Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 7, 2005, Pages 4260-4266

  Hwa, Vivian ^a   Little, Brian ^a   Adiyaman, Pelin ^b   Kofoed, Eric M ^a   Pratt, Katherine L ^a   Ocal, Gonul ^b   Berberoglu, Merih ^b   Rosenfeld, Ron G ^a,c,d  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b ANKARA UNIVERSITY   (Turkey)

^c STANFORD UNIVERSITY   (United States)

^d LUCILE PACKARD CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACID; GROWTH HORMONE; GROWTH HORMONE BINDING PROTEIN; NUCLEOTIDE; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C; STAT5B PROTEIN;

ADOLESCENT; ARTICLE; BODY HEIGHT; CASE REPORT; CELL CULTURE; CELL LYSATE; CIRCULATION; DISEASE SEVERITY; DNA SEQUENCE; EXON; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE INSERTION; GENE MUTATION; GROWTH DISORDER; GROWTH HORMONE BLOOD LEVEL; HOMOZYGOSITY; HORMONE RESISTANCE; HUMAN; IMMUNOBLOTTING; INFORMED CONSENT; LABORATORY TEST; PATIENT; PEDIGREE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SEQUENCE ANALYSIS; SKIN FIBROBLAST;

ADOLESCENT; CELLS, CULTURED; DNA-BINDING PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION REGULATION; GROWTH DISORDERS; GROWTH HORMONE; HUMANS; INSULIN-LIKE GROWTH FACTOR I; MILK PROTEINS; STAT5 TRANSCRIPTION FACTOR; TRANS-ACTIVATORS;

EID: 23044470651     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2005-0515     Document Type: Article

References (26)

1. Laron Z, Pertzelan A, Mannheimer S 1966 Genetic pituitary dwarfism with high serum concentration of growth hormone: a new inborn error of metabolism? Isr J Med Sci 2:152-155
2. Godowski PJ, Leung DW, Meacham LR, Galgani JP, Hellmiss R, Keret R, Rotwein PS, Parks JS, Laron Z, Woods WI 1989 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 86:8083-8087
3. Rosenfeld RG, Hwa V 2004 New molecular mechanisms of growth hormone resistance. Eur J Endocrinol 150:1-6
4. Duquesnoy P, Sobrier ML, Duriez B, Dastot F, Buchanan CR, Savage MO, Preece MA, Craescu CT, Blouquit Y, Goossens M, Amselem S 1994 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 13:1386-1395
5. Woods KA, Fraser NC, Postel-Vinay MC, Savage MO, Clark AJ 1996 A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein. J Clin Endocrinol Metab 81:1686-1690
6. Sobrier ML, Dastot F, Duquesnoy P, Kandemir N, Yordam N, Goossens M, Amselem S 1997 Nine novel growth hormone receptor gene mutations in patients with Laron syndrome. J Clin Endocrinol Metab 82:435-437
7. Ayling RM, Ross R, Towner P, Von Laue S, Finidori J, Moutoussamy S, Buchanan CR, Clayton PE, Norman MR 1997 A dominant-negative mutation of the growth hormone receptor causes familial short stature. Nat Genet 16:13-14
8. Iida K, Takahashi Y, Kaji H, Takahashi MO, Okimura Y, Nose O, Abe H, Chihara K 1999 Functional characterization of truncated growth hormone (GH) receptor-(1-277) causing partial GH insensitivity syndrome with high GH-binding protein. J Clin Endocrinol Metab 84:1011-1016
9. Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Hubner C, Savage MO, Bidlingmaier CM, Clark AJL, Ross RJM, Webb SM 2004 Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after Box1, resulting in isolated failure of STAT5 signal transduction. J Clin Endocrinol Metab 89:1259-1266
10. Tiulpakov A, Rubtsov P, Peterkova V, Bezlepkina O, Chrousos GP, Hochberg Z 2005 A novel C-terminal growth hormone receptor (GHR) mutation results in impaired GHR-STAT5 but normal STAT3 signaling. J Clin Endocrinol Metab 90:542-547
11. Woods KA, Camacho-Hubner C, Savage MO, Clark AJ 1996 Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N Engl J Med 335:1363-1367
12. Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D, Pfaffle R, Raile K, Seidel B, Smith RJ, ChernausekSD2003 IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. N Engl J Med 349:2211-2222
13. Kofoed EM, Hwa V, Little B, Woods KA, Buckway CK, Tsubaki J, Pratt KL, Bezrodnik L, Jasper H, Tepper A, Heinrich J, Rosenfeld RG 2003 Growth-hormone insensitivity (GHI) associated with a STAT-5b mutation. N Engl J Med 349:1139-1147
14. Hwa V, Little B, Kofoed EM, Rosenfeld RG 2004 Transcriptional regulation of insulin-like growth factor-I (IGF-I) by interferon-γ(IFN-γ) requires Stat-5b. J Biol Chem 279:2728-2736
15. Udy GB, Towers RP, Snell RG, Wilkins RJ, Park SH, Ram PA, Waxman DJ, Davey HW 1997 Requirement of STAT5b for sexual dimorphism of body growth rates and liver gene expression. Proc Natl Acad Sci USA 94:7239-7244
16. Teglund S, McKay C, Schuetz E, van Deursen JM, Stravopodis D, Wang D, Brown M, Bodner S, Grosveld G, Ihle JN 1998 Stat5a and Stat5b proteins have essential and nonessential, or redundant, roles in cytokine responses. Cell 93:841-850
17. Buckway CK, Guevara-Aguirre J, Pratt KL, Burren CP, Rosenfeld RG 2001 The IGF-I generation test revisited: a marker of GH sensitivity. J Clin Endocrinol Metab 86:5176-5183
18. Ota N, Brett TJ, Murphy TL, Fremont DH, Murphy KM 2004 N-Domain-dependent nonphosphorylated STAT4 dimers required for cytokine-driven activation. Nat Immunol 5:208-215
19. Laron Z, Lilos P, Klinger B 1993 Growth curves for Laron syndrome. Arch Dis Child 68:768-770
20. Rosenfeld RG, Rosenbloom AL, Guevara-Aguirre J 1994 Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr Rev 15:369-390
21. Rowland JE, Lichanska AM, Kerr LM, White M, d'Aniello EM, Maher SL, Brown R, Teasdale RD, Noakes PG, Waters MJ 2005 In vivo analysis of growth hormone receptor signaling domains and their associated transcripts. Mol Cell Biol 25:66-77
22. Rosenfeld RG 2004 Gender differences in height: an evolutionary perspective. J Pediatr Endocrinol Metab 17:1267-1271
23. Lupu F, Terwilliger JD, Lee K, Segre GV, Efstratiadis A 2001 Roles of growth hormone and insulin-like growth factor 1 in mouse postnatal growth. Dev Biol 229:141-162
24. Kawame H, Hannibal MC, Hudgins L, Pagon RA 1999 Phenotype spectrum and management issues in Kabuki syndrome. J Pediatr 134:480-485
25. Rubinstein A, Bernstein LJ, Charytan M, Krieger BZ, Ziprkowski M 1988 Corticosteroid treatment for pulmonary lymphoid hyperplasia in children with the acquired immune deficiency syndrome. Pediatr Pulmonol 4:13-17
26. Nair S, Ghosh K, Kulkarni B, Shetty S, Mohanty D 2002 Glanzmann's thrombasthenia: updated. Platelets 13:387-393