Introduction: Sexual differentiation involves numerous genetic factors, including NR5A1 (Nuclear Receptor Subfamily 5 group A member 1), also known as SF1 (Steroidogenic Factor 1) or A4BP (Adrenal 4 Binding Protein), which is expressed very early in the undifferentiated gonad. Variants of this gene can cause Disorders of Sexual Development (DSD). The aim of this study was to identify variants of the NR5A1 gene in a cohort of patients with DSD. Materials and Methods: Ten patients registered as female at birth were selected from those referred for genetic tests to diagnose a sexual anomaly. After obtaining informed consent, we performed DNA (Deoxyribonucleic Acid) extraction in EDTA tubes, followed by polymerase chain reaction (PCR) amplification and Sanger sequencing of exon 4 of the NR5A1 gene. Results: The entire cohort (100%) presented at least one variant in exon 4 of the NR5A1 gene. In total, seven (7) different positions within this exon exhibited variants, including the c.437G>C (p.Gly146Ala) variant, which was present in the entire cohort (100%). Conclusion: For the first time in Senegal, variants of the NR5A1 gene have been identified in patients with disorders of sexual development. The c.437G>C (p.Gly146Ala) variant can be found in a variety of phenotypes.
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