Short stature and decreased insulin-like growth factor I (IGF-I)/growth hormone (GH)-ratio in an adult GH-deficient patient pointing to additional partial GH insensitivity due to a R179C mutation of the growth hormone receptor

Growth Hormone and IGF Research

Volumn 17, Issue 4, 2007, Pages 307-314

  Meyer, S ^a   Ipek, M ^a   Keth, A ^a   Minnemann, T ^b   von Mach, M A ^b   Weise, A ^c   Ittner, J R ^d   Nawroth, P P ^e   Plockinger U ^f   Stalla, G K ^g   Tuschy, U ^h   Weber, M M ^b   Kann, P H ^a  

^a UNIVERSITY HOSPITAL MARBURG   (Germany)

^b UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^c Institute for Clinical Research and Development   (Germany)

^d Center for Endocrinology   (Germany)

^e UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^f CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^g MAX PLANCK INSTITUTE OF PSYCHIATRY   (Germany)

^h HELIOS KLINIKUM ERFURT   (Germany)

Author keywords

Growth hormone (GH); Growth hormone deficiency (GHD); Growth hormone insensitivity (GHI); Growth hormone receptor (GHR); Mutation; Short stature

Indexed keywords

ARGININE; CYSTEINE; GROWTH HORMONE; GROWTH HORMONE RECEPTOR; SOMATOMEDIN C;

5' UNTRANSLATED REGION; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CODON; CONTROLLED STUDY; ENDOCRINE FUNCTION TEST; EXON; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GROWTH HORMONE BLOOD LEVEL; GROWTH HORMONE DEFICIENCY; HETEROZYGOSITY; HORMONE RESISTANCE; HUMAN; HYPOPHYSIS ADENOMA; LARON SYNDROME; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SHORT STATURE; STEREOTAXIC SURGERY; TRANSSPHENOIDAL HYPOPHYSECTOMY;

ADULT; AGE OF ONSET; AMINO ACID SUBSTITUTION; ARGININE; BODY HEIGHT; CYSTEINE; FEMALE; GENOTYPE; GROWTH DISORDERS; HUMAN GROWTH HORMONE; HUMANS; INSULIN-LIKE GROWTH FACTOR I; LARON SYNDROME; MALE; MIDDLE AGED; POINT MUTATION; RECEPTORS, SOMATOTROPIN;

EID: 34547146354     PISSN: 10966374     EISSN: 15322238     Source Type: Journal    
DOI: 10.1016/j.ghir.2007.03.001     Document Type: Article

References (29)

