Research Article, J Genit Syst Disor S Vol: 0 Issue: 1
Anomalies of 46, XY Sexual Differentiation-The Role of SRY and NR5A1
| Dulce R Guedes1*, Patrícia Pieri2, Rennee Zon Filippi3, Kenneth McElreavey4, Charles Sultan5, Vaê Dichtchekenian6, Nuvarte Setian7 and Durval Damiani6,7 | |
| 1Children’s Institute, School of Medicine, University of São Paulo (USP), Santos, Brazil | |
| 2Institute of Biosciences, University of São Paulo (USP), São Paulo, Brazil | |
| 3Pathological Anatomy Department, Orthopedics and Traumatology Institute, University of São Paulo (USP), São Paulo, Brazil | |
| 4Department of Human Developmental Genetics, Pasteur Institute, Paris, France | |
| 5Department of Hormonology Services, Lapeyronie Hospital, CHU Montpellier, France | |
| 6Pediatric Endocrinology Unit, Children’s Institute, São Paulo, Brazil | |
| 7Department of Pediatrics, School of Medicine, University of São Paulo (USP), São Paulo, Brazil | |
| Corresponding author : Dulce R Guedes Rua Anália Franco, 40 Santos, SP, CEP: 11040-070, Brazil Tel: +55 13 32384109 / 55 13 97825817 E-mail: dulce_guedes@uol.com.br |
|
| Received: May 21, 2013 Accepted: August 27, 2013 Published: September 06, 2013 | |
| Citation: Guedes DR, Pieri P, Filippi RZ, McElreavey K, Sultan C, et al. (2013) Anomalies of 46, XY Sexual Differentiation-The Role of SRY and NR5A1. J Genit Syst Disor S1. doi:10.4172/2325-9728.S1-005 |
Abstract
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.
