Klinefelter's syndrome with unilateral absence of vas deferens

Abstract

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.