Klinefelter's syndrome with unilateral absence of vas deferens  

Oleh:

Baydilli, Numan ; Gokce, Ahmet ; Karabulut, Sevda Yesim

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 94 no. 04 (Sep. 2010), page 1529.
Topik: Klinefelter's syndrome; vas deferens; agenesia; cystic fibrosis

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2010.05 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

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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