gene in a cohort of children with 46, XY DSD. METHODS: 46, XY patients with ambiguous genitalia followed up in the University Unit at the Lady Ridgeway Hospital, Colombo, and clinically identified as having androgen insensitivity syndrome (AIS) or a testosterone biosynthetic defect were recruited for the study. Their socio-demographic details and clinical features were documented. Exons 1 to 8 of the AR gene were screened for mutations by DNA sequencing on a venous blood sample. SRY gene mutations were also assayed. RESULTS: Thirty-four patients were studied, 3 of whom were clinically diagnosed as having complete androgen insensitivity syndrome (CAIS). Sex of rearing was female and male in 4 and 30 respectively. AR gene mutations were detected in 6 patients (17.6%). None of the patients had SRY gene mutations. CONCLUSIONS: Majority (88%) of the patients were raised as males. Six patients (17.6%) including the 3 with CAIS, had genetically confirmed AIS with the detection of AR gene mutations.