메뉴 건너뛰기




Volumn 99, Issue 1, 2014, Pages 299-306

High prevalence of PROP1 defects in Lithuania: Phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency

Author keywords

[No Author keywords available]

Indexed keywords

HYDROCORTISONE; RECOMBINANT GROWTH HORMONE;

EID: 84892171122     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-3090     Document Type: Article
Times cited : (32)

References (41)
  • 1
    • 7844241236 scopus 로고    scopus 로고
    • The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency
    • Cogan 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.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 3346-3349
    • Cogan, J.D.1    Wu, W.2    Phillips III, J.A.3
  • 2
    • 0041914342 scopus 로고    scopus 로고
    • Cellular determination in the anterior pituitary gland: PIT-1 and PROP-1 mutations as causes of human combined pituitary hormone deficiency
    • Rodriguez R, Andersen B. Cellular determination in the anterior pituitary gland: PIT-1 and PROP-1 mutations as causes of human combined pituitary hormone deficiency. Minerva Endocrinol. 2003; 28:123-133.
    • (2003) Minerva Endocrinol , vol.28 , pp. 123-133
    • Rodriguez, R.1    Andersen, B.2
  • 3
    • 77954053005 scopus 로고    scopus 로고
    • PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency
    • de Graaff LC, Argente J, Veenma DC, et al. PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency. Horm Res Paediatr. 2010;73:363-371.
    • (2010) Horm Res Paediatr , vol.73 , pp. 363-371
    • De Graaff, L.C.1    Argente, J.2    Veenma, D.C.3
  • 4
    • 6344282311 scopus 로고    scopus 로고
    • PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: A longitudinal analysis
    • Böttner A, Keller E, Kratzsch J, et al. PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. J Clin Endocrinol Metab. 2004;89:5256-5265.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 5256-5265
    • Böttner, A.1    Keller, E.2    Kratzsch, J.3
  • 5
    • 0032561414 scopus 로고    scopus 로고
    • Human Prop-1: Cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency
    • Duquesnoy P, Roy A, Dastot F, et al. Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. FEBS Lett. 1998;437:216-220.
    • (1998) FEBS Lett , vol.437 , pp. 216-220
    • Duquesnoy, P.1    Roy, A.2    Dastot, F.3
  • 6
    • 0242321226 scopus 로고    scopus 로고
    • Transcriptional control during mammalian anterior pituitary development
    • Savage JJ, Yaden BC, Kiratipranon P, Rhodes SJ. Transcriptional control during mammalian anterior pituitary development. Gene. 2003;319:1-19.
    • (2003) Gene , vol.319 , pp. 1-19
    • Savage, J.J.1    Yaden, B.C.2    Kiratipranon, P.3    Rhodes, S.J.4
  • 7
    • 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
  • 8
    • 17344371881 scopus 로고    scopus 로고
    • Mutations in PROP1 cause familial combined pituitary hormone deficiency
    • Wu W, Cogan JD, Pfäffle RW, et al. Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet. 1998; 18:147-149.
    • (1998) Nat Genet , vol.18 , pp. 147-149
    • Wu, W.1    Cogan, J.D.2    Pfäffle, R.W.3
  • 9
    • 7844222462 scopus 로고    scopus 로고
    • Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency
    • Fofanova O, Takamura N, Kinoshita E, et al. Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency. J Clin Endocrinol Metab. 1998;83:2601-2604.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 2601-2604
    • Fofanova, O.1    Takamura, N.2    Kinoshita, E.3
  • 10
    • 34347360813 scopus 로고    scopus 로고
    • High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency
    • Halász Z, Toke J, Patócs A, et al. High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency. Endocrine. 2006;30:255-260.
    • (2006) Endocrine , vol.30 , pp. 255-260
    • Halász, Z.1    Toke, J.2    Patócs, A.3
  • 11
    • 79551611089 scopus 로고    scopus 로고
    • Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary
