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.