Deficiency of the Circulating Insulin-like Growth Factor System Associated with Inactivation of the Acid-Labile Subunit Gene

New England Journal of Medicine

Volumn 350, Issue 6, 2004, Pages 570-577

  Domené, Horacio M ^a   Bengolea, Sonia V ^b   Martínez, Alicia S ^a   Ropelato, M Gabriela ^a   Pennisi, Patricia ^a   Scaglia, Paula ^a   Heinrich, Juan J ^a   Jasper, Héctor G ^a  

^a HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^b HOSPITAL JUAN A FERNÁNDEZ   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; PROTEIN SUBUNIT; SOMATOMEDIN;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DELAYED PUBERTY; GENE INACTIVATION; GENETIC ASSOCIATION; GROWTH HORMONE DEFICIENCY; GROWTH RETARDATION; HUMAN; MALE; PRIORITY JOURNAL;

ADOLESCENT; CARRIER PROTEINS; GLYCOPROTEINS; GONADAL STEROID HORMONES; GROWTH DISORDERS; HUMAN GROWTH HORMONE; HUMANS; INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN 3; MALE; PUBERTY, DELAYED;

EID: 0742287816     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJMoa013100     Document Type: Article

References (53)

1. Salmon WD Jr, Daughaday WH. A hormonally controlled serum factor which stimulates sulfate incorporation by cartilage in vitro. J Lab Clin Med 1957;49:825-36.
2. D'Ercole AJ, Applewhite GT, Underwood LE. Evidence that somatomedin is synthesized by multiple tissues in the fetus. Dev Biol 1980;75:315-28.
3. Isaksson OG, Jansson JO, Gause IA. Growth hormone stimulates longitudinal bone growth directly. Science 1982;216:1237-9.
4. Le Roith D, Bondy C, Yakar S, Liu J-L, Butler A. The somatomedin hypothesis: 2001. Endocr Rev 2001;22:53-74.
5. Baxter RC. Circulating levels and molecular distribution of the acid-labile α-subunit of the high molecular weight insulin-like growth factor-binding protein complex. J Clin Endocrinol Metab 1990;70:1347-53.
6. Baxter RC, Martin JL, Beniac VA. High molecular weight insulin-like growth factor binding protein complex: purification and properties of the acid-labile subunit from human serum. J Biol Chem 1989;264:11843-8.
7. Ooi GT, Cohen FJ, Tseng LY-H, Rechler MM, Boisclair YK. Growth hormone stimulates transcription of the gene encoding the acid-labile subunit (ALS) of the circulating insulin-like growth factor-binding protein complex and ALS promoter activity in rat liver. Mol Endocrinol 1997;11:997-1007.
8. Guler H-P, Zapf J, Schmid C, Froesch ER. Insulin-like growth factors I and II in healthy man: estimations of half-lives and production rates. Acta Endocrinol (Copenh) 1989;121:753-8.
9. Sjögren K, Liu J-L, Blad K, et al. Liver-derived insulin-like growth factor I (IGF-I) is the principal source of IGF-I in blood but is not required for postnatal body growth in mice. Proc Natl Acad Sci U S A 1999;96:7088-92.
10. Yakar S, Liu J-L, Stannard B, et al. Normal growth and development in the absence of hepatic insulin-like growth factor I. Proc Natl Acad Sci U S A 1999;96:7324-9.
11. Ueki I, Ooi GT, Tremblay ML, Hurst KR, Bach LA, Boisclair YR. Inactivation of the acid labile subunit gene in mice results in mild retardation of postnatal growth despite profound disruptions in the circulating insulin-like growth factor system. Proc Natl Acad Sci U S A 2000;97:6868-73.
12. Lejarraga H, Orfila G. Estándares de peso y estatura para niñas y niños argentinos desde el nacimiento hasta la madurez. Arch Arg Pediatr 1987;85:209-22.
13. Tanner JM. Physical growth and development. In: Forfar JO, Arneil GC, eds. Textbook of paediatrics. 2nd ed. Vol. 1. Edinburgh, Scotland: Churchill Livingstone, 1978:249-303.
14. Marshall WA, Tanner JM. Variations in the pattern of pubertal changes in boys. Arch Dis child 1970;45:13-23.
15. Greulich WW, Pyle SI. Radiographic atlas of skeletal development of the hand and wrist. 2nd ed. Stanford, Calif.: Stanford University Press, 1959.