    • Halász Z. [Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary]. Orv Hetil. 2011;152:221-232.
    • (2011) Orv Hetil , vol.152 , pp. 221-232
    • Halász, Z.1
  • 12
    • 82455187939 scopus 로고    scopus 로고
    • Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects
    • Obermannova B, Pfaeffle R, Zygmunt-Gorska A, et al. Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects. Horm Res Paediatr. 2011;76:348-354.
    • (2011) Horm Res Paediatr , vol.76 , pp. 348-354
    • Obermannova, B.1    Pfaeffle, R.2    Zygmunt-Gorska, A.3
  • 13
    • 82455184506 scopus 로고    scopus 로고
    • Screening of a large cohort of pediatric patients with GH deficiency for mutations in genes involved in the regulation of pituitary development and GH secretion. Abstract
    • Blum WF, Shavrikova EP, Sampson C, et al. Screening of a large cohort of pediatric patients with GH deficiency for mutations in genes involved in the regulation of pituitary development and GH secretion. Abstract. Horm Res Paediatr. 2010;74(S3):27.
    • (2010) Horm Res Paediatr. , vol.74 , Issue.3 S , pp. 27
    • Blum, W.F.1    Shavrikova, E.P.2    Sampson, C.3
  • 14
    • 69949117434 scopus 로고    scopus 로고
    • Radiological findings in patients with combined pituitary hormone deficiency due to PROP-1 gene mutation-.[Abstract]
    • Zygmunt-Gorska A, Starzyk J, Sucharski P, Herman-Sucharska I, Adamek D, Pietrzyk JJ. Radiological findings in patients with combined pituitary hormone deficiency due to PROP-1 gene mutation-.[Abstract]. Horm Res. 2007;68(S1):39.
    • (2007) Horm Res , vol.68 , Issue.1 S , pp. 39
    • Zygmunt-Gorska, A.1    Starzyk, J.2    Sucharski, P.3    Herman-Sucharska, I.4    Adamek, D.5    Pietrzyk, J.J.6
  • 15
    • 33748782519 scopus 로고    scopus 로고
    • PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency
    • Lemos MC, Gomes L, Bastos M, et al. PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency. Clin Endocrinol. 2006;65:479-485.
    • (2006) Clin Endocrinol , vol.65 , pp. 479-485
    • Lemos, M.C.1    Gomes, L.2    Bastos, M.3
  • 16
    • 26244452186 scopus 로고    scopus 로고
    • Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects
    • Lebl J, Vosáhlo J, Pfaeffle RW, et al. Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects. Eur J Endocrinol. 2005;153:389-396.
    • (2005) Eur J Endocrinol , vol.153 , pp. 389-396
    • Lebl, J.1    Vosáhlo, J.2    Pfaeffle, R.W.3
  • 18
    • 0034056505 scopus 로고    scopus 로고
    • The molecular basis for developmental disorders of the pituitary gland in man
    • Dattani MT, Robinson IC. The molecular basis for developmental disorders of the pituitary gland in man. Clin Genet. 2000;57:337-346.
    • (2000) Clin Genet , vol.57 , pp. 337-346
    • Dattani, M.T.1    Robinson, I.C.2
  • 19
    • 0034485839 scopus 로고    scopus 로고
    • Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion
    • Agarwal G, Bhatia V, Cook S, Thomas PQ. Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion. J Clin Endocrinol Metab. 2000;85:4556-4561.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 4556-4561
    • Agarwal, G.1    Bhatia, V.2    Cook, S.3    Thomas, P.Q.4
  • 20
    • 0036373893 scopus 로고    scopus 로고
    • GH deficiency might be associated with normal height in PROP1 deficiency
    • Dattani MT. GH deficiency might be associated with normal height in PROP1 deficiency. Clin Endocrinol. 2002;57:157-158.
    • (2002) Clin Endocrinol , vol.57 , pp. 157-158
    • Dattani, M.T.1
  • 21
    • 0035992791 scopus 로고    scopus 로고
    • Genetic defects in the development and function of the anterior pituitary gland
    • Cushman LJ, Showalter AD, Rhodes SJ. Genetic defects in the development and function of the anterior pituitary gland. Ann Med. 2002;34:179-191.
    • (2002) Ann Med , vol.34 , pp. 179-191
    • Cushman, L.J.1    Showalter, A.D.2    Rhodes, S.J.3
  • 24
    • 4744350773 scopus 로고    scopus 로고
