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Volumn 3, Issue SUPPL. 2, 2006, Pages 318-327

Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a

Author keywords

Albright Hereditary Osteodystrophy; G Protein; GHRH Resistance; GNAS; Growth Hormone Deficiency; Pseudohypoparathyroidism

Indexed keywords

FOLLITROPIN; GLUCAGON; GROWTH HORMONE RELEASING FACTOR; GUANINE NUCLEOTIDE BINDING PROTEIN; LUTEINIZING HORMONE; PARATHYROID HORMONE; RECOMBINANT GROWTH HORMONE; THYROTROPIN;

EID: 33646230544     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (40)

References (65)
  • 1
    • 0141606268 scopus 로고    scopus 로고
    • Growth hormone deficiency in pseudohypoparathyroidism type 1a: Another manifestation of multihormone resistance
    • Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA. Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinol Metab 2003;88:4059-4069
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 4059-4069
    • Germain-Lee, E.L.1    Groman, J.2    Crane, J.L.3    Jan De Beur, S.M.4    Levine, M.A.5
  • 2
    • 0005371412 scopus 로고    scopus 로고
    • Pseudohypoparathyroidism
    • Bilezikian JP, Raisz LG, Rodan GA (eds). Academic Press
    • Levine MA. Pseudohypoparathyroidism. In: Bilezikian JP, Raisz LG, Rodan GA (eds). San Diego: Principles of Bone Biology. Academic Press, 2002;1137-1163
    • (2002) San Diego: Principles of Bone Biology , pp. 1137-1163
    • Levine, M.A.1
  • 3
    • 0034793851 scopus 로고    scopus 로고
    • Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting
    • Weinstein LS, Yu S, Warner DR, Liu J. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev 2001;22:675-705
    • (2001) Endocr Rev , vol.22 , pp. 675-705
    • Weinstein, L.S.1    Yu, S.2    Warner, D.R.3    Liu, J.4
  • 4
    • 17844406661 scopus 로고    scopus 로고
    • GNAS locus and pseudohypoparathyroidism
    • Bastepe M, Juppner H. GNAS locus and pseudohypoparathyroidism. Horm Res 2005;63:65-74
    • (2005) Horm Res , vol.63 , pp. 65-74
    • Bastepe, M.1    Juppner, H.2
  • 6
    • 0141788038 scopus 로고    scopus 로고
    • Editorial: Pseudohypoparathyroidism and mechanisms of resistance toward multiple hormones: Molecular evidence to clinical presentation
    • Bastepe M, Juppner H. Editorial: Pseudohypoparathyroidism and mechanisms of resistance toward multiple hormones: molecular evidence to clinical presentation. J Clin Endocrinol Metab 2003;88:4055-4058
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 4055-4058
    • Bastepe, M.1    Juppner, H.2
  • 8
    • 0027399429 scopus 로고
    • Imprinting in Albright's hereditary osteodystrophy
    • Davies SJ, Hughes HE. Imprinting in Albright's hereditary osteodystrophy. J Med Genet 1993;30:101-103
    • (1993) J Med Genet , vol.30 , pp. 101-103
    • Davies, S.J.1    Hughes, H.E.2
  • 9
    • 0020627955 scopus 로고
    • Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein
    • Levine MA, Downs RW Jr, Moses AM, Breslau NA, Marx SJ, Lasker RD, Rizzoli RE, Aurbach GD, Spiegel AM. Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. Am J Med 1983;74:545-556
    • (1983) Am J Med , vol.74 , pp. 545-556
    • Levine, M.A.1    Downs Jr., R.W.2    Moses, A.M.3    Breslau, N.A.4    Marx, S.J.5    Lasker, R.D.6    Rizzoli, R.E.7    Aurbach, G.D.8    Spiegel, A.M.9
  • 11
    • 0000821313 scopus 로고
    • Pseudohypoparathyroidism: An example of "Seabright-Bantam syndrome."
