原发性闭经病例的细胞遗传学研究
Cytogenetic Studies in Primary Amenorrhoea Cases.
作者信息
Ghadirkhomi Elham, Ghdirkhomi Akram, Angaji Seyed Abdolhamid
机构信息
Clinical Research Development Unit of Tabriz Valiasr Hospital, Tabriz University of Medical, Sciences, Tabriz, Iran.
Food and Drug Administrator, University of Medical Sciences, Isfahan, Iran.
出版信息
J Hum Reprod Sci. 2022 Apr-Jun;15(2):187-190. doi: 10.4103/jhrs.jhrs_13_22. Epub 2022 Jun 30.
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% ( = 104) with normal chromosome composition while 22.38% ( = 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.
背景
闭经被认为是育龄期女性的一种月经紊乱。它是一种有多种潜在病因的症状，如下丘脑 - 垂体 - 卵巢轴异常、生殖道解剖结构异常或功能性病因。
目的
在本研究中，我们旨在调查原发性闭经患者的染色体异常情况。
研究背景与设计
本研究在医学遗传实验室进行。
材料与方法
对2010年至2017年转诊至人类遗传实验室的134例患者进行染色体分析，采用（GTG）吉姆萨染色法。
统计分析
采用微软办公软件Excel（2019）进行统计分析。
结果
核型分析结果显示，77.6%（n = 104）染色体组成正常，而22.38%（n = 30）显示染色体异常。在染色体组成异常的患者中，53.54%表现为数目畸变，46.66%表现为结构异常。
结论
本研究强调核型分析是评估原发性闭经的基本检查之一。
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