Frequency and types of chromosomal abnormalities in Turkish women with amenorrhea

Abstract

Study objective: To estimate the frequency and the type of chromosomal abnormalities (CA) in patients with primary (PA) and secondary amenorrhea (SA).

Design: This retrospective study was comprised of patients had been referred to our laboratory between 1990 to 2008 and designed as original article.

Setting: Medical Faculty of Cukurova University in Turkey.

Participants: Chromosomal analysis was carried out on 393 patients with PA and SA that were referred to Cytogenetic laboratory of Medical Biology and Genetic Department, Faculty of Medicine, Çukurova University.

Interventions: Lymphocyte culturing depended karyotyping.

Main outcome measures: Standard lymphocyte culturing procedure and karyotyping was performed to all samples.

Results: PA and SA were identified in 393 patients. The karyotype was normal in 337 cases (85.8%) and abnormal in 56 (14.2%) patients. CAs were found in 54 (13.7%) and 2 (0.5%) of women with PA and SA, respectively. Females carrying rearrangements between autosomal and sex chromosomes were detected in 2% (8/393). The numerical abnormalities of the X chromosome were detected in 39.3% (22/56) (monosomy and mosaic). Structural abnormalities of the X and the other chromosomes were detected in 25.5% (13 of 56). Structural mosaicism of X chromosome was found in 5.4% (3 of 56). Male karyotype (46, XY) was found in 33.9% (19/56). The most frequently detected abnormality were X chromosome monosomies or mosaics.

Conclusions: Our study revealed that some causes of amenorrhea could be due to CAs. Therefore, cytogenetic study should be important test in the evaluation of patients with PA or SA. The most common abnormality seen is 45,X karyotype (monosomy X/Turner Syndrome) and its variants.

Keywords: Chromosomal abnormalities; Karyotyping; Primary and secondary amenorrhea.