    • Albright F, Burnett CH, Smith PH. Pseudohypoparathyroidism: an example of "Seabright-Bantam syndrome." Endocrinology 1942;30:922-932
    • (1942) Endocrinology , vol.30 , pp. 922-932
    • Albright, F.1    Burnett, C.H.2    Smith, P.H.3
  • 13
    • 0028053516 scopus 로고
    • Albright's hereditary osteodystrophy
    • Review
    • Wilson LC, Trembath RC. Albright's hereditary osteodystrophy. [Review]. J Med Genet 1994;31:779-784
    • (1994) J Med Genet , vol.31 , pp. 779-784
    • Wilson, L.C.1    Trembath, R.C.2
  • 14
    • 0032433682 scopus 로고    scopus 로고
    • Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
    • Hayward BE, Moran V, Strain L, Bonthron DT. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci U S A 1998;95:15475-15480
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 15475-15480
    • Hayward, B.E.1    Moran, V.2    Strain, L.3    Bonthron, D.T.4
  • 18
    • 0034721886 scopus 로고    scopus 로고
    • Characterization of the extra-large G protein alpha-subunit XLαs. II. Signal transduction properties
    • Klemke M, Pasolli HA, Kehlenbach RH, Offermanns S, Schultz G, Huttner WB. Characterization of the extra-large G protein alpha-subunit XLαs. II. Signal transduction properties. J Biol Chem 2000;275:33633-33640
    • (2000) J Biol Chem , vol.275 , pp. 33633-33640
    • Klemke, M.1    Pasolli, H.A.2    Kehlenbach, R.H.3    Offermanns, S.4    Schultz, G.5    Huttner, W.B.6
  • 19
    • 0034721880 scopus 로고    scopus 로고
    • Characterization of the extra-large G protein alpha -subunit XLαs. I. Tissue distribution and subcellular localization
    • Pasolli HA, Klemke M, Kehlenbach RH, Wang Y, Huttner WB. Characterization of the extra-large G protein alpha -subunit XLαs. I. Tissue distribution and subcellular localization. J Biol Chem 2000;275:33622-33632
    • (2000) J Biol Chem , vol.275 , pp. 33622-33632
    • Pasolli, H.A.1    Klemke, M.2    Kehlenbach, R.H.3    Wang, Y.4    Huttner, W.B.5
  • 20
    • 0030998512 scopus 로고    scopus 로고
    • Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity
    • Ischia R, Lovisetti-Scamihorn P, Hogue-Angeletti R, Wolkersdorfer M, Winkler H, Fischer-Colbrie R. Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity. J Biol Chem 1997;272:11657-11662
    • (1997) J Biol Chem , vol.272 , pp. 11657-11662
    • Ischia, R.1    Lovisetti-Scamihorn, P.2    Hogue-Angeletti, R.3    Wolkersdorfer, M.4    Winkler, H.5    Fischer-Colbrie, R.6
  • 21
    • 0033011717 scopus 로고    scopus 로고
    • Subcellular localization of chromogranins, calcium channels, amine carriers, and proteins of the exocytotic machinery in bovine splenic nerve
    • Leitner B, Lovisetti-Scamihorn P, Heilmann J, Striessnig J, Blakely RD, Eiden LE, Winkler H. Subcellular localization of chromogranins, calcium channels, amine carriers, and proteins of the exocytotic machinery in bovine splenic nerve. J Neurochem 1999;72:1110-1116
    • (1999) J Neurochem , vol.72 , pp. 1110-1116
    • Leitner, B.1    Lovisetti-Scamihorn, P.2    Heilmann, J.3    Striessnig, J.4    Blakely, R.D.5    Eiden, L.E.6    Winkler, H.7
  • 23
    • 0042165833 scopus 로고    scopus 로고
    • Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1
    • Jan de Beur S, Ding C, Germain-Lee E, Cho J, Maret A, Levine MA. Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1. Am J Hum Genet 2003;73:314-322
    • (2003) Am J Hum Genet , vol.73 , pp. 314-322
    • Jan De Beur, S.1    Ding, C.2    Germain-Lee, E.3    Cho, J.4    Maret, A.5    Levine, M.A.6
  • 26
    • 0032555241 scopus 로고    scopus 로고
    • Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsα) knockout mice is due to tissue-specific imprinting of the Gsα gene
