Chromosomal and Hormonal Analysis of Women with Primary Amenorrhea in Iraq

Abstract

Primary amenorrhea is one of common gynecological diseases among adolescent girls in community which is characterized by absence of menstrual cycles and normal sexual characteristics. Chromosomal abnormalities and hormonal disturbance play a crucial role in developing this disease. However, due to social stigma, many people with sex-related abnormalities even in certain provincial regions of Iraq do not ask for medical help resulting in an unclear true incidence of sex abnormalities among amenorrhea patients. Thirty-four patients were referred to Genetic Consultation Clinic in the Medical city of Baghdad to determine the possible causes of primary amenorrhea. Ultrasound findings of the current study revealed that 5 (14.72%) patients had normal internal genital organs, 18 (52.94%) patients had hypoplastic uterus and ovaries, 4 (11.76%) patients had infantile uterus, 3 (8.82) patients suffered from rudimentary organs, and 4 (11.76%) patients had no visualized organs (absent). There was a substantial increase in the serum levels of hormones in the patients’ group (p-value <0.05) particularly follicle stimulating hormone (FSH) and luteinizing hormone (LH), when compared to the control group.
Results also revealed that 26 patients had normal karyotype, 4 patients had Turner syndrome (TS) (45, XO, mosaic 45, XO/ 46XX, 46,XX/isoXq , 46 XO, ring Xq), two cases had (46, XX/isoXq and 46 xx, t (15q; 11q)), one case had 46 xx, t (1p;13q), and one case had 46 xx, t (1p;13q). It can be said in the end that each of these clinical examinations was crucial for making a correct diagnosis of the patient's condition and for identifying the important causes of primary amenorrhea in female patients from Iraq.