Reduced human growth hormone (hGH) bioactivity without a defect of the GH-1 gene in three patients with rhGH responsive growth failure

Clinical Endocrinology

Volumn 51, Issue 1, 1999, Pages 89-95

  Binder, Gerhard ^a   Benz, M R ^a   Elmlinger, M ^a   Pflaum, C D ^b   Strasburger, C J ^b   Ranke, M B ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; RECOMBINANT GROWTH HORMONE;

ARTICLE; BLOOD SAMPLING; CELL PROLIFERATION; DRUG EFFECT; GENE MUTATION; GROWTH DISORDER; GROWTH HORMONE DEFICIENCY; GROWTH HORMONE RELEASE; HORMONAL REGULATION; HORMONE RESPONSE; HUMAN; HUMAN CELL; IMMUNOREACTIVITY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROCESSING;

ANTIBODIES; BIOLOGICAL ASSAY; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; GROWTH DISORDERS; GROWTH HORMONE; HUMANS; INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN 3; INSULIN-LIKE GROWTH FACTOR I; MALE; RADIOIMMUNOASSAY; RETROSPECTIVE STUDIES;

EID: 0032777669     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.1999.00744.x     Document Type: Article

References (30)

1. Baumann, G. (1991) Growth hormone heterogeneity: genes, isohormones, variants, and binding proteins. Endocrine Review, 12, 424-449.
2. Baxter, R.C. (1997) Acquired growth hormone insensitivity and insulin-like growth factor I bioavailability. Endocrinological Metabolism, 4 (Suppl. B), 65-69.
3. Becker, G.W., Bowsher, R.B., MacKellar, W.C., Poor, M.L., Tackitt, P.M. & Riggin, R.M. (1987) Chemical, physical, and biological characterization of a dimeric form of biosynthetic human growth hormone. Biotechnology and Applied Biochemistry, 9, 478-487.
4. Binder, G. & Ranke, M.B. (1995) Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GM defieciency using ectopic transcript analysis. Journal of Clinical Endocrinology and Metabolism, 80, 1247-1252.
5. Binder, G., Brown, M. & Parks, J.S. (1996) Mechanisms responsible for dominant expression of human growth hormone gene mutations. Journal of Clinical Endocrinology and Metabolism, 81, 4047-4050.
6. Blum, W.F., Albertsson-Wikland, K., Rosberg, S. & Ranke, M.B. (1993) Serum levels ofsulin-like growth factor I (IGF-I) and IGF binding protein 3 (IGFBP-3) reflect spontaneous growth hormone secretion. Journal of Clinical Endocrinology and Metabolism, 76, 1610-1616.
7. Bright, G.M., Rogol, A.D., Johanson, A.J. & Blizzard, R.M. (1983) Short stature associated with normal growth hormone and decreased somatomedin-C concentrations: response to exogenous growth hormone. Pediatrics, 71, 576-580.
8. Cacciari, A., Pirazzoli, P., Gualandi, S., Baroncini, C., Baldazzi, L., Trevisani, B., Capelli, M., Zucchini, S., Balsamo, A., Cicognani, A. & Bernardi, F. (1994) Molecular study of human growth hormone gene cluster in three families with isolated growth hormone deficiency and similar phenotype. European Journal of Pediatrics, 153, 635-641.
9. Carlsson, L.M., Rowland, A.M., Clark, R.G., Gesundheit, N. & Wong, W.L. (1991) Ligand-mediated immunofunctional assay for quantitation of growth hormone-binding protein in human blood. Journal of Clinical Endocrinology and Metabolism, 73, 1216-1223.
10. Chatelain, P., Bouillat, B. & Cohen, R. (1990) Assay of growth hormone levels in human plasma using commercial kits: analysis of some factors influencing the results. Acta Pediatrica Scandinavian, 370 (Suppl.), 56-61.
11. Chomczynski, P. & Sacchi, N. (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Analytical Biochemistry, 162, 156-159.
12. Cunningham, B.C., Mulkerrin, G. & Wells, J.A. (1991) Dimerization of human growth hormone by zinc. Science, 253, 545-548.
13. Dattani, M.T., Hindmarsh, P.C., Brook, C.G.D., Robinson, I.C.A.F., Weir, T. & Marshall, N.J. (1993) Enhancement of growth hormone bioactivity by zinc in the eluted stain assay system. Endocrinology, 133, 2803-2808.
