Cytogenetic studies in primary amenorrhoea cases

• Main Authors: Elham Ghadirkhomi (Author), Akram Ghdirkhomi (Author), Seyed Abdolhamid Angaji (Author)
• Format: Book
• Published: Wolters Kluwer Medknow Publications, 2022-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 0974-1208; 1998-4766; 10.4103/jhrs.jhrs_13_22
• Keywords: chromosomal abnormality; cytogenetic study; karyotyping; primary amenorrhoea; Gynecology and obstetrics; RG1-991
• Source: Journal of Human Reproductive Sciences, Vol 15, Iss 2, Pp 187-190 (2022)

Background: Amenorrhoea is considered a kind of menstrual disorder in a woman of reproductive age. It is a symptom with many potential causes such as an abnormality in the hypothalamic-pituitary-ovarian axis, anatomical abnormalities of the genital tract or functional causes. Aims: In this study, we aimed to investigate chromosomal abnormalities in patients presenting with primary amenorrhoea. Setting and Design: This study was conducted in the medical genetic laboratory. Materials and Methods: Chromosomal analysis was carried out in 134 cases that were referred to the human genetic laboratory from 2010 to 2017, employing (GTG) Giemsa banding. Statistical Analysis Used: Statistical analyses were carried out by Microsoft Office Excel (2019). Results: The karyotype results revealed 77.6% (n = 104) with normal chromosome composition while 22.38% (n = 30) showed chromosomal abnormalities. Among the patients with abnormal chromosome constituents, 53.54% exhibited numerical aberration and 46.66% showed structural abnormalities. Conclusion: The present study has emphasised that karyotyping is one of the fundamental investigations in the evaluation of primary amenorrhoea.