    • Yu S, Yu D, Lee E, Eckhaus M, Lee R, Corria I, Accili D, Westphal H, Weinstein LS. Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsα) knockout mice is due to tissue-specific imprinting of the Gsα gene. Proc Natl Acad Sci U S A 1998;95:8715-8720
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 8715-8720
    • Yu, S.1    Yu, D.2    Lee, E.3    Eckhaus, M.4    Lee, R.5    Corria, I.6    Accili, D.7    Westphal, H.8    Weinstein, L.S.9
  • 27
    • 0036020511 scopus 로고    scopus 로고
    • Receptor-mediated adenylyl cyclase activation through XLα(s), the extra-large variant of the stimulatory G protein α-subunit
    • Bastepe M, Gunes Y, Perez-Villamil B, Hunzelman J, Weinstein LS, Juppner H. Receptor-mediated adenylyl cyclase activation through XLα(s), the extra-large variant of the stimulatory G protein α-subunit. Mol Endocrinol 2002;16:1912-1919
    • (2002) Mol Endocrinol , vol.16 , pp. 1912-1919
    • Bastepe, M.1    Gunes, Y.2    Perez-Villamil, B.3    Hunzelman, J.4    Weinstein, L.S.5    Juppner, H.6
  • 32
    • 0141857714 scopus 로고    scopus 로고
    • The stimulatory G protein alpha-subunit Gsα is imprinted in human thyroid glands: Implications for thyroid function in pseudohypoparathyroidism types 1A and 1B
    • Liu J, Erlichman B, Weinstein LS. The stimulatory G protein alpha-subunit Gsα is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab 2003;88:4336-4341
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 4336-4341
    • Liu, J.1    Erlichman, B.2    Weinstein, L.S.3
  • 34
    • 0034701294 scopus 로고    scopus 로고
    • An imprinted antisense transcript at the human GNAS1 locus
    • Hayward BE, Bonthron DT. An imprinted antisense transcript at the human GNAS1 locus. Hum Mol Genet 2000;9:835-841
    • (2000) Hum Mol Genet , vol.9 , pp. 835-841
    • Hayward, B.E.1    Bonthron, D.T.2
  • 35
    • 0026079186 scopus 로고
    • Pseudohypoparath yroidism: Its phenotypic variability and associated disorders in a large family
    • Faull CM, Welbury RR, Paul B, Kendall-Taylor P. Pseudohypoparath yroidism: its phenotypic variability and associated disorders in a large family. Q J Med 1991;78:251-264
    • (1991) Q J Med , vol.78 , pp. 251-264
    • Faull, C.M.1    Welbury, R.R.2    Paul, B.3    Kendall-Taylor, P.4
  • 36
    • 0030817589 scopus 로고    scopus 로고
    • Clinical and biological heterogeneity in pseudohypoparathyroidism syndrome. Results of a multicenter study
    • Marguet C, Mallet E, Basuyau JP, Martin D, Leroy M, Brunelle P. Clinical and biological heterogeneity in pseudohypoparathyroidism syndrome. Results of a multicenter study. Horm Res 1997;48:120-130
    • (1997) Horm Res , vol.48 , pp. 120-130
    • Marguet, C.1    Mallet, E.2    Basuyau, J.P.3    Martin, D.4    Leroy, M.5    Brunelle, P.6
  • 37
    • 0029113971 scopus 로고
    • Pseudohypoparathyroidism type Ia and growth hormone deficiency in two siblings
    • Scott DC, Hung W. Pseudohypoparathyroidism type Ia and growth hormone deficiency in two siblings. J Pediatr Endocrinol Metab 1995;8:205-207
    • (1995) J Pediatr Endocrinol Metab , vol.8 , pp. 205-207
    • Scott, D.C.1    Hung, W.2
  • 38
    • 0023937364 scopus 로고
    • Multiple associated endocrine abnormalities in a patient with pseudohypoparathyroidism type 1a
    • Shima M, Nose O, Shimizu K, Seino Y, Yabuuchi H, Saito T. Multiple associated endocrine abnormalities in a patient with pseudohypoparathyroidism type 1a. Eur J Pediatr 1988;147:536-538
    • (1988) Eur J Pediatr , vol.147 , pp. 536-538
    • Shima, M.1    Nose, O.2    Shimizu, K.3    Seino, Y.4    Yabuuchi, H.5    Saito, T.6
  • 39
    • 0020443129 scopus 로고
