ASSISTED REPRODUCTIVE TREATMENT APPLICATIONS IN MEN WITH NORMAL PHENOTYPE BUT 45,X/46,XY MOSAIC KARYOTYPE: CLINICAL AND GENETIC PERSPECTIVES
ASSISTED REPRODUCTIVE TREATMENT APPLICATIONS IN MEN WITH NORMAL PHENOTYPE BUT 45,X/46,XY MOSAIC KARYOTYPE: CLINICAL AND GENETIC PERSPECTIVES
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DOI：
10.1016/s1028-4559(10)60042-3
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发表时间：
2010-06-01
影响因子：
2.1
通讯作者：
Dogan, Muammer
中科院分区：
文献类型：
--
作者：
Kilic, Sevtap;Yukse, Beril;Dogan, Muammer
目的：45,X/46,XY 镶嵌核型由一系列生殖器表型表达，范围从正常男性到生殖器模糊和正常女性病例报告：我们介绍了三例无精症或严重少精症男性病例，以及 45,X/46,XY 镶嵌核型和两例 Y 染色体微缺失表型，它们表现正常阴茎、阴囊和第二性征正常的男性 对患者进行睾丸取精和抽吸，为夫妇做好辅助生殖治疗的准备 所有无精症或严重少精症的男性，即使其表型正常，也要进行核型和 Y 染色体微缺失评估 结论：应考虑在 45,X/46,XY 核型受试者中寻找精子和生物学亲子关系的可能性此外，应考虑镶嵌核型的睾丸肿瘤风险增加[Taiwan J Obstet Gynecol 2010;49(2) 199-202]
Objective: The 45,X/46,XY mosaic karyotype is expressed by a spectrum of genital phenotypes, ranging from normal males through to ambiguous genitalia and to normal femalesCase Reports: We present three cases of men with azoospermia or severe oligozoospermia, and a 45,X/46,XY mosaic karyotype and two with a Y-chromosome microdeletion Phenotypically, they appeared as normal males, with normal penis, scrotum and secondary sex characteristics Testicular sperm extraction and aspiration were applied to patients, and couples were prepared for assisted reproductive therapy All men with azoospermia or severe oligozoospermia were evaluated for karyotype and Y-chromosome microdeletion even if they had normal phenotypesConclusion: Possibilities for finding sperm and the biologic paternity in subjects with 45,X/46,XY karyotype should be considered Furthermore, the increased risk for testicular neoplasia with mosaic karyotypes should be taken into consideration [Taiwan J Obstet Gynecol 2010;49(2) 199-202]