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Published on: February 10, 2023
Klinefelter's syndrome with unilateral absence of vas deferens
Numan Baydilli1, Ahmet Gökçe1, Sevda Yesim Karabulut2
1Department of Urology, Erciyes University Medical Faculty, Kayseri, Turkey.
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.
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