The challenges in diagnosis and gender assignment in disorders of sex development presenting to a pediatric surgical unit in a developing country: the role of laparoscopy and simple tests for gender identity

Abstract

Objective We aimed to assess how the diagnosis and determination of gender identity of disorders of sex development (DSD) is different in a developing country from Western medicine, and whether a pediatric surgery department can determine the underlying diagnosis and use simple tools to determine the likely gender identity (GI). Material and methods We reviewed the records of DSD patients admitted to the Department of Pediatric Surgery, Chittagong Medical College & Hospital (CMCH), Chittagong, Bangladesh, from January 2006 to December 2012 and performed a cross-sectional study on GI and gender-related behavior in these patients during the year 2012. DSD boys and girls answered a GI interview and had their gender role behavior assessed by observations of structural toy play and analyzed for differences in scores. Results This cohort of DSD patients presented in mid-childhood (6 months-16 years, mean 6.9 years) rather than infancy, and 30% came from consanguineous unions. Congenital adrenal hyperplasia (CAH) constituted only 11 of 50 (22%) of the DSD cohort, and not all families had access to steroid hormone replacement. A simple assessment of GI and gender-related behavior allowed effective gender assignment, as there was significant difference between DSD boys and girls in GI and gender-related behavior score. Conclusions DSD management in Bangladesh provides some unique challenges because of limited resources. A national reference laboratory for biochemical and genetic testing and development of a quaternary referral center for DSD patients will be helpful. Continued use of the GI interview and gender-related behavior study will enable effective interim decisions about diagnosis and management.