Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute, ACECR, Tehran, Iran.
Fertil Steril. 2011 Aug;96(2):e115-7. doi: 10.1016/j.fertnstert.2011.05.074. Epub 2011 Jun 24.
To report a rare occurrence of 47,X,i(Xq),Y karyotype with hypogonadotropic hypogonadism in a man.
Case report.
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.
报告一例伴有促性腺激素低下型性腺功能减退症的罕见 47,X,i(Xq),Y 核型的男性病例。
病例报告。
不孕不育研究所。
一名 33 岁原发性不育男性。
临床评估、激素检测和 X 染色体失活评估。
体格检查、精液分析和细胞遗传学分析。
患者表现出典型的克氏综合征表型，但 FSH 和 LH 水平较低。溴脱氧尿苷-33258 吖啶橙 Hoechst 技术显示异染色质长臂染色微弱。
这是首例伴有促性腺激素低下型性腺功能减退症的 47,X,i(X)(q10),Y 克氏综合征核型变异的男性病例报告。
