Klinefelter's syndrome with unilateral absence of vas deferens
| Autor: | Oguz Ekmekcioglu, Numan Baydilli, Ahmet Gökçe, Sevda Yesim Karabulut |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
Infertility
Adult Male medicine.medical_specialty Cystic fibrosis gene Offspring Cystic Fibrosis Transmembrane Conductance Regulator Physical examination Cystic fibrosis Klinefelter Syndrome Vas Deferens Medicine Humans Infertility Male Gynecology S syndrome medicine.diagnostic_test business.industry Vas deferens Obstetrics and Gynecology medicine.disease medicine.anatomical_structure Reproductive Medicine Urogenital Abnormalities Vasography business |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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