Publications

Introduction: Amenorrhea has been described as the cessation or absence of the menses. Two types described in the literature are primary and secondary amenorrhea (SA). Although there are known similarities in the causation for the two types of amenorrhea, the conditions warrant timed evaluation. Aims and objectives: To determine the cytogenetic abnormalities in women with amenorrhea who presented in a tertiary health care hospital, South India. Materials and methods: This was retrospective descriptive record study. Patients with amenorrhea who had presented themselves for karyotyping at St. John’s Medical College and Hospital were included in the study. The study included all patients during the past 1.5 years (January 1, 2020 to June 30, 2021). Results: A total of 54 patients presented to the Division of Human Genetics for cytogenetic analysis over a period of 2.5 years with history of amenorrhea. Out of the 54 patients, 11 patients had cytogenetical abnormalities and the others had a normal karyotype. And 9 (82%) patients presented with primary amenorrhea (PA) and 2 (18%) presented with SA out of the 11 who presented with amenorrhea. The mean age of the study subjects was 22 ± 6.7 years. Peripheral blood was the specimen that was analyzed in the 11 patients. About 36% of the patients had a history of being born of a consanguineous marriage out of the 11 patients. Conclusion: This study shows the possible cytogenetic abnormalities that are present in women in a case of amenorrhea. Although most women presenting with amenorrhea have a normal karyotype, its testing remains vital for genetic counseling. Key message: This article is one of the most recent studies that identified the various genetic mutations in women presenting with amenorrhea in an Indian population. Keywords: Amenorrhea, Chromosomal aberrations, Chromosomal anomalies, Genetic counseling. Journal of South Asian Federation of Obstetrics and Gynaecology (2024): 10.5005/jp-journals-10006-2347