메뉴 건너뛰기




Volumn 17, Issue 5, 2007, Pages 399-407

Severe deficiencies of IGF-I, IGF-II, IGFBP-3, ALS and paradoxically high-normal bone mass in a child with insulin-resistance syndrome (Rabson-Mendenhall type)

Author keywords

Diabetes; Donahue's Syndrome; DXA; Growth; Growth hormone; Hyperinsulinism; Insulin receptor

Indexed keywords

ACID LABILE SUBUNIT; ARGININE; CLONIDINE; GENOMIC DNA; GLUCOSE; GROWTH HORMONE RELEASING FACTOR; HUMAN GROWTH HORMONE; ROSIGLITAZONE; SOMATOMEDIN B; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C; TROGLITAZONE; UNCLASSIFIED DRUG;

EID: 34548273071     PISSN: 10966374     EISSN: 15322238     Source Type: Journal    
DOI: 10.1016/j.ghir.2007.04.007     Document Type: Article
Times cited : (7)

References (45)
  • 1
    • 0026656320 scopus 로고
    • Lilly Lecture: molecular mechanisms of insulin resistance. Lessons from patients with mutations in the insulin-receptor gene
    • Taylor S.I. Lilly Lecture: molecular mechanisms of insulin resistance. Lessons from patients with mutations in the insulin-receptor gene. Diabetes 41 (1992) 1473-1490
    • (1992) Diabetes , vol.41 , pp. 1473-1490
    • Taylor, S.I.1
  • 2
    • 0033305180 scopus 로고    scopus 로고
    • Genetically defined forms of diabetes in children
    • Taylor S.I., and Arioglu E. Genetically defined forms of diabetes in children. J. Clin. Endocrinol. Metab. 84 (1999) 4390-4396
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , pp. 4390-4396
    • Taylor, S.I.1    Arioglu, E.2
  • 4
    • 0028903027 scopus 로고
    • Molecular defects of the insulin receptor gene
    • Accili D. Molecular defects of the insulin receptor gene. Diabetes Metab. Rev. 11 (1995) 47-62
    • (1995) Diabetes Metab. Rev. , vol.11 , pp. 47-62
    • Accili, D.1
  • 5
    • 3242714887 scopus 로고    scopus 로고
    • Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective
    • Musso C., Cochran E., Moran S.A., Skarulis M.C., Oral E.A., Taylor S., et al. Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. Medicine (Baltimore) 83 (2004) 209-222
    • (2004) Medicine (Baltimore) , vol.83 , pp. 209-222
    • Musso, C.1    Cochran, E.2    Moran, S.A.3    Skarulis, M.C.4    Oral, E.A.5    Taylor, S.6
  • 6
    • 0033328136 scopus 로고    scopus 로고
    • Progressive decline in insulin levels in Rabson-Mendenhall syndrome
    • Longo N., Wang Y., and Pasquali M. Progressive decline in insulin levels in Rabson-Mendenhall syndrome. J. Clin. Endocrinol. Metab. 84 (1999) 2623-2629
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , pp. 2623-2629
    • Longo, N.1    Wang, Y.2    Pasquali, M.3
  • 7
    • 0028040846 scopus 로고
    • Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I
    • Longo N., Singh R., Griffin L.D., Langley S.D., Parks J.S., and Elsas L.J. Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I. J. Clin. Endocrinol. Metab. 79 (1994) 799-805
    • (1994) J. Clin. Endocrinol. Metab. , vol.79 , pp. 799-805
    • Longo, N.1    Singh, R.2    Griffin, L.D.3    Langley, S.D.4    Parks, J.S.5    Elsas, L.J.6
  • 8
    • 0025723443 scopus 로고
