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病例29-2018:一名31岁的不育女性
Case 29-2018 — A 31-Year-Old Woman with Infertility


Christos Coutifaris ... 妇产科和儿科 • 2018.09.20

31不育女性本是男儿郎

 

张丹,王思雯

浙江大学医学院附属妇产科医院

 

人的性别究竟由何因素决定?身为女性,却欠缺女性特有的卵巢和孕育生命的子宫,这是什么原因?2018年9月20日在《新英格兰医学杂志》(NEJM)的麻省总医院病例栏目就刊登了这样一个病例。虽然该患者的诊疗过程非常顺利,但我们可以从中总结性发育异常疾病的诊治思路及对此类患者的全面评估方法。

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病历陈述


Caitlin Sacha医师(妇产科):一名31岁的不育女性被一家代孕机构转诊至本院生育中心,讨论通过捐卵者和代理孕母生孩子的可能性。

患者报告,当她16岁时,因原发性闭经接受了评估,被诊断为先天性无子宫和无卵巢。当她约12岁时,出现了与线性生长突增相关的肾上腺功能初现和乳房初发育。患者从未有月经不适(menstrual molimina)或头痛、视力问题、溢乳、血管舒缩症状或运动耐量降低。

患者还报告,当她10岁时,她的手臂骨折,还接受了扁桃体切除术。患者未服药,也无已知过敏。在本次评估前4个月,她已从北欧移居到新英格兰;她目前和她的丈夫住在郊区,并在办公室工作。她很少饮酒,每日吸3~5支香烟,未使用非法药物。患者母亲易于妊娠,并且在46岁时因子宫内膜异位症而接受了子宫切除术,而患者外祖父在70岁时死于心肌梗死。患者的父亲和两个姐妹都很健康;一个姐妹与患者异卵双生,并且月经规律。





作者信息

Christos Coutifaris, M.D., Ph.D., Aoife Kilcoyne, M.D., Adam S. Feldman, M.D., M.P.H., Mary E. Sabatini, M.D., Ph.D., and Esther Oliva, M.D.
From the Department of Obstetrics and Gynecology, Hospital of the University of Pennsylvania, and the Department of Obstetrics and Gynecology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (C.C.); and the Departments of Radiology (A.K.), Urology (A.S.F.), Obstetrics and Gynecology (M.E.S.), and Pathology (E.O.), Massachusetts General Hospital, and the Departments of Radiology (A.K.), Surgery (A.S.F.), Obstetrics and Gynecology (M.E.S.), and Pathology (E.O.), Harvard Medical School — both in Boston.

 

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