    • The 6th nationwide anthropological survey of children and adolescents in the Czech Republic in 2001
    • Kobzova J, Vignerova J, Blaha P, Krejcovsky L, Riedlova J. The 6th nationwide anthropological survey of children and adolescents in the Czech Republic in 2001. Cent Eur J Publ Health. 2004;12:126-130.
    • (2004) Cent Eur J Publ Health , vol.12 , pp. 126-130
    • Kobzova, J.1    Vignerova, J.2    Blaha, P.3    Krejcovsky, L.4    Riedlova, J.5
  • 26
    • 0033364494 scopus 로고    scopus 로고
    • Normal development of the pituitary gland: Assessment with three-dimensional MR volumetry
    • Takano K, Utsunomiya H, Ono H, Ohfu M, Okazaki M. Normal development of the pituitary gland: assessment with three-dimensional MR volumetry. AJNR Am J Neuroradiol. 1999;20:312-315.
    • (1999) AJNR Am J Neuroradiol , vol.20 , pp. 312-315
    • Takano, K.1    Utsunomiya, H.2    Ono, H.3    Ohfu, M.4    Okazaki, M.5
  • 27
    • 0025911051 scopus 로고
    • Height of normal pituitary gland as a function of age evaluated by magnetic resonance imaging in children
    • Argyropoulou M, Perignon F, Brunelle F, Brauner R, Rappaport R. Height of normal pituitary gland as a function of age evaluated by magnetic resonance imaging in children. Pediatr Radiol. 1991;21:247-249.
    • (1991) Pediatr Radiol , vol.21 , pp. 247-249
    • Argyropoulou, M.1    Perignon, F.2    Brunelle, F.3    Brauner, R.4    Rappaport, R.5
  • 28
    • 0030944013 scopus 로고    scopus 로고
    • MR height of the pituitary gland as a function of age and sex: Especially physiological hypertrophy in adolescence and in climacterium
    • Tsunoda A, Okuda O, Sato K. MR height of the pituitary gland as a function of age and sex: especially physiological hypertrophy in adolescence and in climacterium. AJNR Am J Neuroradiol. 1997; 18:551-554.
    • (1997) AJNR Am J Neuroradiol , vol.18 , pp. 551-554
    • Tsunoda, A.1    Okuda, O.2    Sato, K.3
  • 29
    • 79951959971 scopus 로고    scopus 로고
    • Comparison of three methods for the estimation of the pituitary gland volume using magnetic resonance imaging: A stereological study
    • Ertekin T, Acer N, Turgut AT, Aycan K, Ozçelik O, Turgut M. Comparison of three methods for the estimation of the pituitary gland volume using magnetic resonance imaging: a stereological study. Pituitary. 2011;14:31-38.
    • (2011) Pituitary , vol.14 , pp. 31-38
    • Ertekin, T.1    Acer, N.2    Turgut, A.T.3    Aycan, K.4    Ozçelik, O.5    Turgut, M.6
  • 30
    • 74049143145 scopus 로고    scopus 로고
    • Evaluation of pituitary imaging in patients with prop-1 gene mudoi: Tation
    • [Article in Lithuanian.]
    • Tkacenko N, Lasiene D, Jakstiene S, Basevicius A, Verkauskiene R. [Evaluation of pituitary imaging in patients with prop-1 gene mudoi: tation]. Medicina (Kaunas). 2009;45:693-698. [Article in Lithuanian.]
    • (2009) Medicina (Kaunas) , vol.45 , pp. 693-698
    • Tkacenko, N.1    Lasiene, D.2    Jakstiene, S.3    Basevicius, A.4    Verkauskiene, R.5
  • 31
    • 84876090165 scopus 로고    scopus 로고
    • Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency
    • Kandemir N, Vuralli D, Taskiran E, et al. Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency. Turkish J Pediatr. 2012;54:570-575.
    • (2012) Turkish J Pediatr , vol.54 , pp. 570-575
    • Kandemir, N.1    Vuralli, D.2    Taskiran, E.3
  • 32
    • 38149103277 scopus 로고    scopus 로고
    • Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency
    • Vieira TC, Boldarine VT, Abucham J. Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency. Arq Bras Endocrinol Metabol. 2007; 51:1097-1103.
    • (2007) Arq Bras Endocrinol Metabol , vol.51 , pp. 1097-1103
    • Vieira, T.C.1    Boldarine, V.T.2    Abucham, J.3
  • 33
    • 34250767289 scopus 로고    scopus 로고
    • MRI findings and genotype analysis in patients with childhood onset growth hormone deficiency-correlation with severity of hypopituitarism
