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Cytogenetic studies in primary amenorrhoea cases
oleh: Elham Ghadirkhomi, Akram Ghdirkhomi, Seyed Abdolhamid Angaji
Format: | Article |
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Diterbitkan: | Wolters Kluwer Medknow Publications 2022-01-01 |
Deskripsi
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.