메뉴 건너뛰기




Volumn 53, Issue SUPPL. 3, 2000, Pages 1-8

Idiopathic growth hormone deficiency: A vanishing diagnosis?

Author keywords

Combined growth hormone deficiency; Growth hormone; Growth hormone releasing hormone; HesX1; Isolated growth hormone deficiency; P Lim; Pit 1; Prop 1

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE RELEASING FACTOR; GROWTH HORMONE RELEASING FACTOR RECEPTOR; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PIT 1;

EID: 17544388568     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000023524     Document Type: Conference Paper
Times cited : (11)

References (53)
  • 1
    • 0015980941 scopus 로고
    • Causes of short stature. A community study of children in Newcastle upon Tyne
    • Lacey KA, Parkin JM: Causes of short stature. A community study of children in Newcastle upon Tyne. Lancet 1974;i:42-45.
    • (1974) Lancet , vol.1 , pp. 42-45
    • Lacey, K.A.1    Parkin, J.M.2
  • 3
    • 0002286880 scopus 로고
    • Inherited defects in growth hormone synthesis and action
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds): New York, McGraw-Hill
    • Phillips JA: Inherited defects in growth hormone synthesis and action: in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease. New York, McGraw-Hill, 1995, vol 3, pp 3023-3044.
    • (1995) The Metabolic Basis of Inherited Disease , vol.3 , pp. 3023-3044
    • Phillips, J.A.1
  • 4
    • 0026346334 scopus 로고
    • An overview of the diagnoses in the Kabi Pharmacia International Growth Study
    • Wilton P, Wallstrom A: An overview of the diagnoses in the Kabi Pharmacia International Growth Study. Acta Pediatr Scand Suppl 1991;379:93-98.
    • (1991) Acta Pediatr Scand Suppl , vol.379 , pp. 93-98
    • Wilton, P.1    Wallstrom, A.2
  • 5
    • 0031682082 scopus 로고    scopus 로고
    • The molecular genetics of growth hormone deficiency
    • Procter AM, Phillips JA 3rd, Cooper DN: The molecular genetics of growth hormone deficiency. Hum Genet 1998;103:255-272.
    • (1998) Hum Genet , vol.103 , pp. 255-272
    • Procter, A.M.1    Phillips J.A. III2    Cooper, D.N.3
  • 7
    • 0020043120 scopus 로고
    • Analysis of growth hormone genes in mice with genetic defects of growth hormone expression
    • Phillips JAD, Beamer WG, Bartke A: Analysis of growth hormone genes in mice with genetic defects of growth hormone expression. J Endocrinol 1982;92:405-407.
    • (1982) J Endocrinol , vol.92 , pp. 405-407
    • Phillips, J.A.D.1    Beamer, W.G.2    Bartke, A.3
  • 8
    • 0026778865 scopus 로고
    • Isolated growth hormone (GH) deficiency type IA associated with a 45-kilobase gene deletion within the human GH genet cluster
    • Akinci A, Kanaka C, Eble A, Akar N, Vidinlisan S, Mullis PE: Isolated growth hormone (GH) deficiency type IA associated with a 45-kilobase gene deletion within the human GH genet cluster. J Clin Endocrinol Metab 1992;75: 437-441.
    • (1992) J Clin Endocrinol Metab , vol.75 , pp. 437-441
    • Akinci, A.1    Kanaka, C.2    Eble, A.3    Akar, N.4    Vidinlisan, S.5    Mullis, P.E.6
  • 10
    • 0031890209 scopus 로고    scopus 로고
    • Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency
    • Wagner JK, Eble A, Hindmarsh PC, Mullis PE: Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency. Pediatr Res 1998;43:105-110.
    • (1998) Pediatr Res , vol.43 , pp. 105-110
    • Wagner, J.K.1    Eble, A.2    Hindmarsh, P.C.3    Mullis, P.E.4
  • 11
    • 0014897731 scopus 로고
    • Growth hormone antibodies in patients treated with different preparations of human growth hormone (HGH)