1. Gent J., van Kerkhof P., Roza M., Bu G., and Strous G. Growth hormone receptor dimerization occurs in the endoplasmic reticulum and is essential for ubiquitin-system dependent endocytosis. Proc. Natl. Acad. Sci. USA 99 (2002) 9858-9863
2. Gent J., van den Eijnden M., van Kerkhof P., and Strous G.J. Dimerization and signal transduction of the growth hormone receptor. Mol. Endocrinol. 17 (2003) 967-975
3. Lee J., and Menon R.K. Molecular defects in the growth hormone - IGF axis. Indian. J. Pediatr. 72 (2005) 145-148
4. Götherstrom G., Svensson J., Koranyi J., et al. A prospective study of 5 years of GH replacement therapy in GH deficient adults: sustained effects on body composition, bone mass and metabolic indices. J. Clin. Endocrinol. Metab. 86 (2001) 4657-4665
5. Rosen T., Wilhelmsen L., and Bengtsson B.A. Altered lipid pattern explains increased cardiovascular mortality in hypopituitary patients with growth hormone deficiency. Clin. Endocrinol. (Oxf) 48 (1998) 525-527
6. Walleymahmed M.E., Foy P., Shaw D., Hutcheon R., Edwards R.H.T., and MacFarlane I.A. Quality of life, body composition and muscle strength in adult growth hormone deficiency: the influence of growth hormone replacement therapy for up to 3 years. Clin. Endocrinol. (Oxf) 48 (1997) 613-620
7. Kamboj M. Short stature and growth hormone. Indian. J. Pediatr. 72 (2005) 149-157
8. Molitch M.E., Clemmons D.R., Malozowski S., Merriam G.R., Shalet S.M., and Vance M.L. Evaluation and treatment of adult growth hormone deficiency: an endocrine society clinical practice guideline. J. Clin. Endocrinol. Metab. 91 (2006) 1621-1634
9. Edens A., and Talamantes F. Alternative processing of growth hormone receptor transcripts. Endocr. Rev. 19 (1998) 559-582
10. Godowski P.J., Leung D.W., Meacham L.R., et al. Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism. Proc. Natl. Acad. Sci. USA 86 (1989) 8083-8087
11. Miller S.A., Dykes D.D., and Polesky H.F. A simple salt out procedure for extracting DNA from human nucleated cells. Nucleid Acids Res. 16 (1988) 1215
12. Savage M.O., and Rosenfeld R.G. Growth hormone insensitivity: a proposed revised classification. Acta Paediatr. Suppl. 428 (1999) 147
13. Laron Z., Pertzelan A., and Mannheimer S. Genetic pituitary dwarfism with high serum concentration of growth hormone: a new inborn error of metabolism?. Isr. J. Med. Sci. 2 (1966) 152-155
14. Amselem S., Duquesnoy P., Duriez B., et al. Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome. Hum. Mol. Genet. 2 (1993) 355-359
15. Berg M.A., Argente J., Chernausek S., et al. Diverse growth hormone receptor gene mutations in Laron syndrome. Am. J. Hum. Genet. 52 (1993) 998-1005
16. Burren C.P., Woods K.A., Rose S.J., et al. Clinical and endocrine characteristics in atypical and classical growth hormone insensitivity syndrome. Horm. Res. 55 (2001) 125-130
17. Clayton P.E., Freeth J.S., and Norman M.R. Congenital growth hormone insensitivity syndromes and their relevance to idiopathic short stature. Clin. Endocrinol. 50 (1999) 275-283
18. Goddard A.D., Covello R., Luoh S.-M., et al. Mutations of the growth hormone receptor in children with idiopathic short stature. N. Engl. J. Med. 333 (1995) 1093-1098
19. Savage M.O., Burren C.P., Blair J.C., et al. Clinical variation and future perspectives. Horm. Res. 55 Suppl. 2 (2001) 32-35
20. Savage M.O., Blair J.C., and Clark A.J.L. Update in growth hormone insensitivity syndrome. Curr. Opin. Endocrinol. Diabetes 9 (2002) 21-25
21. Behncken S.N., and Waters M.J. Molecular recognition events involved in the activation of the growth hormone receptor by growth hormone. J. Mol. Recognit. 12 (1999) 355-362
22. Maamra M., Milward A., Esfahani H.Z., et al. J. Endocrinol. 188 (2006) 251-261
23. Duquesnoy P., Sobrier M.L., Duriez B., et al. A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization. EMBO J. 13 (1994) 1386-1395
24. Zhang Y., Jiang J., Kopchick J.J., and Frank S.J. Disulfide linkage of growth hormone (GH) receptors (GHR) reflects GH-induced GHR dimerization. Association of JAK2 with the GHR is enhanced by receptor dimerization. J. Biol. Chem. 274 (1999) 33072-33084
25. Lisset C.A., and Shalet S.M. The insulin-like growth factor-I generation test: peripheral responsiveness to growth hormone is not decreased with ageing. Clin. Endocrinol. 58 (2003) 238-245
26. Savage M.O., Blair J.C., Jorge A.J., Street M.E., Ranke M.B., and Camacho-Hubner C. IGFs and IGFBPs in GH insensitivity. Endocrinol. Dev. 9 (2005) 100-106
27. Jorge A.A., Souza S.C., Arnhold I.J., and Mendonca B.B. Poor reproducibility of IGF-I and IGF binding protein-3 generation test in children with short stature and normal coding region of the GH receptor gene. J. Clin. Endocrinol. Metab. 87 (2002) 466-468
28. Selva K.A., Buckway C.K., Sexton G., et al. Reproducibility in patterns of IGF generation with special reference to idiopathic short stature. Horm. Res. 60 (2003) 237-246
29. Blair J.C., Camacho-Hubner C., Miraki Moud F., et al. Standard and low-dose IGF-I generation tests and spontaneous growth hormone secretion in children with idiopathic short stature. Clin. Endocrinol. (Oxf) 60 (2004) 163-168