女孩继发性闭经:家谱和细胞遗传学特征

N. Bagatska, V. E. Nefidova, S.V. Novohatska
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摘要

的目标。目的:探讨12-17岁继发性闭经女孩的家谱和细胞遗传学特征。方法。对25例继发性闭经女童(主组)和25例健康女童的家系进行了家系分析。在体外对实验组和对照组女生血液淋巴细胞进行细胞遗传学分析。对照组由25名月经周期正常、无躯体病理的健康同龄女孩组成。所得数据在Excel程序中使用Student’st检验进行统计分析。结果。在60.0%的家庭中发现了非炎症性(激素依赖性)妇科疾病的遗传负担,86.6%的病例是母系遗传,6.7%是父系遗传,6.7%是两系同时遗传;40.0%的女孩无遗传负担。三种血缘关系亲属中妇科(非炎性)疾病的总发病率为13.6%,几乎是健康女孩亲属发病率的3倍(5.1%,p < 0.001)。对主组女孩进行的细胞遗传学分析显示,染色体疾病的总体水平(6.2%)和个体类型(3.2%)均有所增加。3.0%(1.56%),与健康女孩相比。结论。在继发性闭经的女孩谱系中,妇科(非炎症性)疾病的家族积累已经建立。与健康女孩相比,患病女孩血液淋巴细胞的细胞遗传学特征被揭示出来。关键词:女孩,家系,细胞遗传学指标,继发性闭经。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Secondary amenorrhea in girls: genealogical and cytogenetic features
Aim. To determine genealogical and cytogenetic features in girls aged 12-17 years with secondary amenorrhea. Methods. The analysis of pedigrees was conducted in 25 families of girls with secondary amenorrhea (main group) and in 25 families of healthy girls in the laboratory of medical genetics of SI "ICAHC NAMS". Cytogenetic analysis was carried out in the blood lymphocytes of the girls of the main and control groups in vitro. The control group consisted of 25 healthy peer girls with a regular menstrual cycle without somatic pathology. The data obtained were analyzed statistically using the Student's t-test in Excel programs. Results. The hereditary burden on non-inflammatory (hormone-dependent) gynecological diseases was found in 60.0% of families, in 86.6% of cases – along the maternal line, in 6.7% – along the paternal line, in 6.7% – on both lines at the same time; 40.0% of girls had no hereditary burden. The total incidence of gynecological (non-inflammatory) diseases among relatives of three degrees of kinship was 13.6%, which was almost three times higher than the frequency in relatives of healthy girls (5.1%, p < 0.001). Cytogenetic analysis conducted in girls of the main group showed an increase in both the overall level of chromosomal disorders (6.2%), and their individual types (3.2%. 3.0%, 1.56%) compared to the frequency in healthy girls. Conclusions. Family accumulation of gynecological (non-inflammatory) diseases in the pedigree of girls with secondary amenorrhea has been established. Cytogenetic features in the blood lymphocytes of sick girls are revealed compared to healthy peers.  Keywords: girls, pedigrees, cytogenetic indices, secondary amenorrhea.
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