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.