    • Ligand-mediated immunofunctional assay for quantitation of growth hormone-binding protein in human blood
    • Carlsson L.M., Rowland A.M., Clark R.G., Gesundheit N., and Wong W.L. Ligand-mediated immunofunctional assay for quantitation of growth hormone-binding protein in human blood. J. Clin. Endocrinol. Metab. 73 (1991) 1216-1223
    • (1991) J. Clin. Endocrinol. Metab. , vol.73 , pp. 1216-1223
    • Carlsson, L.M.1    Rowland, A.M.2    Clark, R.G.3    Gesundheit, N.4    Wong, W.L.5
  • 9
    • 0025067390 scopus 로고
    • Human insulin-receptor gene. Partial sequence and amplification of exons by polymerase chain reaction
    • Seino S., Seino M., and Bell G.I. Human insulin-receptor gene. Partial sequence and amplification of exons by polymerase chain reaction. Diabetes 39 (1990) 123-128
    • (1990) Diabetes , vol.39 , pp. 123-128
    • Seino, S.1    Seino, M.2    Bell, G.I.3
  • 10
    • 0021985413 scopus 로고
    • Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes
    • Ullrich A., Bell J.R., Chen E.Y., Herrera R., Petruzzelli L.M., Dull T.J., et al. Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes. Nature 313 (1985) 756-761
    • (1985) Nature , vol.313 , pp. 756-761
    • Ullrich, A.1    Bell, J.R.2    Chen, E.Y.3    Herrera, R.4    Petruzzelli, L.M.5    Dull, T.J.6
  • 11
    • 0024374853 scopus 로고
    • Regulation of growth hormone-independent insulin-like growth factor-binding protein (BP-28) in cultured human fetal liver explants
    • Lewitt M.S., and Baxter R.C. Regulation of growth hormone-independent insulin-like growth factor-binding protein (BP-28) in cultured human fetal liver explants. J. Clin. Endocrinol. Metab. 69 (1989) 246-252
    • (1989) J. Clin. Endocrinol. Metab. , vol.69 , pp. 246-252
    • Lewitt, M.S.1    Baxter, R.C.2
  • 14
    • 0025837067 scopus 로고
    • Abnormal regulation of insulin-like growth factor binding proteins in adolescents with insulin-dependent diabetes
    • Batch J.A., Baxter R.C., and Werther G. Abnormal regulation of insulin-like growth factor binding proteins in adolescents with insulin-dependent diabetes. J. Clin. Endocrinol. Metab. 73 (1991) 964-968
    • (1991) J. Clin. Endocrinol. Metab. , vol.73 , pp. 964-968
    • Batch, J.A.1    Baxter, R.C.2    Werther, G.3
  • 15
    • 0031790829 scopus 로고    scopus 로고
    • Insulin-like growth factor binding protein-I levels are strongly associated with insulin sensitivity and obesity in early pubertal children
    • Travers S.H., Labarta J.I., Gargosky S.E., Rosenfeld R.G., Jeffers B.W., and Eckel R.H. Insulin-like growth factor binding protein-I levels are strongly associated with insulin sensitivity and obesity in early pubertal children. J. Clin. Endocrinol. Metab. 83 (1998) 1935-1939
    • (1998) J. Clin. Endocrinol. Metab. , vol.83 , pp. 1935-1939
    • Travers, S.H.1    Labarta, J.I.2    Gargosky, S.E.3    Rosenfeld, R.G.4    Jeffers, B.W.5    Eckel, R.H.6
  • 16
    • 85047684340 scopus 로고    scopus 로고
    • Clinical review 112: Does serum growth hormone (GH) binding protein reflect human GH receptor function?
