Cytogenetic Studies in Primary Amenorrhoea Cases.

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.