    • Illig R: Growth hormone antibodies in patients treated with different preparations of human growth hormone (HGH). J Clin Endocrinol Metab 1970;31:679-688.
    • (1970) J Clin Endocrinol Metab , vol.31 , pp. 679-688
    • Illig, R.1
  • 12
    • 0022399215 scopus 로고
    • Human growth hormone gene deletion without antibody formation or growth arrest during treatment - A new disease entity?
    • Laron Z, Kelijman M, Pertzelan A, Keret R, Shoffner JM, Parks JS: Human growth hormone gene deletion without antibody formation or growth arrest during treatment - A new disease entity? Isr J Med Sci 1985;21:999-1006.
    • (1985) Isr J Med Sci , vol.21 , pp. 999-1006
    • Laron, Z.1    Kelijman, M.2    Pertzelan, A.3    Keret, R.4    Shoffner, J.M.5    Parks, J.S.6
  • 13
    • 0024417643 scopus 로고
    • Discordant immune and growth response to pituitary and biosynthetic growth hormone in siblings with isolated growth hormone deficiency type IA
    • Hauffa BP, Illig R, Torresani T, Stolecke H, Phillips JAD: Discordant immune and growth response to pituitary and biosynthetic growth hormone in siblings with isolated growth hormone deficiency type IA. Acta Endocrinol (Copenh) 1989;121:609-614.
    • (1989) Acta Endocrinol (Copenh) , vol.121 , pp. 609-614
    • Hauffa, B.P.1    Illig, R.2    Torresani, T.3    Stolecke, H.4    Phillips, J.A.D.5
  • 14
    • 0027284128 scopus 로고
    • A new mutation causing inherited growth hormone deficiency: A compound heterozygote of a 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene
    • Igarashi Y, Ogawa M, Kamijo T, Iwatani N, Nishi Y, Kohno H, Masumura T, Koga J: A new mutation causing inherited growth hormone deficiency: A compound heterozygote of a 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene. Hum Mol Genet 1993;2:1073-1074.
    • (1993) Hum Mol Genet , vol.2 , pp. 1073-1074
    • Igarashi, Y.1    Ogawa, M.2    Kamijo, T.3    Iwatani, N.4    Nishi, Y.5    Kohno, H.6    Masumura, T.7    Koga, J.8
  • 15
    • 0028955078 scopus 로고
    • Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis
    • Binder G, Ranke MB: Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis. J Clin Endocrinol Metab 1995;80:1247-1252.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 1247-1252
    • Binder, G.1    Ranke, M.B.2
  • 17
    • 0029839542 scopus 로고    scopus 로고
    • Mechanisms responsible for dominant expression of human growth hormone gene mutations
    • Binder G, Brown M, Parks JS: Mechanisms responsible for dominant expression of human growth hormone gene mutations. J Clin Endocrinol Metab 1996;81:4047-4050.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 4047-4050
    • Binder, G.1    Brown, M.2    Parks, J.S.3
  • 19
    • 0025159146 scopus 로고
    • Isolated growth hormone deficiency: Analysis of the growth hormone (GH)-releasing hormone gene and the GH gene cluster
    • Mullis P, Patel M, Brickell PM, Brook CG: Isolated growth hormone deficiency: Analysis of the growth hormone (GH)-releasing hormone gene and the GH gene cluster. J Clin Endocrinol Metab 1990;70:187-191.
    • (1990) J Clin Endocrinol Metab , vol.70 , pp. 187-191
    • Mullis, P.1    Patel, M.2    Brickell, P.M.3    Brook, C.G.4
  • 20
    • 0027499362 scopus 로고
    • Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone
    • Gaylinn BD, Harrison JK, Zysk JR, Lyons CE, Lynch KR, Thorner MO: Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone. Mol Endocrinol 1993;7:77-84.
    • (1993) Mol Endocrinol , vol.7 , pp. 77-84
    • Gaylinn, B.D.1    Harrison, J.K.2    Zysk, J.R.3    Lyons, C.E.4    Lynch, K.R.5    Thorner, M.O.6
