Journal of Human Reproductive Science
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ORIGINAL ARTICLE Table of Contents   
Year : 2022  |  Volume : 15  |  Issue : 2  |  Page : 187-190
Cytogenetic studies in primary amenorrhoea cases

1 Clinical Research Development Unit of Tabriz Valiasr Hospital, Tabriz University of Medical, Sciences, Tabriz, Iran
2 Food and Drug Administrator, University of Medical Sciences, Isfahan, Iran
3 Department of Cell and Molecular Biology, Faculty of Biological Sciences, Kharazmi University, Tehran, Iran

Correspondence Address:
Elham Ghadirkhomi
Clinical Research Development Unit of Tabriz Valiasr Hospital, Tabriz University of Medical, Sciences, Tabriz
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jhrs.jhrs_13_22

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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.

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