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Open Access Research article

Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family

Reginaldo J Petroli1, Andréa T Maciel-Guerra23, Fernanda C Soardi1, Flávia L de Calais1, Gil Guerra-Junior34 and Maricilda Palandi de Mello13*

Author Affiliations

1 Centro de Biologia Molecular e Engenharia Genética (CBMEG), Universidade de Campinas (UNICAMP), Avenida Cândido Rondon 400, Campinas, 13083-875, SP, Brasil

2 Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade de Campinas (UNICAMP), Rua Tessália Vieira de Camargo 126, Campinas, 13081-970, SP, Brasil

3 Grupo Interdisciplinar de Estudos da Determinação e Diferenciação do Sexo (GIEDDS); Faculdade de Ciências Médicas, Universidade de Campinas (UNICAMP), Rua Tessália Vieira de Camargo 126, Campinas, 13081-970, SP, Brasil

4 Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade de Campinas (UNICAMP), Rua Tessália Vieira de Camargo 126, Campinas, 13081-970, SP, Brasil

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BMC Research Notes 2011, 4:173  doi:10.1186/1756-0500-4-173

Published: 6 June 2011

Abstract

Background

The androgen insensitivity syndrome may cause developmental failure of normal male external genitalia in individuals with 46,XY karyotype. It results from the diminished or absent biological action of androgens, which is mediated by the androgen receptor in both embryo and secondary sex development. Mutations in the androgen receptor gene, located on the X chromosome, are responsible for the disease. Almost 70% of 46,XY affected individuals inherited mutations from their carrier mothers.

Findings

Molecular abnormalities in the androgen receptor gene in individuals of a Brazilian family with clinical features of severe forms of partial androgen insensitivity syndrome were evaluated. Seven members (five 46,XY females and two healthy mothers) of the family were included in the investigation. The coding exons and exon-intron junctions of androgen receptor gene were sequenced. Five 46,XY members of the family have been found to be hemizygous for the c.3015C>T nucleotide change in exon 7 of the androgen receptor gene, whereas the two 46,XX mothers were heterozygote carriers. This nucleotide substitution leads to the p.L830F mutation in the androgen receptor.

Conclusions

The novel p.L830F mutation is responsible for grades 5 and 6 of partial androgen insensitivity syndrome in two generations of a Brazilian family.