    • Improvement in abnormal secretion of thyrotropin and gonadotropin after restoration of serum calcium in pseudohypoparathyroidism
    • Suzuki H, Kasai K, Shimoda S, Mori K, Miyasaka M. Improvement in abnormal secretion of thyrotropin and gonadotropin after restoration of serum calcium in pseudohypoparathyroidism. Endocrinol Jpn 1982;29:69-75
    • (1982) Endocrinol Jpn , vol.29 , pp. 69-75
    • Suzuki, H.1    Kasai, K.2    Shimoda, S.3    Mori, K.4    Miyasaka, M.5
  • 40
    • 0016768964 scopus 로고
    • Growth hormone secretion and sulfation factor activity in pseudohypoparathyroidism
    • Urdanivia E, Mataverde A, Cohen MP. Growth hormone secretion and sulfation factor activity in pseudohypoparathyroidism. J Lab Clin Med 1975;86:772-776
    • (1975) J Lab Clin Med , vol.86 , pp. 772-776
    • Urdanivia, E.1    Mataverde, A.2    Cohen, M.P.3
  • 42
    • 0013912696 scopus 로고
    • The roentgen appearance of pseudohypoparathyroidism (PH) and pseudo-pseudohypoparathyroidism (PPH). Differentiation from other syndromes associated with short metacarpals, metatarsals, and phalanges
    • Steinbach HL, Young DA. The roentgen appearance of pseudohypoparathyroidism (PH) and pseudo-pseudohypoparathyroidism (PPH). Differentiation from other syndromes associated with short metacarpals, metatarsals, and phalanges. Am J Roentgenol Radium Ther Nucl Med 1966;97:49-66
    • (1966) Am J Roentgenol Radium Ther Nucl Med , vol.97 , pp. 49-66
    • Steinbach, H.L.1    Young, D.A.2
  • 43
    • 2442468760 scopus 로고    scopus 로고
    • AACE medical guidelines for clinical practice for growth hormone use in adults and children, 2003 update
    • AACE medical guidelines for clinical practice for growth hormone use in adults and children, 2003 update. Endocr Pract 2003;9:64-76
    • (2003) Endocr Pract , vol.9 , pp. 64-76
  • 44
    • 0035160122 scopus 로고    scopus 로고
    • Diagnosis and management of growth hormone deficiency in childhood and adolescence. Part 1: Diagnosis of growth hormone deficiency
    • Sizonenko PC, Clayton PE, Cohen P, Hintz RL, Tanaka T, Laron Z. Diagnosis and management of growth hormone deficiency in childhood and adolescence. Part 1: diagnosis of growth hormone deficiency. Growth Horm IGF Res 2001;11:137-165
    • (2001) Growth Horm IGF Res , vol.11 , pp. 137-165
    • Sizonenko, P.C.1    Clayton, P.E.2    Cohen, P.3    Hintz, R.L.4    Tanaka, T.5    Laron, Z.6
  • 48
    • 0031753015 scopus 로고    scopus 로고
    • Comparison between insulin-induced hypoglycemia and growth hormone (GH)-releasing hormone + arginine as provocative tests for the diagnosis of GH deficiency in adults
    • Aimaretti G, Corneli G, Razzore P, Bellone S, Baffoni C, Arvat E, Camanni F, Ghigo E. Comparison between insulin-induced hypoglycemia and growth hormone (GH)-releasing hormone + arginine as provocative tests for the diagnosis of GH deficiency in adults. J Clin Endocrinol Metab 1998;83:1615-1618
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 1615-1618
    • Aimaretti, G.1    Corneli, G.2    Razzore, P.3    Bellone, S.4    Baffoni, C.5    Arvat, E.6    Camanni, F.7    Ghigo, E.8
  • 49
    • 0035175866 scopus 로고    scopus 로고
    • A study of the growth-promoting and metabolic effects of growth hormone (GH) in a patient with the "growth without GH" syndrome
    • Pavlou M, Tsatsoulis A, Efstathiadou Z, Bitsis S, Papadopoulou ZL. A study of the growth-promoting and metabolic effects of growth hormone (GH) in a patient with the "growth without GH" syndrome. Growth Horm IGF Res 2001;11:225-230
    • (2001) Growth Horm IGF Res , vol.11 , pp. 225-230
    • Pavlou, M.1    Tsatsoulis, A.2    Efstathiadou, Z.3    Bitsis, S.4    Papadopoulou, Z.L.5
  • 50
    • 0022897196 scopus 로고