  • 21
    • 0027265595 scopus 로고
    • GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function
    • Godfrey P, Rahal JO, Beamer WG, Copeland NG, Jenkins NA, Mayo KE: GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function. Nat Genet 1993;4:227-232.
    • (1993) Nat Genet , vol.4 , pp. 227-232
    • Godfrey, P.1    Rahal, J.O.2    Beamer, W.G.3    Copeland, N.G.4    Jenkins, N.A.5    Mayo, K.E.6
  • 22
    • 0030033150 scopus 로고    scopus 로고
    • Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse
    • Wajnrajch MP, Gartner JM, Harbison MD, Chua SC Jr, Leibel RL: Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nat Genet 1996;12:88-90.
    • (1996) Nat Genet , vol.12 , pp. 88-90
    • Wajnrajch, M.P.1    Gartner, J.M.2    Harbison, M.D.3    Chua S.C., Jr.4    Leibel, R.L.5
  • 23
    • 0031732361 scopus 로고    scopus 로고
    • Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh
    • Maheshwari HG, Silverman BL, Dupuis J, Baumann G: Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh. J Clin Endocrinol Metab 1998;83:4065-4074.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 4065-4074
    • Maheshwari, H.G.1    Silverman, B.L.2    Dupuis, J.3    Baumann, G.4
  • 24
    • 0031732852 scopus 로고    scopus 로고
    • Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene
    • Netchine I, Talon P, Dastot F, Vitaux F, Goossens M, Amselem S: Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. J Clin Endocrinol Metab 1998;83:432-436.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 432-436
    • Netchine, I.1    Talon, P.2    Dastot, F.3    Vitaux, F.4    Goossens, M.5    Amselem, S.6
  • 26
    • 0022963679 scopus 로고
    • Homeotic genes and the homeobox
    • Gehring WJ, Hiromi Y: Homeotic genes and the homeobox. Annu Rev Genet 1986;20:147-173.
    • (1986) Annu Rev Genet , vol.20 , pp. 147-173
    • Gehring, W.J.1    Hiromi, Y.2
  • 29
    • 0025286831 scopus 로고
    • Pituitary cell phenotypes involve cell-specific Pit-1 mRNA translation and synergistic interactions with other classes of transcription factors
    • Simmons DM, Voss JW, Ingraham HA, Holloway JM, Broide RS, Rosenfeld MG, Swanson LW: Pituitary cell phenotypes involve cell-specific Pit-1 mRNA translation and synergistic interactions with other classes of transcription factors. Genes Dev 1990;4:695-711.
    • (1990) Genes Dev , vol.4 , pp. 695-711
    • Simmons, D.M.1    Voss, J.W.2    Ingraham, H.A.3    Holloway, J.M.4    Broide, R.S.5    Rosenfeld, M.G.6    Swanson, L.W.7
  • 30
    • 0016756601 scopus 로고
    • The pituitary dwarf mouse: A model for study of endocrine immunodeficiency disease
    • Duquesnoy RJ: The pituitary dwarf mouse: A model for study of endocrine immunodeficiency disease. Birth Defects Orig Artic Ser 1975; 11:536-543.
    • (1975) Birth Defects Orig Artic Ser , vol.11 , pp. 536-543
    • Duquesnoy, R.J.1
  • 31
    • 0025014024 scopus 로고
    • Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene Pit-1
    • Li S, Crenshaw EBD, Rawson EJ, Simmons DM, Swanson LW, Rosenfeld MG: Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene Pit-1. Nature 1990;347:528-533.
    • (1990) Nature , vol.347 , pp. 528-533
    • Li, S.1    Crenshaw, E.B.D.2    Rawson, E.J.3    Simmons, D.M.4    Swanson, L.W.5    Rosenfeld, M.G.6
  • 35
    • 0026767630 scopus 로고
    • A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency
    • Radovick S, Nations M, Du Y, Berg LA, Weintraub BD, Wondisford FE: A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. Science 1992;257:1115-1118.
