Three siblings with complete androgen insensitivity syndrome

T Kemp MBChB; MMed(Int Med); Cert Endocrinology; Metabolism(SA) Phys Senior Specialist Endocrinology Unit

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Three siblings with complete androgen insensitivity syndrome

机译：完全雄激素不敏感综合征的三个兄弟姐妹

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A 27-year old woman presented with primary amenorrhoea and infertility. On examination, she was found to have palpable inguinal gonads, normal female external genitalia, a blind-ending vagina with no cervix, almost complete absence of axillary and pubic hair, and good breast development. Further investigations confirmed the absence of internal female genitalia, the presence of a 46,XY karyotype and testosterone levels in the high normal male reference range. A diagnosis of complete androgen insensitivity syndrome was made, based on this clinical picture and laboratory findings. Two of her younger siblings were subsequently also diagnosed with this condition. She underwent an orchidectomy and is currently on female hormone replacement therapy. At the time of writing up this case study, her two younger sisters were still awaiting surgery.

机译：一位27岁的女性患有原发性闭经和不孕症。经检查，发现她有明显的腹股沟性腺，正常的女性外生殖器，无子宫颈的盲端阴道，几乎完全没有腋毛和阴毛，并且乳房发育良好。进一步的研究证实不存在内部女性生殖器，在正常男性高参考范围内存在46，XY核型和睾丸激素水平。基于此临床表现和实验室检查结果，诊断为完全雄激素不敏感综合征。随后，她的两个年轻兄弟姐妹也被诊断患有这种疾病。她接受了一次兰花切除术，目前正在接受女性荷尔蒙替代疗法。在撰写本案例研究时，她的两个妹妹仍在等待手术。

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《JEMDSA: Journal of Endocrinology, Metabolism and Diabetes of South Africa (JEMSDA) : The Official Journal of the Society of Endocrinology, Metabolism, and Diabetes of South Africa》 |2013年第3期|共5页
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T Kemp MBChB; MMed(Int Med); Cert Endocrinology; Metabolism(SA) Phys Senior Specialist Endocrinology Unit;
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中图分类内分泌腺疾病及代谢病;
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1. A hemizygous mutation in the androgen receptor gene causes different phenotypes of androgen insensitivity syndrome in two siblings by disrupting the nuclear translocation [J] . Liu Chunjie, Lyu Yongfen, Li Pin Molecular genetics and genomics: MGG . 2020,第5期

机译：通过中断核易位，雄激素受体基因中的腺苷突变在两个兄弟姐妹中导致雄激素内敏感综合征的不同表型
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. Features of the fetal gonad in androgen synthesis in the postpubertal testis are preserved in complete androgen insensitivity syndrome due to a novel genetic splice site donor variant in androgen receptor gene intron 1 [J] . Jarzabek Katarzyna, Koda Mariusz, Chrusciel Marcin, The Journal of Steroid Biochemistry and Molecular Biology . 2019,第期

机译：由于雄激素受体基因内含子1的新遗传措施部位供体变体，胎儿睾丸中雌雄同体睾丸中雄激素睾丸的合成中的特征在完全雄激素溶解综合征中保存
4. Clinical and Molecular Aspects of Androgen Insensitivity [C] . OlafHiort Hormone Resistance and Hypersensitivity : From Genetics to Clinical Management . 2013

机译：雄激素细胞内细胞的临床和分子方面
5. Difference in attitude concerning prenatal screening, diagnosis, and possible termination for Down syndrome: Comparing women with an affected sibling and women without an affected sibling. [D] . Noack, Ashley Marie. 2009

机译：关于唐氏综合症的产前筛查，诊断和可能终止的态度差异：比较有患兄弟姐妹的妇女和无患兄弟姐妹的妇女。
6. Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome. [O] . T R Brown, D B Lubahn, E M Wilson, 1988

机译：在一个患有完全雄激素不敏感性综合症的家庭中删除人类雄激素受体基因的类固醇结合结构域：该综合症进一步遗传异质性的证据。
7. Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome. [O] . Brown, T R, Lubahn, D B, Wilson, E M, 1988

机译：在一个患有完全雄激素不敏感性综合症的家庭中，删除人类雄激素受体基因的类固醇结合域：这种综合症进一步遗传异质性的证据。

Three siblings with complete androgen insensitivity syndrome

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