Occurrence of 47,X,i(X)(q10),Y Klinefelter variant with hypogonadotropic hypogonadism  

Oleh:

Sabbaghian, Marjan ; Meybodi, Anahita Mohseni ; Rahimian, Mouness ; Gilani, Mohammad Ali Sadighi

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 96 no. 02 (Aug. 2011), page e115-e117.
Topik: Infertility; isochromosome; Klinefelter syndrome; hypogonadotropic hypogonadism

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2011.04 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Objective To report a rare occurrence of 47,X,i(Xq),Y karyotype with hypogonadotropic hypogonadism in a man. Design Case report. Setting Infertility institute. Patient(s) Thirty-three-year-old man with primary infertility. Intervention(s) Clinical evaluation, hormone assays, and assessment of X inactivation. Main Outcome Measure(s) Physical examination, semen analysis, and cytogenetic analysis. Result(s) The patient showed the classic phenotype of Klinefelter syndrome but with low levels of FSH and LH. The bromodeoxyuridine-33258 Hoechst technique showed faint staining of the long arm of the isochromosome. Conclusion(s) This is the first report of co-occurrence of hypogonadotropic hypogonadism with the 47,X,i(X)(q10),Y Klinefelter karyotype variant in a man.

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