    • Zimmermann A, Schenk JP, Grigorescu Sido P, et al. MRI findings and genotype analysis in patients with childhood onset growth hormone deficiency-correlation with severity of hypopituitarism. J Pediatr Endocrinol Metab. 2007;20:587-596.
    • (2007) J Pediatr Endocrinol Metab , vol.20 , pp. 587-596
    • Zimmermann, A.1    Schenk, J.P.2    Grigorescu Sido, P.3
  • 34
    • 79953733124 scopus 로고    scopus 로고
    • Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: Prevalence, evolution of hormone dysfunction and genetic analysis
    • Fernandez-Rodriguez E, Quinteiro C, Barreiro J, et al. Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: prevalence, evolution of hormone dysfunction and genetic analysis. Neuroendocrinology. 2011;93:181-188.
    • (2011) Neuroendocrinology , vol.93 , pp. 181-188
    • Fernandez-Rodriguez, E.1    Quinteiro, C.2    Barreiro, J.3
  • 35
    • 13444254372 scopus 로고    scopus 로고
    • Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia
    • Rainbow LA, Rees SA, Shaikh MG, et al. Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. Clin Endocrinol. 2005;62:163-168.
    • (2005) Clin Endocrinol , vol.62 , pp. 163-168
    • Rainbow, L.A.1    Rees, S.A.2    Shaikh, M.G.3
  • 36
    • 77955391808 scopus 로고    scopus 로고
    • Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: Identification of a single patient with LHX4 deletion
    • Dateki S, Fukami M, Uematsu A, et al. Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion. J Clin Endocrinol Metab. 2010;95:4043-4047.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 4043-4047
    • Dateki, S.1    Fukami, M.2    Uematsu, A.3
  • 37
    • 0345491543 scopus 로고    scopus 로고
    • Clinical characteristics and molecular analysis of PIT1, PROP1, LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging
    • Kim SS, Kim Y, Shin YL, Kim GH, Kim TU, Yoo HW. Clinical characteristics and molecular analysis of PIT1, PROP1, LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging. Horm Res. 2003;60:277-283.
    • (2003) Horm Res. , vol.60 , pp. 277-283
    • Kim, S.S.1    Kim, Y.2    Shin, Y.L.3    Kim, G.H.4    Kim, T.U.5    Yoo, H.W.6
  • 38
    • 0038131004 scopus 로고    scopus 로고
    • Combined pituitary hormone deficiency in Australian children: Clinical and genetic correlates
    • McLennan K, Jeske Y, Cotterill A, et al. Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates. Clin Endocrinol. 2003;58:785-794.
    • (2003) Clin Endocrinol , vol.58 , pp. 785-794
    • McLennan, K.1    Jeske, Y.2    Cotterill, A.3
  • 39
    • 79959513055 scopus 로고    scopus 로고
    • Novel mutations associated with combined pituitary hormone deficiency
    • Romero CJ, Pine-Twaddell E, Radovick S. Novel mutations associated with combined pituitary hormone deficiency. J Mol Endocrinol. 2011;46:93-102.
    • (2011) J Mol Endocrinol , vol.46 , pp. 93-102
    • Romero, C.J.1    Pine-Twaddell, E.2    Radovick, S.3
  • 40
    • 2442568583 scopus 로고    scopus 로고
    • Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: Pituitary enlargement may originate from the intermediate lobe
    • Voutetakis A, Argyropoulou M, Sertedaki A, et al. Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe. J Clin Endocrinol Metab. 2004;89:2200-2206.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 2200-2206
    • Voutetakis, A.1    Argyropoulou, M.2    Sertedaki, A.3
  • 41
    • 33745909903 scopus 로고    scopus 로고
    • Pituitary size fluctuation in long-term MR studies of PROP1 deficient patients: A persistent pathophysiological mechanism?
    • Voutetakis A, Sertedaki A, Livadas S, et al. Pituitary size fluctuation in long-term MR studies of PROP1 deficient patients: a persistent pathophysiological mechanism? J Endocrinol Invest. 2006;29:462-466.
    • (2006) J Endocrinol Invest , vol.29 , pp. 462-466
    • Voutetakis, A.1    Sertedaki, A.2    Livadas, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.