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Polycystic ovary syndrome woman with heterozygous androgen receptor gene mutation who gave birth to a child with androgen insensitivity syndrome

机译：杂合雄激素受体基因突变的多囊卵巢综合症妇女生下一名患有雄激素不敏感综合症的孩子

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Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women of reproductive age, and it is a multifactorial polygenic disorder with a broad spectrum of clinical manifestations. Although pathogenesis is still unclear, androgen receptor (AR) gene polymorphism may be one of the etiologic factors of PCOS. AR gene polymorphism has been also associated with other forms of androgen pattern diseases. We report a PCOS woman with heterozygous AR gene mutation who gave birth to a baby with andorgen insensitivity syndrome.

机译：多囊卵巢综合征（PCOS）是育龄妇女最常见的内分泌疾病之一，它是一种多因素多基因疾病，具有广泛的临床表现。尽管尚不清楚发病机理，但雄激素受体（AR）基因多态性可能是PCOS的病因之一。 AR基因多态性也与其他形式的雄激素模式疾病有关。我们报道了一名患有杂合性AR基因突变的PCOS妇女，该妇女生育了一名患有雄激素不敏感综合征的婴儿。

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期刊名称 Obstetrics Gynecology Science
作者
Hyoun Nam; Chung-Hoon Kim; Min-Young Cha; Jae-Min Kim; Byung-Moon Kang; Han-Wook Yoo;
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作者单位

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年(卷),期 2015(58),2
年度 2015
页码 179–182
总页数 4
原文格式 PDF
正文语种
中图分类妇产科学;
关键词
Androgen-insensitivity syndrome Androgen receptor gene polymorphism Polycystic ovary syndrome;

机译：雄激素不敏感综合征;雄激素受体基因多态性;多囊卵巢综合征;

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专利

1. Clinical, cytogenetic and molecular analysis of androgen insensitivity syndromes from south Indian cohort and detection and in-silico characterization of androgen receptor gene mutations [J] . Abilash V. G., Radha S., Marimuthu K. M., Clinica chimica acta: International journal of clinical chemistry and applied molecular biology . 2016,第Null期

机译：来自南印度队列的雄激素不敏感综合征的临床，细胞遗传学和分子分析，以及雄激素受体基因突变的检测和计算机表征
2. Mutations in the androgen receptor gene of seven Chinese patients with complete androgen insensitivity syndromes [J] . 陈光椿, 卢建, 徐晓春, 中国人民解放军军医大学学报：英文版 . 1997,第004期

机译：七种中国雄激素胚胎患者雄激素受体基因中的突变，完全雄激素不敏感综合征
3. Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs. [J] . Werner R, Schutt J, Hannema S, The Journal of Steroid Biochemistry and Molecular Biology . 2006,第1期

机译：雄激素不敏感综合症中的雄激素受体基因突变导致雄激素反应性启动子构建体激活减少的独特模式。
4. Association of Exon 10A and 10B inactivating mutation of follicle stimulating hormone receptor gene (FSHR) and Polycystic Ovarian Syndrome in Vellore cohort [C] . NishuSekar, Rucha Kulkarni, SharvariOzalkar International Conference on Science, Engineering the Technology . 2018

机译：外显子10A和10B脱膜刺激激素受体基因（FSHR）和卵巢卵巢综合征在Vellore Cohort中的突变结合
5. Validation of the obese Ossabaw miniature pig as a model of the obese polycystic ovary syndrome phenotype with concomitant metabolic syndrome: Exploration of polycystic ovary syndrome pathophysiology using in vivo and in vitro models [D] . Newell-Fugate, Anne Elizabeth 2012

机译：肥胖的Ossabaw小型猪作为肥胖多囊卵巢综合征表型伴有代谢综合征的模型的验证：利用体内和体外模型探索多囊卵巢综合征的病理生理学
6. Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome [O] . SONG WANG, HAIKUN XU, WEI AN, -1

机译：两个中国完全雄激素不敏感综合征家庭中雄激素受体基因的突变分析
7. Polycystic ovary syndrome woman with heterozygous androgen receptor gene mutation who gave birth to a child with androgen insensitivity syndrome [O] . Hyoun Nam, Chung-Hoon Kim, Min-Young Cha, 2015

机译：具有雄激素不敏感综合征的儿童生育的杂合性卵巢综合征妇女患有雄激素的卵巢受体基因突变

Polycystic ovary syndrome woman with heterozygous androgen receptor gene mutation who gave birth to a child with androgen insensitivity syndrome

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