Anomalies of 46, XY Sexual Differentiation-The Role of SRY and NR5A1

Anomalies of 46, XY Sexual Differentiation-The Role of SRY and NR5A1

Objective: To screen for mutations in the SRY and NR5A1 genes in patients with 46, XY disorder of sex development (DSD) dysgenesis. Patients and methods: Genomic DNA from10 patients with 46, XY DSD dysgenesis was obtained from peripheral blood leukocytes to study NR5A1 and SRY mutations.

Results: Two patients presented mutations in the NR5A1 gene. Two mutations were in the hinge domain: c369 G>C (pgly 123 Ala) and c387 C>T (pPro 129 Leu); the pGly 123 Ala mutation was not pathologic. Another mutation involved one stop codon at position 404 of the NR5A1 protein, resulting in a truncated protein with only 404 amino acids.

Conclusion: A likely molecular etiology was found in two of the ten 46, XYDSD patients evaluated: c387 C>T (pPro129 Leu) and ptyr404 stop.