14. Dattani, M.T., Hindmarsh, P.C., Pringle, P.J., Brook, C.G.D. & Marshall, N.J. (1995) The measurement of growth hormone bioactivity in patient serum using an eluted stain assay. Journal of Clinical Endocrinology and Metabolism, 80, 2675-2683.
15. Emoto, N., Tsushima, T. & Shizume, K. (1987) Biological activities of human growth Ohormone and its derivatives estimated by measuring DNA synthesis in Nb2 node rat lymphoma cells. Acta Endocrinologica (Cupenh), 114, 283-291.
16. Frazer, T.E., Gavin, J.R., Daughaday, W.H., Hillman, R.E. & Weldon, V.V. (1982) Growth hormone dependent growth failure. Journal of Pediatrics, 101, 12-15.
17. Illig, R. (1970) Growth Hormone Antibodies in patients treated with different preparations of human growth hormone (hGH). Journal of Clinical Endocrinology and Metabolism, 31, 679-688.
18. Kowarski, A.A., Schneider, J., Ben-Galim, E., Weldon, V.V. & Daughaday, W.H. (1978) Growth failure with normal serum RIA-GH and low somatomedin activity: somatomedin restoration and growth acceleration after exogenous GH. Journal of Clinical Endocrinology and Metabolism, 47, 461-464.
19. Laron, Z. (1995) Prismatic cases: Laron syndrome (primary growth hormone resistance) from patient to laboratory to patient. Journal of Clinical Endocrinology and Metabolism, 80, 2756-2760.
20. Lecomte, C.M., Renard, A. & Martial, J.A. (1987) A new natural hGH variant - 17.5KD - produced by alternative splicing. An additional consensus which might play a role in branch point selection. Nucleic Acids Research, 15, 6331-6348.
21. Lewis, U.J., Sinha, Y.N. & Haro, L.S. (1994) Variant forms and fragments of human growth hormone in serum. Acta Pediatrica Scandinavia, 399 (Suppl.), 29-31.
22. Medeiros-Neto, G., Herodotou, D.T., Rajan, S., Kommareddi, S., de-Lacerda, L., Sandrini, R., Boguszewski, M.C., Hollenberg, A.N., Radovick, S. & Wondisford, F.E. (1996) A circulating, biologically inactive thyreotropin caused by a mutation in the beta subunit gene. Journal of Clinical Investigations, 97, 1250-1256.
23. Plotnick, L.P., Van Meter, Q.L. & Kowarski, A.A. (1983) Human growth hormone treatment of children with growth failure and normal growth hormone levels by immunoassay: lack of correlation with somatomedin generation. Pediatrics, 71, 324-327.
24. Prader, A., Largo, H.R., Molinari, L. & Issler, C. (1989) Physical growth of Swiss children from birth to20 years of age. Helvetia Paediatrica Acta, 52 (Suppl.), 3-31.
25. Rudman, D., Kutner, M.H., Blackston, R.D., Cushman, R.A., Bain, R.P. & Patterson, J.H. (1981) Children with normal-variant short stature: treatment with human growth hormone for six months. New England Journal of Medicine, 305, 123-131.
26. Strasburger, C.J., Wu, Z., Pflaum, C.D. & Dressendorfer, R.A. (1996) Immunofunctional assay of human growth hormone (hGH) in serum: a possible consensus for quantitative hGH measurement. Journal of Clinical Endocrinology and Metabolism, 81, 2613-2620.
27. Takahashi, Y., Shirono, H., Arisaka, O., Takahashi, K., Yagi, T., Koga, J., Kaji, H., Okimura, Y., Abe, H., Tanaka, T. & Chihara, K. (1997) Biologically inactive growth hormone caused by an amino acid substitution. Journal of Clinical Investigations, 100, 1159-1165.
28. Tanaka, T., Shiu, R.P., Gout, P.W., Beer, C.T., Noble, R.L. & Friesen, H.G. (1980) A new sensitive and specific bioassay tor lactogenic hormones: measurement of prolactin and growth hormone in human serum. Journal of Clinical Endocrinology and Metabolism, 51, 1058-1063.
29. Valenta, L.J., Sigel, M.B., Lesniak, M.A., Elias, A.N., Lewis, U.J., Friesen, H.G. & Kershnar, A.K. (1985) Pituitary dwarfism in a patient with circulating abnormal growth hormone polymers. New England Journal of Medicine, 312, 214-217.
30. Weiss, J., Axelrod, L., Whitcomb, R.W., Harris, P.E., Crowley, W.F. & Jameson, J.L. (1992) Hypogonadism caused by a single amino acid substitution in the subunit of luteinizing hormone. New England Journal of Medicine, 326, 179-183.