    • Amit T., Youdim M.B., and Hochberg Z. Clinical review 112: Does serum growth hormone (GH) binding protein reflect human GH receptor function?. J. Clin. Endocrinol. Metab. 85 (2000) 927-932
    • (2000) J. Clin. Endocrinol. Metab. , vol.85 , pp. 927-932
    • Amit, T.1    Youdim, M.B.2    Hochberg, Z.3
  • 17
    • 0028260333 scopus 로고
    • Growth hormone (GH) insensitivity due to primary GH receptor deficiency
    • Rosenfeld R.G., Rosenbloom A.L., and Guevara-Aguirre J. Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr. Rev. 15 (1994) 369-390
    • (1994) Endocr. Rev. , vol.15 , pp. 369-390
    • Rosenfeld, R.G.1    Rosenbloom, A.L.2    Guevara-Aguirre, J.3
  • 18
    • 0030953725 scopus 로고    scopus 로고
    • Major circadian variations of glucose homeostasis in a patient with Rabson-Mendenhall syndrome and primary insulin resistance due to a mutation (Cys284 → Tyr) in the insulin receptor alpha-subunit
    • Desbois-Mouthon C., Magre J., Duprey J., Caron M., Blivet-Van Eggelpoel M.J., Daubas C., et al. Major circadian variations of glucose homeostasis in a patient with Rabson-Mendenhall syndrome and primary insulin resistance due to a mutation (Cys284 → Tyr) in the insulin receptor alpha-subunit. Pediatr. Res. 42 (1997) 72-77
    • (1997) Pediatr. Res. , vol.42 , pp. 72-77
    • Desbois-Mouthon, C.1    Magre, J.2    Duprey, J.3    Caron, M.4    Blivet-Van Eggelpoel, M.J.5    Daubas, C.6
  • 19
    • 0031442972 scopus 로고    scopus 로고
    • Insulin-like growth factor-binding proteins in serum and other biological fluids: regulation and functions
    • Rajaram S., Baylink D.J., and Mohan S. Insulin-like growth factor-binding proteins in serum and other biological fluids: regulation and functions. Endocr. Rev. 18 (1997) 801-831
    • (1997) Endocr. Rev. , vol.18 , pp. 801-831
    • Rajaram, S.1    Baylink, D.J.2    Mohan, S.3
  • 21
    • 0029943240 scopus 로고    scopus 로고
    • Growth hormone-binding protein related immunoreactivity is regulated by the degree of insulinopenia in diabetes mellitus
    • Kratzsch J., Keliner K., Zilkens T., Schmidt-Gayk H., Selisko T., and Scholz G.H. Growth hormone-binding protein related immunoreactivity is regulated by the degree of insulinopenia in diabetes mellitus. Clin. Endocrinol. (Oxf) 44 (1996) 673-678
    • (1996) Clin. Endocrinol. (Oxf) , vol.44 , pp. 673-678
    • Kratzsch, J.1    Keliner, K.2    Zilkens, T.3    Schmidt-Gayk, H.4    Selisko, T.5    Scholz, G.H.6
  • 22
    • 0027368650 scopus 로고
    • Insulin therapy increases low plasma growth hormone binding protein in children with new-onset type 1 diabetes
    • Arslanian S.A., Menon R.K., Gierl A.P., Heil B.V., and Foley Jr. T.P. Insulin therapy increases low plasma growth hormone binding protein in children with new-onset type 1 diabetes. Diabet. Med. 10 (1993) 833-838
    • (1993) Diabet. Med. , vol.10 , pp. 833-838
    • Arslanian, S.A.1    Menon, R.K.2    Gierl, A.P.3    Heil, B.V.4    Foley Jr., T.P.5
  • 25
    • 0023276184 scopus 로고
    • Short-term metabolic effects of recombinant human insulin-like growth factor I in healthy adults
    • Guler H.P., Zapf J., and Froesch E.R. Short-term metabolic effects of recombinant human insulin-like growth factor I in healthy adults. N. Engl. J. Med. 317 (1987) 137-140
    • (1987) N. Engl. J. Med. , vol.317 , pp. 137-140
    • Guler, H.P.1    Zapf, J.2    Froesch, E.R.3
  • 26
    • 0033679375 scopus 로고    scopus 로고
