Department of Medical Biology, Pamukkale University Faculty of Medicine, Denizli, Turkey.
Fertil Steril. 2011 Apr;95(5):1786.e1-3. doi: 10.1016/j.fertnstert.2010.11.034. Epub 2010 Dec 9.
To present a familial case of Swyer syndrome.
Case report.
Academic medical center.
PATIENT(S): Two sisters with a main complaint of primary amenorrhea and another case, their mother's maternal aunt with the same history of primary amenorrhea but married with no consanguinity and no children.
INTERVENTION(S): None.
MAIN OUTCOME MEASURE(S): The patients were studied from clinical, endocrinologic, and genetic perspectives.
RESULT(S): Chromosome analyses revealed a 46,XY male karyotype with no detectable mosaicism in both sisters and their mother's maternal aunt. Molecular studies of sex-determining region Y and molecular investigation undertaken for the two sisters revealed SRY negativity.
CONCLUSION(S): Gonadal dysgenesis can also be inherited as an X-linked disorder, and evidence exists from familial studies of perhaps autosomal inheritance.
介绍一例斯维综合征的家族病例。
病例报告。
学术医疗中心。
两名主要表现为原发性闭经的姐妹，以及另一名患者，她们的母亲的姨母，同样有原发性闭经的病史，但已婚，没有近亲结婚，也没有孩子。
无。
从临床、内分泌和遗传学角度对患者进行研究。
染色体分析显示，两名姐妹及其母亲的姨母均为 46,XY 男性核型，无明显嵌合体。对两名姐妹进行的性别决定区 Y 分子研究和分子调查显示 SRY 阴性。
性腺发育不全也可以作为 X 连锁疾病遗传，家族研究也提示可能为常染色体遗传。
