Gene analysis in patients with premature ovarian failure or gonadal dysgenesis: A preliminary study

Massad-Costa, Ana Maria; da Silva, Ismael Dale Cotrim Guerreiro; Affonso, Regina; Soares, José Maria; Nunes, Márcia Gaspar; de Lima, Geraldo Rodrigues; Baracat, Edmund C.

doi:10.1016/j.maturitas.2007.04.005

« Previous Next »Maturitas
Volume 57, Issue 4 , Pages 399-404, 20 August 2007

Gene analysis in patients with premature ovarian failure or gonadal dysgenesis: A preliminary study

Ana Maria Massad-Costa
- Department of Gynecology, Federal University of São Paulo, Escola Paulista de Medicina, Brazil
Ismael Dale Cotrim Guerreiro da Silva
- Department of Gynecology, Federal University of São Paulo, Escola Paulista de Medicina, Brazil
Regina Affonso
- Department of Gynecology, Federal University of São Paulo, Escola Paulista de Medicina, Brazil
José Maria Soares Jr.
- Department of Gynecology, Federal University of São Paulo, Escola Paulista de Medicina, Brazil
- Corresponding author at: Rua Sena Madureira 1245 apt 11, 040210-051 São Paulo, SP, Brazil. Tel.: +55 11 50853681; fax: +55 11 50853681.
Márcia Gaspar Nunes
- Department of Gynecology, Federal University of São Paulo, Escola Paulista de Medicina, Brazil
Geraldo Rodrigues de Lima
- Department of Gynecology, Federal University of São Paulo, Escola Paulista de Medicina, Brazil
Edmund C. Baracat
- Department of Gynecology, Federal University of São Paulo, Escola Paulista de Medicina, Brazil
- Department of Gynecology and Obstetrics, University of São Paulo, Brazil

Received 12 November 2006; received in revised form 18 March 2007; accepted 22 April 2007. published online 18 May 2007.

Abstract

Objective

The aim of this study was to evaluate the presence of mutations in the coding region of the QM gene and fragile X in patients with premature ovarian failure and gonadal dysgenesis.

Methods

After approval by the local Ethics Committee, blood samples, in EDTA, of 100 normally ovulating women, 23 with premature ovarian failure (POF) and 14 with gonadal dysgenesis 46XX, aged less than 40 years, were screened for mutation in the QM gene coding region. All patients with POF have 46, XX karyotype and serum levels of follicle-stimulating hormone (FSH) over 30mIU/mL. In addition, all samples from patients with premature ovarian failure underwent analysis for fragile X.

Results

The QM gene located at a hotspot region (Xq28) showed five points of mutations in a patient with premature ovarian failure. Four of them were able to change the amino acid sequence of the protein. None of our patients were diagnosed as having pre or mutant X fragile syndrome.