Spectrum e determinanti delle disfunzioni dello sviluppo sessuale 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 geni