Cytogenetic analysis in women with primary and scondary amenorrhea in iran: retrospective study on 110 patients

Abstract

The absence of menstrual periods for one or more periods is called amenorrhea. Primary amenorrhea means the lack of its occurrence until the age of 16 years. Secondary amenorrhea refers to situations that a person has experienced menstruation periods in the past and then stops its occurrence. Amenorrhea is a symptom, not a disease that can cause due to disorders of hypothalamus and pituitary glands, disorders of sexual glands and deformities of the uterus and ovaries. Due to the clinical importance of reproductive in life and non-reproductive of women amenorrhea due to ovarian function, this study has been conducted in order to determine the prevalence and type of chromosomal abnormalities in women referred to the Cytogenetic Laboratory of Cellular and Molecular Research Center, in University of Medical Sciences of Qazvin. Karyotype analysis and its relationship with phenotype were performed on 110 Iranian female patients with primary and secondary amenorrhea. Metaphase chromosomes were prepared and analyzed by G-banding technique and were evaluated to examine the mosaicism of 100 cells of lymphocytes cells.

Karyotype of 91 women (82.72%) was normal and chromosomal abnormalities in 19 patients out of 110 patients (17.37%) were observed with primary and secondary amenorrhea. Primary amenorrhea was observed in 17 of these patients, two of whom also had a secondary amenorrhea. Monosomy chromosome X (6 Cases- 31.57%) and Monosomy chromosome Y (6 Cases- 31.57%) was the most common disorders observed in the women with primary amenorrhea. Monosomy mosaic and trisomy chromosome X were observed in 2 cases of women with secondary amenorrhea (21.81% of the whole statistical sample). The overall prevalence of chromosomal abnormalities was between 15.9 % and 63.3% among patients with primary amenorrhea, that our findings in chromosomal analysis of these women (19.76%) confirm it.

Keywords: cytogenetic, primary amenorrhea, secondary amenorrhea, chromosomal abnormalities