Klinefelter's syndrome with unilateral absence of vas deferens

被引：2

作者：

Baydilli, Numan ^{[1
]}

Gokce, Ahmet ^{[1
]}

Karabulut, Sevda Yesim ^{[2
]}

Ekmekcioglu, Oguz ^{[1
]}

机构：

[1] Erciyes Univ, Dept Urol, Fac Med, TR-38060 Kayseri, Turkey

[2] Erciyes Univ, Dept Med Genet, Fac Med, TR-38060 Kayseri, Turkey

来源：

FERTILITY AND STERILITY | 2010年 / 94卷 / 04期

关键词：

Klinefelter's syndrome; vas deferens; agenesia; cystic fibrosis; BILATERAL ABSENCE; CONGENITAL ABSENCE; INFERTILITY; MUTATIONS; GENE;

D O I：

10.1016/j.fertnstert.2010.02.017

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Objective: To report a case of Klinefelter's syndrome with unilateral absence of vas deferens. Design: Case report. Setting: Tertiary-care infertility clinic. Patient(s): A 28-year-old man with the complaint of infertility. Intervention(s): None. Main Outcome Measure(s): Physical examination, genetic and hormonal evaluation. Result(s): Both testicles were approximately 2 mm, and unilateral vas deferens was not palpable. Hormonal evaluation revealed hypergonadotropism, and genetic studies revealed a 47, XXY karyotype and delta F508 mutation of the cystic fibrosis gene. Conclusion(s): To our knowledge there are no previous reports of both conditions (Klinefelter's syndrome and unilateral absence of vas deferens) existing simultaneously. A detailed physical examination seems mandatory for patients seeking treatment for infertility, to determine any possible deleterious health-related condition(s) for both themselves and offspring. (Fertil Steril (R) 2010;94:1529.e1-e2. (C) 2010 by American Society for Reproductive Medicine.)

引用

页码：1529.e1 / 1529.e2

页数：2

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