title: Prevalence of chromosomal aberrations in Mexican women with primary amenorrhoea.
abstract: Primary amenorrhoea refers to the absence of menarche by the age of 16-18 years in the presence of secondary sexual characteristics, and occurs in 1-3% of women of reproductive age. To study the prevalence of chromosomal abnormalities and the different options available for clinical management of women in Mexico with primary amenorrhoea, a cross-sectional study was conducted in 187 women with primary amenorrhoea referred from Department of Reproductive Medicine of Morones Prieto Hospital, IMSS in Monterrey, Mexico during 1995-2003. Peripheral blood lymphocytes were cultured for chromosomal studies by the standard methods. Numerical or structural abnormalities of the sex chromosome were found in 78 women (41.71%). These women were classified into four categories: X-chromosome aneuploidies (22.99%: 12.83% pure line and 10.16% mosaicism association with a 45, X cell line); presence of chromosome Y (10.70%); structural anomalies of the X chromosome (4.28%); and marker chromosomes (3.74%). In conclusion, the prevalence of chromosomal abnormalities in Mexican women with primary amenorrhoea is within the range (24-46%) reported in world literature. Chromosomal analysis is absolutely necessary for appropriate clinical management of these patients.
authors.affiliation: División de Genética, Centro de Investigación Biomédica del Noreste (CIBIN), Instituto Mexicano del Seguro Social (IMSS), Col. Independencia, Monterrey, Nuevo León, Mexico. elvacortes@cibinmty.net
authors.forename: Elva I
authors.initials: EI
authors.lastname: Cortés-Gutiérrez
authors.forename: Martha I
authors.initials: MI
authors.lastname: Dávila-Rodríguez
authors.forename: Javier
authors.initials: J
authors.lastname: Vargas-Villarreal
authors.forename: Ricardo M
authors.initials: RM
authors.lastname: Cerda-Flores
mesh_terms: D000568:Amenorrhea / Q000453:epidemiology / Q000235:genetics*; D002869:Chromosome Aberrations; D003430:Cross-Sectional Studies; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007621:Karyotyping; D008800:Mexico; D015995:Prevalence