Fertility and sterility · 2010
Klinefelter's syndrome with unilateral absence of vas deferens.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Baydilli Numan, Gökçe Ahmet, Karabulut Sevda Yesim, Ekmekcioglu Oguz
Аннотация
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.
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.