48．XXYYKlinefelter综合征一例
被引量：1
Experience of the diagnosis and treatment of a patient with 48, XXYY Klinefelter syndrome
摘要
Klinefelter综合征又称先天性生精小管发育不全，由染色体核型异常引起。该病最常见的染色体核型异常为47，XXY，约占全部患者的80％；其他的20％则表现一定的差异，主要是有附加的x或Y.
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2016年第8期700-701,共2页
Chinese Journal of Endocrinology and Metabolism
参考文献11
-
1S?rensenK,NielsenJ,JacobsenP,et al.The 48,XXYY syndrome[J].J Ment Defic Res,1978,22(3):197-205.
-
2IkegamiM,HashimotoK,OnishiN,et al.A case of 48 XXYY Klinefelter′s syndrome[J].Nihon Hinyokika Gakkai Zasshi,1994,85(12):1781-1783.
-
3HanleyAP,BlumenthalJD,LeeNR,et al.Brain and behavior in 48,XXYY syndrome[J].Neuroimage Clin,2015,8:133-139.
-
4StellatoRK,FeldmanHA,HamdyO,et al.Testosterone,sex hormone-binding globulin,and the development of type 2 diabetes in middle-aged men:prospective results from the Massachusetts male aging study[J].Diabetes Care,2000,23(4):490-494.
-
5GrossmannM,ThomasMC,PanagiotopoulosS,et al.Low testosterone levels are common and associated with insulin resistance in men with diabetes[J].J Clin Endocrinol Metab,2008,93(5):1834-1840.
-
6ShanmugamVK,TsagarisKC,AttingerCE.Leg ulcers associated with Klinefelter′s syndrome:a case report and review of the literature[J].Int Wound J,2012,9(1):104-107.
-
7FrühmesserA,KotzotD.Chromosomal variants in klinefelter syndrome[J].Sex Dev,2011,5(3):109-123.
-
8KatsushimaY,KatsushimaF,KatsushimaN.Extreme tall stature in a Japanese boy with a 48,XXYY karyotype[J].Clin Pediatr Endocrinol,2008,17(2):27-30.
-
9BojesenA,JuulS,BirkebaekNH,et al.Morbidity in Klinefelter syndrome:a Danish register study based on hospital discharge diagnoses[J].J Clin Endocrinol Metab,2006,91(4):1254-1260.
-
10TartagliaN,DavisS,HenchA,et al.A new look at XXYY syndrome:medical and psychological features[J].Am J Med Genet A,2008,146A(12):1509-1522.
-
1黄永汉,邓天勤,林蔚,张海滨.Klinefelter综合征(48,XXYY)1例报告[J].中华男科学杂志,2009,15(6):565-566. 被引量：2
-
2刘珍,梁品容,李萍,黄曙方,余细勇.广州地区Klinefelter综合征的临床与细胞遗传学分析[J].中国优生与遗传杂志,2007,15(8):45-45. 被引量：5
-
3刘坤杰,刘敏,母义明,李江源,窦京涛,陆菊明,潘长玉.Klinefelter综合征24例临床特点[J].河北医药,2009,31(1):41-42. 被引量：2
-
4张丽婷,邵迎红,李明,陆菊明.Kilinefelter综合征(48,XXYY)合并胰岛素抵抗一例[J].临床内科杂志,2003,20(5):256-256.
-
5刘丽丽,何丹娜,许蓬,盛晴,王娜.染色体核型异常48,XXYY一例[J].中国优生与遗传杂志,2015,23(10):67-67. 被引量：1
-
6田佩玲,陈平乐,杨卫.48,XXYY一例[J].中华医学遗传学杂志,2002,19(4):328-328. 被引量：3
-
7潘清蓉,茅江峰,范慧,姚志,徐援.48,XXYY综合征合并糖尿病1例的X染色体来源和失活偏移分析[J].基础医学与临床,2013,33(7):814-818. 被引量：1
-
8邓天勤,黄永汉,林蔚,张海滨.Klinefelter综合征（48，XXYY）1例报告及文献复习[J].国际医药卫生导报,2009,15(10):60-62.
-
9张宝珍,朱忠勇,魏蓉棠.一例罕见的46,XY/92,XXYY成年病例[J].遗传,1989,11(6):30-31.
-
10焦阳,李小英.Klinefelter综合征的诊疗现状及进展[J].中华内分泌代谢杂志,2013,29(3). 被引量：5
