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

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. (Fertil Steril (R) 2011; 96: e115-7. (C) 2011 by American Society for Reproductive Medicine.)