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Kallmann氏综合征 被引量:2

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摘要 Kalmann氏综合征中山医科大学附一医院泌尿外科(广州510080)邓春华综述梅骅审校Kalmann氏综合征,即选择性促性腺功能低下型性腺机能减退症,是一种罕见的先天性遗传病,其临床特征是先天性性腺功能低下和嗅觉缺失。因此,也有人称之为嗅觉-性腺功...
作者 邓春华
出处 《男性学杂志》 CSCD 1997年第4期242-243,共2页
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  • 1郝丽君,崔英霞,王云华,商学军,黄宇烽.Kallmann综合征的诊断与鉴别诊断[J].中华男科学杂志,2005,11(10):765-766. 被引量:9
  • 2郝丽君,崔英霞.Kallmann综合征的研究进展[J].中华男科学杂志,2006,12(7):647-649. 被引量:7
  • 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
  • 4Chung WC, Moyle SS, Tsai PS. Fibroblast growth factor 8 signaling through fibroblast growth factor receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons. Endocrinology, 2008 , 149(10) : 4997-5003.
  • 5Trarbach EB, Abreu AP, Silveira LF. Nonsense mutations in FGF8 gene causing different degrees of human gonadotropinreleasing deficiency. J Clin Endocrinol Metab, 2010, 95 (7): 3491-3496.
  • 6Quinton R, Duke VM, Robertson A, et al. Idiopathic gonadotrophin deficiency: Genetic questions addressed through phenotypic characterization. Clin Endocrinol, 2001, 55(2): 163-174.
  • 7Massin N, Pecheux C, Eloit C, et al. X chromosome-linked Kallmann syndrome: Clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene. J Clin Endocrinol Metab, 2003, 88(5): 2003-2008.
  • 8Cole LW, Sidis Y, Zhang C, et al. Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: Molecular genetics and clinical spectrum. J Clin Endocrinol Metab, 2008, 93(9) : 3551-3559.
  • 9Pitteloud N, Quinton R, Pearce S, et al. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest, 2007, 117(2) : 457-463.
  • 10Abreu AP, Trarbach EB, de Castro N, et al. Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. J Clin Endocrinol Metab, 2008, 93 ( 10 ) : 4113-4118.

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