Journal of Genital System & DisordersISSN: 2325-9728

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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: [email protected]
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.

Keywords: Disorders of sex development; NR5A1; SRY

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