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PIT-1及PROP-1与联合垂体激素缺乏症 被引量：2

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摘要 垂体前叶特异性转录因子(PIT)-1及其祖先蛋白(PROP)-1异常可致联合垂体激素缺乏症(CPHD)。其中PIT-1与胚胎期垂体前叶的发育和促甲状腺激素(TSH)、催乳素(PRL)及生长激素(GH)基因的表达有关,其基因突变者典型表现为血TSH、PRL、GH完全缺乏,MRI示垂体萎缩。而PROP-1也是一种垂体特异转录因子,启动胚胎期PIT-1基因的起始表达及维持个体出生后的持续表达,并可直接促使PIT-1细胞系的前体分化为促性腺细胞系,其基因突变患者除GH、PRL、TSH缺乏外,尚有促黄体激素、促卵泡激素或促肾上腺皮质激素缺乏。
作者 朱娜 宁光
机构地区 上海第二医科大学附属瑞金医院内分泌科
出处 《国外医学（内分泌学分册）》 2004年第2期122-124,共3页 Foreign Medical Sciences(Section of Endocrinology)
关键词 垂体前叶特异性转录因子-1 联合垂体激素缺乏症 PROP-1 基因突变 转录因子
分类号 R584 [医药卫生—内分泌]
  • 相关文献

参考文献14

  • 1Flück C,Deladoey J,Rutishauser K,et al.Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C).J Clin Endocrinol Metab,1998,83:3727-3734.
  • 2Vieira TC,Dias da Silva MR,Cerutti JM,et al.Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of prophet of Pit-1 presenting as constitutional growth delay.J Clin Endocrinol Metab,2003,88:38-44.
  • 3Vallette-Kasic S,Barlier A,Teinturier C,et al.PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.J Clin Endocrinol Metab,2001,86:4529-4535.
  • 4Hendriks-Stegeman BI,Augustijn KD,Bakker B,et al.Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene.J Clin Endocrinol Metab,2001,86:1545-1550.
  • 5Pernasetti F,Toledo SP,Vasilyev VV,et al.Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion(301-302delAG) in the prophet of Pit-1 gene.J Clin Endocrinol Metab,2000,85:390-397.
  • 6Deladoy J,Fluck C,Buyukgebiz A,et al. ""Hot spot"" in the PROP1 gene responsible for combined pituitary hormone deficiency.J Clin Endocrinol Metab,1999,84:1645-1650.
  • 7Cogan JD,Wu W,Phillips JA 3rd,et al.The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.J Clin Endocrinol Metab,1998,83:3346-3349.
  • 8Wu W,Cogan JD,Pfaffle RW,et al.Mutations in PROP1 cause familial combined pituitary hormone deficiency.Nat Genet,1998,18:147-149.
  • 9Agarwal G,Bhatia V,Cook S,et al.Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.J Clin Endocrinol Metab,2000,85:4556-4561.
  • 10Osorio MG,Kopp P,Marui S,et al.Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1.J Clin Endocrinol Metab,2000,85:2779-2785.

同被引文献51

  • 1高岩.垂体特异性转录因子研究进展[J].国外医学（内分泌学分册）,1995,15(3):116-120. 被引量：11
  • 2俞钟明,楼大钧,斯徐伟,朱麒钱,官莉莉,金华伟,俞利红.垂体功能减退危象12例临床分析[J].浙江医学,2006,28(8):647-648. 被引量：3
  • 3Chung H O, Kato T, Tomizawa K, Kato Y. Molecular cloning of pit-1 cDNA from porcine anterior pituitary and its involvement in pituitary stimulation by growth hormone-releasing factor. Experimental and Clinical Endocrinology & Diabetes, 1998, 106(3): 203-210.
  • 4Hurley D L,Wojtkiewicz P W, Phelps C J. Growth hormone and Pit-1 mRNA detection using reverse transcription-polymerase chain reaction in adult and developing Ames dwarf mice. Recent Progress in Hormone Research, 1995, 50: 443-448.
  • 5Janson J O, Eden S, lsaksson O. Several dimorphison in the control of growth hormone secretion. Endocrine Reviews, 1985, 6:128-150.
  • 6Abrona J R, Marple Sartin J L. Secretory growth hormone in D N, Russell R W, Rahe C H, Mulvaney D R, patterns and metabolic clearance rate of porcine swine selected for growth. Journal of Animal Science, 1988, 66: 3068-3072.
  • 7Soren. Investigation of polymorphisms at gene in the growth hormone axis in cattle and pigs. Proceedings of 4th World Congress on Genetics Applied to Livestock Production XII. Edinburgh: Edinburgh University Press, 1990: 151-154.
  • 8Yu T E Rothschild M E Tuggle C K. Rapid communication: a MspI restriction fragment length polymorphism at the swine PIT-1 locus. Journal of Animal Science, 1993, 71: 2275.
  • 9Brunsch C, Sternstein I, Reinecke P and Bieniek J. Analysis of associations of PIT1 genotypes with growth, meat quality and carcass composition traits in pigs. Journal of Applied Genetics, 2002, 43(1): 85 -91.
  • 10Stancekova K, Vasicek D, Peskovicova D, BuUa J, Kubek A. Effect of genetic variability of the porcine pituitary-specific transcription factor (PIT-I) on carcas traits in pigs. Animal Genetics, 1999, 30: 313-315.

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国外医学（内分泌学分册）
2004年 第2期

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