Klinefelter's syndrome with unilateral absence of vas deferens

• Published in: Fertility and sterility Vol. 94; no. 4; pp. 1529.e1 - 1529.e2
• Main Authors: Baydilli, Numan, M.D, Gökçe, Ahmet, M.D, Karabulut, Sevda Yesim, M.D, Ekmekcioglu, Oguz, M.D
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01-09-2010
• Subjects: Adult; agenesia; cystic fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; Humans; Infertility, Male - diagnosis; Infertility, Male - etiology; Infertility, Male - genetics; Internal Medicine; Klinefelter Syndrome - complications; Klinefelter Syndrome - diagnosis; Klinefelter Syndrome - genetics; Klinefelter's syndrome; Male; Obstetrics and Gynecology; Urogenital Abnormalities - complications; Urogenital Abnormalities - diagnosis; Urogenital Abnormalities - genetics; vas deferens; Vas Deferens - abnormalities; Klinefelter's syndrome; vas deferens; cystic fibrosis; agenesia
• ISSN: 0015-0282; 1556-5653
• DOI: 10.1016/j.fertnstert.2010.02.017

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.