    • (1992) Science , vol.257 , pp. 1115-1118
    • Radovick, S.1    Nations, M.2    Du, Y.3    Berg, L.A.4    Weintraub, B.D.5    Wondisford, F.E.6
  • 37
    • 0025885764 scopus 로고
    • Localization of the panhypopituitary dwarf mutation (df) on mouse chromosome 11 in an intersubspecific backeross
    • Buckwalter MS, Katz RW, Camper SA: Localization of the panhypopituitary dwarf mutation (df) on mouse chromosome 11 in an intersubspecific backeross. Genomics 1991;10:515-526.
    • (1991) Genomics , vol.10 , pp. 515-526
    • Buckwalter, M.S.1    Katz, R.W.2    Camper, S.A.3
  • 41
    • 0031741771 scopus 로고    scopus 로고
    • 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)
    • Fluck C, Deladoey J, Rutishauser K, Eble A, Marti U, Wu W, Mullis PE: 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.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 3727-3734
    • Fluck, C.1    Deladoey, J.2    Rutishauser, K.3    Eble, A.4    Marti, U.5    Wu, W.6    Mullis, P.E.7
  • 42
    • 0033971815 scopus 로고    scopus 로고
    • MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROP1 mutations
    • Fofanova O, Takamura N, Kinoshita E, Vorontsov A, Vladimirova V, Dedov I, Peterkova V, Yamashita S: MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROP1 mutations. Am J Roentgenol 2000;174:555-559.
    • (2000) Am J Roentgenol , vol.174 , pp. 555-559
    • Fofanova, O.1    Takamura, N.2    Kinoshita, E.3    Vorontsov, A.4    Vladimirova, V.5    Dedov, I.6    Peterkova, V.7    Yamashita, S.8
  • 44
    • 0032989717 scopus 로고    scopus 로고
    • Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene
    • Mendonca BB, Osorio MG, Latronico AC, Estefan V, Lo LS, Arnhold IJ: Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene. J Clin Endocrinol Metab 1999; 84:942-945.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 942-945
    • Mendonca, B.B.1    Osorio, M.G.2    Latronico, A.C.3    Estefan, V.4    Lo, L.S.5    Arnhold, I.J.6
  • 49
    • 0030923755 scopus 로고    scopus 로고
    • A family of LIM domain-associated cofactors confer transcriptional synergism between LIM and Otx homeodomain proteins
    • Bach I, Carriere C, Ostendorff HP, Andersen B, Rosenfeld MG: A family of LIM domain-associated cofactors confer transcriptional synergism between LIM and Otx homeodomain proteins. Genes Dev 1997;11:1370-1380.
    • (1997) Genes Dev , vol.11 , pp. 1370-1380
    • Bach, I.1    Carriere, C.2    Ostendorff, H.P.3    Andersen, B.4    Rosenfeld, M.G.5
  • 51
    • 0028929541 scopus 로고
    • Expression pattern of the murine LIM class homeobox gene Lhx3 in subsets of neural and neuroendocrine tissues
    • Zhadanov AB, Bertuzzi S, Taira M, Dawid IB, Westphal H: Expression pattern of the murine LIM class homeobox gene Lhx3 in subsets of neural and neuroendocrine tissues. Dev Dyn 1995;202:354-364.
    • (1995) Dev Dyn , vol.202 , pp. 354-364
    • Zhadanov, A.B.1    Bertuzzi, S.2    Taira, M.3    Dawid, I.B.4    Westphal, H.5
  • 53
    • 0026535789 scopus 로고
    • Prevalence of human growth hormone-1 gene deletions among patients with isolated growth hormone deficiency from different populations
    • Mullis PE, Akinci A, Kanaka C, Eble A, Brook CG: Prevalence of human growth hormone-1 gene deletions among patients with isolated growth hormone deficiency from different populations. Pediatr Res 1992;31:532-534.
    • (1992) Pediatr Res , vol.31 , pp. 532-534
    • Mullis, P.E.1    Akinci, A.2    Kanaka, C.3    Eble, A.4    Brook, C.G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.