Primary Amenorrhea in North Kerala: A Cytogenetic Study

Abstract

Background and Objectives: Primary amenorrhea (PA) is a major cause of female infertility. PA with the absence of secondary sexual characters is usually due to endocrine or chromosome abnormalities. The purpose of the present study is to estimate the frequency and type of chromosomal anomalies (CAs) in patients with PA, referred for karyotyping, mainly from the gynecology and endocrinology departments. Materials and Methods: In this cross-sectional study, the cytogenetic analysis was carried out in 53 patients with PA from North Kerala. Based on the standard protocol, peripheral blood lymphocyte culture was done. Chromosomal analysis was done with the help of an automated karyotyping system, after G-banding of chromosomes. In each case, 30 metaphase spreads were analyzed to detect CAs. When mosaicism was suspected, at least 50 metaphase spreads were examined. Results: Out of the 53 patients with PA studied, 67.92% (n = 36) showed normal female karyotype (46, XX). Abnormal karyotype was detected in 32.08% of cases (n = 17). CAs can be grouped into the following four types: (1) The most frequent anomaly was aneuploidy of X chromosome 64.7% (n = 11). (2) Structural anomalies of the X chromosome were detected in 11.76% (n = 2). (3) Mosaicism of X chromosome aneuploidy with a structural anomaly of the X chromosome was found in 11.76% (n = 2). (4) Male karyotype 46, XY was present in 11.76% (n = 2). Conclusion: This study emphasizes the importance of karyotyping in the diagnosis and management of patients with PA as it reveals the incidence of a significantly high number of cases of CAs.