First Report of DAX1 Gene Mutations in Patients with Disorders of Sex Development in West Africa

Background: The NR0B1 gene (DAX1) is essential for adrenal and gonadal development. Mutations in DAX1 are associated with X-linked adrenal hypoplasia congenita and 46,XY disorders of sex development (DSD). However, no studies have explored DAX1 mutations in West African populations to date.

Methods: We screened the DAX1 gene in 28 Senegalese patients with DSD using PCR and Sanger sequencing. Identified variants were analyzed using in silico tools and compared to clinical presentations.

Results: Seven distinct variants were identified, including two previously unreported nonsynonymous mutations and two frameshift deletions. Some were found in 46,XY individuals with female phenotypes despite SRY positivity.

Conclusion: This is the first report of DAX1 mutation screening in a West African DSD cohort. Our findings underscore the value of incorporating DAX1 into molecular diagnostic strategies, particularly in underrepresented populations.

Keywords: DAX1, NR0B1, Disorders of Sex Development, Senegal, West Africa, Mutation Screening, SRY-negative, 46,XY DSD.