Spectrum and determinants of disorders of sex development in Sudan

This study characterizes disorders of sex development (DSD) in 60 Sudanese patients recruited from Khartoum (2021 - 2022), revealing a high rate of late presentation (63.3% post-puberty), consanguinity, and female genital mutilation (FGM) in 75% of cases with genotype - phenotype discordance. Karyotyping showed 61.7% had a 46,XY karyotype and 31.7% a 46,XX karyotype, with 33.3% exhibiting discordance between chromosomal sex and sex of rearing. SRY gene analysis by PCR was negative in 10% of patients, and Sanger sequencing in a subset of 46,XY individuals identified five novel SRY mutations in seven patients. The findings underscore the influence of sociocultural practices such as female genital mutilation, and consanguinity on the expression and management of disorders of sex development in Sudan. The study offers critical insights from an underrepresented African population and addressing a gap in global literature on disorders of sex development.