Klinefelter's syndrome with unilateral absence of vas deferens

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.)