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首页> 外文期刊>Nepal Journal of Obstetrics and Gynaecology >Turner’s Syndrome in Adulthood and Cytogenetics
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Turner’s Syndrome in Adulthood and Cytogenetics

机译:特纳综合症在成年和细胞遗传学上

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Aims: Turner’s syndrome is a chronic disease of chromosomal aberration. The purpose of the study was to find out the accurate identification of cell line, which is critical for cytogenetic studies, genetic counseling, phenotypic studies carried out with few reconstructive procedures to plan future sexual and reproductive life. Methods: This study design was a prospective hospital based clinical study. In this study, ninety six patients were studied with secondary sex characters with relevant ultrasonogram findings and hormonal assay who underwent karyotyping in Bangabandhu Sheikh Mujib Medical University, Dhaka for a study period of ten years from October 1997 to October 2007. Results: Among 96 patients, 62.5 % of the patients were from 15-18 years. Four girls who were less than 15 years came with Turner’s and testicular stigmata. Twenty women aged more than 26 years presented with coital problems. Around 72.9% had no secondary sexual character, 20.83% had normal female type of secondary sex character, and 6.25% had virilizing type of secondary sexual character. Karyotyping of the cases revealed 72.9% (n = 70) had 45XO pattern, which belong to the Turner's stigmata and correlated well with the hormone profile. Whereas, 20.83% (n = 20) had 46XX pattern and 6.25% (n = 6) had 46XY pattern with testicular feminization syndrome with inguinal testis. Conclusions: About 60% of cases were in the 15-18 years age group. Most of the patients presented with no secondary sexual characteristics. 45XO chromosomal pattern was the most common presenting in 72.9% cases. DOI: http://dx.doi.org/10.3126jog.v9i2.11744
机译:目的:特纳氏综合症是一种染色体畸变的慢性疾病。这项研究的目的是找出细胞系的准确识别方法,这对于进行细胞遗传学研究,遗传咨询,表型研究非常重要,而这些研究很少用重建程序来计划未来的性生活和生殖生活。方法:本研究设计是基于前瞻性医院的临床研究。在这项研究中,对1997年10月至2007年10月在孟加拉国Bangabandhu Sheikh Mujib医科大学进行了染色体核型分析的96例具有继发性特征并具有相关超声检查结果和激素测定的患者进行了研究。结果:96例患者中,有62.5%的患者来自15-18岁。不到15岁的四名女孩患有特纳氏和睾丸柱头。年龄在26岁以上的20名妇女出现了性生活问题。约有72.9%的人没有第二性征,有20.83%的女性具有正常的第二性征,而6.25%的人具有男性化的第二性征。病例的核型分析显示,有72.9%(n = 70)的人具有45XO模式,属于特纳的柱头,并且与激素谱密切相关。睾丸女性化综合征伴腹股沟睾丸的女性为20.XX%(n = 20)为46XX,而6.25%(n = 6)为46XY。结论:约60%的病例在15-18岁年龄段。大多数患者没有继发性特征。在72.9%的病例中,最常见的是45XO染色体模式。 DOI:http://dx.doi.org/10.3126jog.v9i2.11744

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