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114例男性Kallmann综合征文献复习

Diagnosis and treatment of male Kallman Syndrome in 114 cases
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摘要 Kallmann综合征(Kallman syndrome,KS)又称低促性腺激素性腺功能减退伴嗅觉障碍综合征,1856年由西班牙解剖学家Maestre报告嗅觉缺失和小睾丸病例。1944年因Kallmann报道3例家族性男子性腺功能减退合并嗅觉丧失或减退而得名[1]。
出处 《武警后勤学院学报(医学版)》 CAS 2013年第5期453-454,共2页 Journal of Logistics University of PAP(Medical Sciences)
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参考文献12

  • 1Klingmuller D, Dewes W, Krahe T, et al. Magnetic resonance inaging of the brain in pat ients with anosmia and hypotha- lamic hypogonadism (Kallmann's syndrome)[J]. J Clin Endo- crinol Metab, 1987, 65(3):581-584.
  • 2鄢春风,杨国庆,母义明,窦京涛.男性Kallmann综合征25例[J].武警医学,2007,18(10):774-776. 被引量:1
  • 3邓春华,梅骅,苗永青.Kallmann 综合征四例报告[J].中华泌尿外科杂志,1997,18(5):298-300. 被引量:13
  • 4Ballabio A, Andria G. Deletions and tran slocations involving the distal short arm of the human X chromosome. Review and hypotheses[J]. Hum Mol Genet, 1992, 1(4):221-227.
  • 5Dod C, Levilliers J, Dupont JM, eta/. Loss-of-function muta- tions in FGFR 1 cause autosomal dominant Kallmann syn- drome[J]. Nat Genet, 2003, 33(4):463-465.
  • 6Falardeau J, Chung WC, Beenken A, et al. Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hor- mone in humans and mice[J]. J Clin Invest, 2008, 118(8): 2822-2831.
  • 7Kin HG, Kurth, I Lan F, et al. Mutations in CHD7, encoding a chromatin-remodeling protein,cause idiopathic hypogonad- otropic hypogonadism and Kallmann syndrome[J]. Am J Hum Genet, 2008, 83(4):511-519.
  • 8Cole LW, Sidis Y, Zhang C, et al. Mutations in prokineticin 2 and prok in eticin receptor 2 genes in human gonadotro- phin-releasing hormone deficiency. Molecular genetics and clinical speetrum[J]. J Clin Endocrinol Metab, 2008, 93(9): 3551-3559.
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  • 10Sizonenko PC. Delayed puberty and hypogonadism. In:Wass JAH, Shalet SM. eds. Oxford Textbook of Endocrinology and Diabetes[M]. New York:Oxford Univereity Press Inc, 2002. 1035-1046.

二级参考文献11

  • 1母义明,李江源,李永峰.特发性低促性腺激素性性腺功能减退症患者黄体生成素脉冲分泌分析[J].中华内科杂志,1995,34(9):587-590. 被引量:6
  • 2邓春华,梅骅,苗永青.Kallmann 综合征四例报告[J].中华泌尿外科杂志,1997,18(5):298-300. 被引量:13
  • 3Sominara SB, Hayes FJ, Crowley WF. Gonadotropin-releasing hormone difficiency in the human (idiopathic hypogonadoropichypogonadism and kallman's syndrom): Pathophysiological and genetic considerations [J].Endocrine Rev, 1998,19:521~529
  • 4Hayes FJ, Welt CK, Martin KA. Gonadotropin-releasing hormone difficiency:diffrential diagonosis and treatment [J]. Endocrinologist, 1999,9:36~44.
  • 5Roscnfield RL. Puberty and its disorders in girls. Endocrinol Mctab Clin N Am,1991,20:15
  • 6Lieblich JM, Rogol AD, White BJ et al . Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann syndrome) : clinical and laboratory studies in 23 cases. Am J Med,73:506
  • 7Rugarli EI, Ballabio A. Kallmann syndrome. From genetics to neurobiology.JAMA, 1993,270:2 713
  • 8Sizonenko PC. Delayed puberty and hypogonadism. In: WassJAH, Shalet SM. eds. Oxford Textbook of Endocrinology and Diabetes. New York: Oxford Univereity Press Inc,2002,1 035
  • 9Behre HM, Nieschlag E. Hormone and human Chorionic gonadotropin for Reco Mbinant human follicle - stimulating hypogonadotropic male. Fertil Steril, 1995,63:1 326
  • 10kliesch S, Behre HM, Nieschlag E. High efficacy of gonadotropin or pulsatile gonadotropin - releasing hormone treatment in hypogo-nadotropic hypogonadal men.Eur J Endoerinol 1994,131:347

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