Conventional Cytogenetic Analysis of Females with Primary Amenorrhea

Abstract

Abstract

Background: Primary amenorrhea, characterized by the absence of menstrual periods in females of reproductive age, presents a multifaceted challenge in clinical practice. Cytogenetic analysis stands as a foundational pillar in unraveling the genetic landscape governing primary amenorrhea.

Objective: The study was designed to determine the chromosomal abnormalities of females with primary amenorrhea.

Materials and Methods: In the current cross-sectional study, two hundred patients with a history of primary amenorrhea were processed by the standard KAROTYPING technique. The study was carried out at the Molecular genetics/cytogenetic department, chughtai institute of pathology, Lahore, Pakistan for a period of one year from July-2020 – July-2021.

Result: In the present study, a total of 200 female patients were included. Among these 200 patients, 80 exhibited chromosomal abnormalities. Specifically, there were 50 (62.5%) cases with 46, XY, 10 (12.5) cases with 45, X, 10 (12.5) cases with iso, Xq, 7 (8.7%) cases with XY del, and 3 (3.7) cases with mosaic Turner syndrome. Notably, the predominant clinical features included the development of breast in 51% of cases, hirsutism in 61% of cases, and pubic hair development in 7% of cases. Ultrasound reports revealed that 19.3% of patients had a normal uterus, 51.4% had a small uterus, and 20.2% were devoid of a uterus, as indicated in Table 1, along with other hormonal values.

Conclusion: The present study provides a nuanced understanding of chromosomal abnormalities in females with primary amenorrhea. The identification of diverse anomalies, along with their associated clinical features and uterine morphology, contributes valuable information to the existing literature. The comparison with previous studies underscores both consistencies and novel findings, emphasizing the evolving landscape of knowledge in the field of reproductive genetics. Further research is warranted to explore the implications of these chromosomal variations for clinical management and genetic counseling in females with primary amenorrhea.