    • Outcome in children with normal growth following removal of a craniopharyngioma
    • Blethen SL, Weldon VV. Outcome in children with normal growth following removal of a craniopharyngioma. Am J Med Sci 1986;292:21-24
    • (1986) Am J Med Sci , vol.292 , pp. 21-24
    • Blethen, S.L.1    Weldon, V.V.2
  • 51
    • 0021027470 scopus 로고
    • Insulin-like growth factors I and II, prolactin, and insulin in 19 growth hormone-deficient children with excessive, normal, or decreased longitudinal growth after operation for craniopharyngioma
    • Bucher H, Zapf J, Torresani T, Prader A, Froesch ER, Illig R. Insulin-like growth factors I and II, prolactin, and insulin in 19 growth hormone-deficient children with excessive, normal, or decreased longitudinal growth after operation for craniopharyngioma. N Engl J Med 1983;309:1142-1146
    • (1983) N Engl J Med , vol.309 , pp. 1142-1146
    • Bucher, H.1    Zapf, J.2    Torresani, T.3    Prader, A.4    Froesch, E.R.5    Illig, R.6
  • 54
    • 0028319104 scopus 로고
    • Utah Growth Study: Growth standards and the prevalence of growth hormone deficiency
    • Lindsay R, Feldkamp M, Harris D, Robertson J, Rallison M. Utah Growth Study: growth standards and the prevalence of growth hormone deficiency. J Pediatr 1994;125:29-35
    • (1994) J Pediatr , vol.125 , pp. 29-35
    • Lindsay, R.1    Feldkamp, M.2    Harris, D.3    Robertson, J.4    Rallison, M.5
  • 56
    • 0026229192 scopus 로고
    • Growth hormone deficiency in Sri Lanka: A preliminary study
    • de Mel T, Warnasooriya N, Fonseka C. Growth hormone deficiency in Sri Lanka: a preliminary study. Ceylon Med J 1991;36:95-97
    • (1991) Ceylon Med J , vol.36 , pp. 95-97
    • Mel, T.1    Warnasooriya, N.2    Fonseka, C.3
  • 57
    • 0022429744 scopus 로고
    • Epidemiologic study of dwarfism in Niigata Prefecture
    • Tani N. [Epidemiologic study of dwarfism in Niigata Prefecture]. Nippon Naibunpi Gakkai Zasshi 1985;61:1295-1309
    • (1985) Nippon Naibunpi Gakkai Zasshi , vol.61 , pp. 1295-1309
    • Tani, N.1
  • 59
    • 0033855731 scopus 로고    scopus 로고
    • Activating and inactivating mutations in the human GNAS1 gene
    • Aldred MA, Trembath RC. Activating and inactivating mutations in the human GNAS1 gene. Hum Mutat 2000;16:183-189
    • (2000) Hum Mutat , vol.16 , pp. 183-189
    • Aldred, M.A.1    Trembath, R.C.2
  • 62
    • 15344349695 scopus 로고    scopus 로고
    • Chondrocyte-specific knockout of the G protein G(s)α leads to epiphyseal and growth plate abnormalities and ectopic chondrocyte formation
    • Sakamoto A, Chen M, Kobayashi T, Kronenberg HM, Weinstein LS. Chondrocyte-specific knockout of the G protein G(s)α leads to epiphyseal and growth plate abnormalities and ectopic chondrocyte formation. J Bone Miner Res 2005;20:663-671
    • (2005) J Bone Miner Res , vol.20 , pp. 663-671
    • Sakamoto, A.1    Chen, M.2    Kobayashi, T.3    Kronenberg, H.M.4    Weinstein, L.S.5
  • 64
    • 0034078012 scopus 로고    scopus 로고
    • Expression of Indian hedgehog, parathyroid hormone-related protein, and their receptors in the postnatal growth plate of the rat: Evidence for a locally acting growth restraining feedback loop after birth
    • van der Eerden BC, Karperien M, Gevers EF, Lowik CW, Wit JM. Expression of Indian hedgehog, parathyroid hormone-related protein, and their receptors in the postnatal growth plate of the rat: evidence for a locally acting growth restraining feedback loop after birth. J Bone Miner Res 2000;15:1045-1055
    • (2000) J Bone Miner Res , vol.15 , pp. 1045-1055
    • Van Der Eerden, B.C.1    Karperien, M.2    Gevers, E.F.3    Lowik, C.W.4    Wit, J.M.5


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