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.
Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.