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Updated: Sep 2, 2025

Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
Cytogenetic Studies in Primary Amenorrhoea Cases
Elham Ghadirkhomi1, Akram Ghdirkhomi2, Seyed Abdolhamid Angaji3
1Clinical Research Development Unit of Tabriz Valiasr Hospital, Tabriz University of Medical, Sciences, Tabriz, Iran.
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.
Study 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:
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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