A Study of Cytogenetic Pattern in Amenorrhea

Abstract

Introduction: Menstruation is an important physiological function of female reproductive system during reproductive age. Prevalence of amenorrhea is higher in Indian population with a potential social impact. The study of cytogenetic pattern in its correlation with other physiological factors will help for better understanding the cause and earlier diagnosis. Aim: To find out cytogenetic pattern among amenorrhea patients and to correlate with the phenotype and clinical findings among these cases. Materials and Methods: This study was performed on 200 women volunteers after taking an informed consent. Out of 200 cases 100 cases were grouped as controls and 100 cases as study group. Cytogenetic study was done by conventional karyotyping and other clinical investigations (hormonal assay, fasting blood glucose) were also carried out. Results: In the present study the frequency of classic Turner’s (25%) and mosaic Turner’s (12.5%) among primary amenorrhea cases. All Secondary amenorrhea cases were with normal chromosomal complement that is 0% frequency of chromosomal aberrations. One case with polycystic ovarian disease exhibited Premature Chromatid Separation (PCS). Conclusion: Identification of known genetic causes could aid in development of effective treatments for women with amenorrhea, as well as earlier diagnosis which may allow for family planning before the onset of amenorrhea

Keywords

• : imperforate hymen
• mullerian dysgenesis
• premature chromatid separation
• turner’s syndrome
• x-chromosome