伴有促性腺激素低下型性腺功能减退症的 47,X,i(X)(q10),Y 克氏综合征变异型的发生。
Occurrence of 47,X,i(X)(q10),Y Klinefelter variant with hypogonadotropic hypogonadism.
机构信息
Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute, ACECR, Tehran, Iran.
出版信息
Fertil Steril. 2011 Aug;96(2):e115-7. doi: 10.1016/j.fertnstert.2011.05.074. Epub 2011 Jun 24.
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.
目的
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。
设计
病例报告。
地点
不孕不育研究所。
患者
一名 33 岁原发性不育男性。
干预措施
临床评估、激素检测和 X 染色体失活评估。
主要观察指标
体格检查、精液分析和细胞遗传学分析。
结果
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。
结论
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。
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