A Study of Chromosomal Abnormality Patterns in Patients with Primary Amenorrhea in a Tertiary Care Referral Hospital

Abstract

Introduction: Congenital absence of uterus, inability of the ovary to produce the eggs and any malformations of ovary, fallopian tube, uterus and adnexal tissue may lead to Primary Amenorrhea (PA). The genetic and chromosomal abnormalities are the main cause of PA. Endocrine causes like abnormal function of pituitary gland and hypothalamus also lead to PA. Other causes like stress, extreme physical activity and psychological causes or a combination of these causes may lead to delayed onset of menarche. Aim: To study the frequency and type of chromosomal abnormalities in PA patients. Materials and Methods: In the present descriptive study, subjects included patients referred with PA for chromosomal analysis to Sri Siddhartha Medical College Genetic Laboratory. Pedigrees with details were drawn and in-depth clinical evaluation and clinical information were obtained from all subjects. Results: Of the 77 females with amenorrhea, 65 (84.4%) had a normal karyotype (46, XX) while 12 (15.58%) had abnormal karyotype. The age group of the patients with PA ranged from 16-27 years. Mean age of PA was 21 years. In the present study, among 12 abnormal karyotyping patients 7 (58,3%) patients showed XY, sex reversal. This study also identified a X chromosome homogeneous monosomy, (Turner’s) 45 X in one (8.3%) case. Turner’s mosaic 45, X/46, XX in three cases (25%), and one case (8.3%) showed inversion 46, XX, inv (11), (P15q11). Conclusion: A significant number of patients had sex chromosomal abnormalities; thus, early cytogenetic investigation is prudent to guide further management. Genetic counselling should include the risk of premature menopause for patients with Turner’s syndrome and the use of hormonal replacement therapy, the risk of gonadal malignancy for patients with XY gonadal dysgenesis and the possibility of infertility in the future children of patients with mosaic Turner.