Disorders of Sex Development: Experience at a Tertiary Care Hospital in Bangladesh

In newborns, it is an emergency to decide the appropriate sex for rearing and eventual prevention associated metabolic disturbances. The birth of a baby with ambiguous genitalia inevitably precipitates a crisis for the baby and its family. This retrospective analysis of hospital data was designed to determine the chromosomal and etiological diagnosis of children presented with suspected disorders of sex development (DSD) according to the newer DSD consensus document. We retrospectively analyzed the available medical records of all patients admitted into the inpatient departments of Dhaka Shishu (Children) Hospital, Dhaka, Bangladesh from January 2014 to December 2019, and all patients with the diagnosis of DSD in the hospital record were initially selected for the study. A total of 60 admitted cases with a disorder of sex development were classified according to the new DSD classification. 46XX DSD were 63.3% (n=38), 46XY DSD were 33.3% (n=20), sex chromosome DSD were 3.3% (n=2). Among 38 cases of 46XX DSD, the most common cause was congenital adrenal hyperplasia (97.0%, n=37), one was 46XX testicular DSD. However, among 46XY DSD cases, partial androgen insensitivity/5α-reductase deficiency (50.0%, n=10) was most common disorder. Other causes of 46XY DSD included congenital adrenal hyperplasia (20.0%, n=4), testosterone synthesis defect (20.0%, n=4), testicular regression syndrome (n=1) and persistent Mullerian duct syndrome (n=1). Sex chromosome disorders are mixed gonadal dysgenesis (n=1), chimeric ovotesticular DSD (n=1). In this study, 46XX DSD was the commonest of all, showing the predominance of congenital adrenal hyperplasia, especially salt-losing type. Early detection and prompt treatment may help reduce mortality and morbidity from these acute life-threatening conditions.