    • Insulin-like growth factor-binding protein-2 levels in pediatric patients with growth hormone deficiency, eating disorders and acute lymphoblastic leukemia
    • Barrios V., Buno M., Pozo J., Munoz M.T., and Argente J. Insulin-like growth factor-binding protein-2 levels in pediatric patients with growth hormone deficiency, eating disorders and acute lymphoblastic leukemia. Horm. Res. 53 (2000) 221-227
    • (2000) Horm. Res. , vol.53 , pp. 221-227
    • Barrios, V.1    Buno, M.2    Pozo, J.3    Munoz, M.T.4    Argente, J.5
  • 27
    • 0034916960 scopus 로고    scopus 로고
    • The acid-labile subunit (ALS) of the 150 kDa IGF-binding protein complex: an important but forgotten component of the circulating IGF system
    • Boisclair Y.R., Rhoads R.P., Ueki I., Wang J., and Ooi G.T. The acid-labile subunit (ALS) of the 150 kDa IGF-binding protein complex: an important but forgotten component of the circulating IGF system. J. Endocrinol. 170 (2001) 63-70
    • (2001) J. Endocrinol. , vol.170 , pp. 63-70
    • Boisclair, Y.R.1    Rhoads, R.P.2    Ueki, I.3    Wang, J.4    Ooi, G.T.5
  • 29
    • 0027423419 scopus 로고
    • Role of insulin-like growth factors in embryonic and postnatal growth
    • Baker J., Liu J.P., Robertson E.J., and Efstratiadis A. Role of insulin-like growth factors in embryonic and postnatal growth. Cell 75 (1993) 73-82
    • (1993) Cell , vol.75 , pp. 73-82
    • Baker, J.1    Liu, J.P.2    Robertson, E.J.3    Efstratiadis, A.4
  • 30
    • 0027496895 scopus 로고
    • Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r)
    • Liu J.P., Baker J., Perkins A.S., Robertson E.J., and Efstratiadis A. Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r). Cell 75 (1993) 59-72
    • (1993) Cell , vol.75 , pp. 59-72
    • Liu, J.P.1    Baker, J.2    Perkins, A.S.3    Robertson, E.J.4    Efstratiadis, A.5
  • 34
    • 0036078286 scopus 로고    scopus 로고
    • Effects of recombinant human IGF-I and oral contraceptive administration on bone density in anorexia nervosa
    • Grinspoon S., Thomas L., Miller K., Herzog D., and Klibanski A. Effects of recombinant human IGF-I and oral contraceptive administration on bone density in anorexia nervosa. J. Clin. Endocrinol. Metab. 87 (2002) 2883-2891
    • (2002) J. Clin. Endocrinol. Metab. , vol.87 , pp. 2883-2891
    • Grinspoon, S.1    Thomas, L.2    Miller, K.3    Herzog, D.4    Klibanski, A.5
  • 35
    • 18444393384 scopus 로고    scopus 로고
    • Musculoskeletal effects of the recombinant human IGF-I/IGF binding protein-3 complex in osteoporotic patients with proximal femoral fracture: a double-blind, placebo-controlled pilot study
    • Boonen S., Rosen C., Bouillon R., Sommer A., McKay M., Rosen D., et al. Musculoskeletal effects of the recombinant human IGF-I/IGF binding protein-3 complex in osteoporotic patients with proximal femoral fracture: a double-blind, placebo-controlled pilot study. J. Clin. Endocrinol. Metab. 87 (2002) 1593-1599
    • (2002) J. Clin. Endocrinol. Metab. , vol.87 , pp. 1593-1599
    • Boonen, S.1    Rosen, C.2    Bouillon, R.3    Sommer, A.4    McKay, M.5    Rosen, D.6
  • 36
    • 0029805072 scopus 로고    scopus 로고
    • Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene
    • Woods K.A., Camacho-Hubner C., Savage M.O., and Clark A.J. Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N. Engl. J. Med. 335 (1996) 1363-1367
    • (1996) N. Engl. J. Med. , vol.335 , pp. 1363-1367
    • Woods, K.A.1    Camacho-Hubner, C.2    Savage, M.O.3    Clark, A.J.4