16. Martínez AS, Domené HM, Ropelato MG, et al. Estrogen priming effect on growth hormone (GH) provocative test: a useful tool for the diagnosis of GH deficiency. J Clin Endocrinol Metab 2000;85:4168-72.
17. Khosravi MJ, Diamandi A, Mistry J, Krishna RG, Khare A. Acid-labile subunit of human insulin-like growth factor-binding protein complex: measurement, molecular, and clinical evaluation. J Clin Endocrinol Metab 1997;82:3944-51.
18. Fisker S, Frystyk J, Skriver L, Vestbo E, Ho KKY, Ørskov H. A simple, rapid immunometric assay for determination of functional and growth hormone-occupied growth hormone-binding protein in human serum. Eur J Clin Invest 1996;26:779-85.
19. Veldhuis JD, Johnson ML. Cluster analysis: a simple, versatile and robust algorithm for endocrine pulse detection. Am J Physiol 1986;250:E486-E493.
20. Hossenlopp P, Sevrin D, Segovia-Quinson B, Hardouin S, Binoux M. Analysis of serum insulin-like growth factor binding proteins using Western blotting: use of the method for titration of the binding proteins and competitive binding studies. Anal Biochem 1986;154:138-43.
21. Labarta JI, Gargosky SE, Simpson DM, et al. Immunoblot studies of the acid-labile subunit (ALS) in biological fluids, normal human serum and in children with GH deficiency and GH receptor deficiency before and after long-term therapy with GH or IGF-I respectively. Clin Endocrinol (Oxf) 1997;47:657-66.
22. Baxter RC, Martin JL. Structure of the MΓ 140,000 growth hormone-dependent insulin-like growth factor binding protein complex: determination by reconstitution and affinity-labeling. Proc Natl Acad Sci U S A 1989;86:6898-902.
23. Lowe T, Sharefkin J, Yang SQ, Dieffenbach CW. A computer program for selection of oligonucleotide primers for polymerase chain reactions. Nucleic Acids Res 1990;18:1757-61.
24. Leong SR, Baxter RC, Camerato T, Dai J, Wood WI. Structure and functional expression of the acid-labile subunit of the insulin-like growth factor-binding protein complex. Mol Endocrinol 1992;6:870-6.
25. Suwanichkul A, Boisclair YR, Olney RC, Durham SK, Powell DR, Conservation of a growth hormone-responsive promoter element in the human and mouse acid-labile subunit genes. Endocrinology 2000;141:833-8.
26. Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutation and DNA polymorphisms using the polymerase chain reaction. Genomics 1989;5:874-9.
27. Uejima H, Lee MP, Cui H, Feinberg AP. Hot-stop PCR: a simple and general assay for linear quantitation of allele ratios. Nat Genet 2000;25:375-6. [Erratum, Nat Genet 2001;28:97.]
28. Uejima H, Lee MP, Cui H, Feinberg AP. Hot-stop PCR: a simple and general assay for linear quantitation of allele ratios. Nat Genet 2000;25:375-6. [Erratum, Nat Genet 2001;28:97.]
29. Goji K, Tanizake S. Comparison between spontaneous gonadotropin concentration profiles and gonadotropin response to low-dose gonadotropin-releasing hormone in prepubertal and early pubertal boys and patients with hypogonadotropic hypogonadism: assessment by using ultrasensitive, time-resolved immunofluorometric assay. Pediatr Res 1992;31:535-9.
30. Ropelato MG, Martínez A, Heinrich JJ, Bergadá C. Reproducibility and comparison of growth hormone secretion tests. J Pediatr Endocrinol Metab 1996;9:41-50.
31. Legro RS, Finegood D, Dunaif A. A fasting glucose to insulin ratio is a useful measure of insulin sensitivity in women with polycystic ovary syndrome. J Clin Endocrinol Metab 1998;83:2694-8.
32. Silfen ME, Manibo AM, McMahon DJ, Levine LS, Murphy AR, Oberfield SE. Comparison of simple measures of insulin sensitivity in young girls with premature adrenarche: the fasting glucose to insulin ratio may be a simple and useful measure. J Clin Endocrinol Metab 2001;86:2863-8.