  • 37
    • 27744468209 scopus 로고    scopus 로고
    • Acid-labile subunit deficiency: phenotypic similarities and differences between human and mouse
    • Domene H.M., Bengolea S.V., Jasper H.G., and Boisclair Y.R. Acid-labile subunit deficiency: phenotypic similarities and differences between human and mouse. J. Endocrinol. Invest. 28 (2005) 43-46
    • (2005) J. Endocrinol. Invest. , vol.28 , pp. 43-46
    • Domene, H.M.1    Bengolea, S.V.2    Jasper, H.G.3    Boisclair, Y.R.4
  • 38
    • 0742287816 scopus 로고    scopus 로고
    • Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene
    • Domene H.M., Bengolea S.V., Martinez A.S., Ropelato M.G., Pennisi P., Scaglia P., et al. Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. N. Engl. J. Med. 350 (2004) 570-577
    • (2004) N. Engl. J. Med. , vol.350 , pp. 570-577
    • Domene, H.M.1    Bengolea, S.V.2    Martinez, A.S.3    Ropelato, M.G.4    Pennisi, P.5    Scaglia, P.6
  • 39
    • 33751523583 scopus 로고    scopus 로고
    • Normal bone density obtained in the absence of insulin receptor expression in bone
    • Irwin R., Lin H.V., Motyl K.J., and McCabe L.R. Normal bone density obtained in the absence of insulin receptor expression in bone. Endocrinology 147 (2006) 5760-5767
    • (2006) Endocrinology , vol.147 , pp. 5760-5767
    • Irwin, R.1    Lin, H.V.2    Motyl, K.J.3    McCabe, L.R.4
  • 40
    • 18244384200 scopus 로고    scopus 로고
    • Restoration of liver insulin signaling in Insr knockout mice fails to normalize hepatic insulin action
    • Okamoto H., Obici S., Accili D., and Rossetti L. Restoration of liver insulin signaling in Insr knockout mice fails to normalize hepatic insulin action. J. Clin. Invest. 115 (2005) 1314-1322
    • (2005) J. Clin. Invest. , vol.115 , pp. 1314-1322
    • Okamoto, H.1    Obici, S.2    Accili, D.3    Rossetti, L.4
  • 41
    • 0030176341 scopus 로고    scopus 로고
    • Hyperinsulinemia and bone mineral density in an elderly population: The Rotterdam Study
    • Stolk R.P., Van Daele P.L., Pols H.A., Burger H., Hofman A., Birkenhager J.C., et al. Hyperinsulinemia and bone mineral density in an elderly population: The Rotterdam Study. Bone 18 (1996) 545-549
    • (1996) Bone , vol.18 , pp. 545-549
    • Stolk, R.P.1    Van Daele, P.L.2    Pols, H.A.3    Burger, H.4    Hofman, A.5    Birkenhager, J.C.6
  • 44
    • 0032562696 scopus 로고    scopus 로고
    • Insulin receptor-deficient cells as a new tool for dissecting complex interplay in insulin and insulin-like growth factors
    • Lamothe B., Baudry A., Christoffersen C.T., De Meyts P., Jami J., Bucchini D., et al. Insulin receptor-deficient cells as a new tool for dissecting complex interplay in insulin and insulin-like growth factors. FEBS Lett. 426 (1998) 381-385
    • (1998) FEBS Lett. , vol.426 , pp. 381-385
    • Lamothe, B.1    Baudry, A.2    Christoffersen, C.T.3    De Meyts, P.4    Jami, J.5    Bucchini, D.6
  • 45
    • 13344277357 scopus 로고    scopus 로고
    • Early neonatal death in mice homozygous for a null allele of the insulin receptor gene
    • Accili D., Drago J., Lee E.J., Johnson M.D., Cool M.H., Salvatore P., et al. Early neonatal death in mice homozygous for a null allele of the insulin receptor gene. Nat. Genet. 12 (1996) 106-109
    • (1996) Nat. Genet. , vol.12 , pp. 106-109
    • Accili, D.1    Drago, J.2    Lee, E.J.3    Johnson, M.D.4    Cool, M.H.5    Salvatore, P.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.