33. Matsuda M, DeFronzo RA. Insulin sensitivity indices obtained from oral glucose tolerance testing: comparison with the euglycemic insulin clamp. Diabetes Care 1999;22:1462-70.
34. GenBank. Bethesda, Md.: National Center for Biotechnology Information. Object name: D16S3024 dinucleotide repeat. (Accessed January 9, 2004, at http://www.gdb.org/gdb-bin/genera/genera/hgd/ObjectName/3194896?!sub=0.)
35. Idem. Bethesda, Md.: National Center for Biotechnology Information. Object name: D16S521. (Accessed January 9, 2004, at http://www.gdb.org/gdb-bin/genera/genera/hgd/ObjectName/3460930?! sub=0.)
36. Tanner JM, Whitehouse RH, Takaishi M. Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. Arch Dis Child 1966;41:454-71,613-35.
37. Rosenfeld RG, Rosenbloom AL, Guevara-Aguirre J. Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr Rev 1994;15:369-90.
38. Kowarski AA, Schneider JJ, Ben-Galim E, Weldon VV, Daughaday WH. Growth failure with normal serum RIA-GH and low somatomedin activity: somatomedin restoration and growth acceleration after exogenous GH. J Clin Endocrinol Metab 1978;47:461-4.
39. Takahashi Y, Kaji H, Okimura Y, Goji K, Abe H, Chihara K. Short stature caused by a mutant growth hormone. N Engl J Med 1996;334:432-6. [Erratum, N Engl J Med 1996;334:1207.]
40. Takahashi Y, Kaji H, Okimura Y, Goji K, Abe H, Chihara K. Short stature caused by a mutant growth hormone. N Engl J Med 1996;334:432-6. [Erratum, N Engl J Med 1996;334:1207.]
41. Woods KA, Clark AJ, Amselem S, Savage MO. Relationship between phenotype and genotype in growth hormone insensitivity syndrome. Acta Paediatr Suppl 1999;88:158-62.
42. Le Roith D, Scavo L, Butler A. What is the role of circulating IGF-I? Trends Endocrinol Metab 2001;12:48-52.
43. Chapman IM, Hartman ML, Pieper KS, et al. Recovery of growth hormone release from suppression by exogenous insulin-like growth factor I (IGF-I): evidence for a suppressive action of free rather than bound IGF-I. J Clin Endocrinol Metab 1998;83:2836-42.
44. Buckway CK, Guevara-Aguirre J, Pratt KL, Burren CP, Rosenfeld RG. The IGF-I generation test revisited: a marker of GH sensitivity. J Clin Endocrinol Metab 2001;86:5176-83.
45. Blum WF, Ranke MB, Savage MO, Hall K. Insulin-like growth factors and their binding proteins in patients with growth hormone receptor deficiency: suggestions for new diagnostic criteria. Acta Paediatr Suppl 1992;383:125-6.
46. Janosi JB, Ramsland PA, Mott MR, Firth SM, Baxter RC, Delhanty PJ. The acid-labile subunit of the serum insulin-like growth factor-binding protein complexes: structural determination by molecular modeling and electron microscopy. J Biol Chem 1999;274:23328-32.
47. Tanner JM, Whitehouse RH. A note on the bone age at which patients with true isolated growth hormone deficiency enter puberty. J Clin Endocrinol Metab 1975;41:788-90.
48. Woods KA, Camacho-Hübner C, Savage MO, Clark AJL. Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N Engl J Med 1996;335:1363-7.
49. Moses AC, Young SCJ, Morrow LA, O'Brien M, Clemmons DR. Recombinant human insulin-like growth factor I increases insulin sensitivity and improves glycemic control in type II diabetes. Diabetes 1996;45:91-100.
50. Sjögren K, Wallenius K, Liu J-L, et al. Liver-derived IGF-I is of importance for normal carbohydrates and lipid metabolism. Diabetes 2001;50:1539-45.
51. Yakar S, Liu J-L, Fernández AM, et al. Liver-specific igf-1 gene deletion leads to muscle insulin insensitivity. Diabetes 2001;50:1110-8.
52. Boisclair YR, Rhoads RP, Ueki I, Wang J, Ooi GT. 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 2001;170:63-70.
53. Butler AA, LeRoith D. Tissue-specific versus generalized gene targeting of the igf1 and igf1τ genes and their roles in insulin-like growth factor physiology. Endocrinology 2001;142:1685-8.