Endocrine regulation of longitudinal bone growth

Endocrine Development

Volumn 21, Issue , 2011, Pages 30-41

  Wit, Jan M ^a   Camacho Hübner, Cecilia ^b,c  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b KAROLINSKA INSTITUTE   (Sweden)

^c Pfizer Global Pharmaceuticals   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

2',3' CYCLIC NUCLEOTIDE 3' PHOSPHODIESTERASE; ANDROGEN; BRAIN NATRIURETIC PEPTIDE; CORTICOSTEROID; CORTICOTROPIN; ESTROGEN; GROWTH HORMONE; GROWTH HORMONE RECEPTOR; JANUS KINASE 2; LEVOTHYROXINE; MITOGEN ACTIVATED PROTEIN KINASE; RAS PROTEIN; SEX HORMONE; SOMATOMEDIN BINDING PROTEIN; SOMATOMEDIN C; SOS PROTEIN; STAT5 PROTEIN; STAT5A PROTEIN; STAT5B PROTEIN; THYROXINE;

ARTICLE; BONE GROWTH; BONE MATURATION; CARDIOVASCULAR MALFORMATION; CONGENITAL HYPOTHYROIDISM; COSTELLO SYNDROME; DELETION MUTANT; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; ENDOCRINE SYSTEM; GENE DELETION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GRAVES DISEASE; GROWTH DISORDER; GROWTH HORMONE DEFICIENCY; GROWTH RATE; GROWTH RETARDATION; HAPLOINSUFFICIENCY; HASHIMOTO DISEASE; HUMAN; HYPERCORTISOLISM; HYPERTHYROIDISM; HYPOTHYROIDISM; IMMUNE DEFICIENCY; IN VITRO STUDY; INSULIN LIKE GROWTH FACTOR 1 DEFECT; INSULIN LIKE GROWTH FACTOR 1 RECEPTOR DEFECT; INSULIN LIKE GROWTH FACTOR 2 DEFECT; INSULIN LIKE GROWTH FACTOR BINDING PROTEIN, ACID LABILE SUBUNIT DEFECT; LARON SYNDROME; LONG BONE; POSTNATAL GROWTH; PRENATAL GROWTH; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN PHOSPHORYLATION; REGULATORY MECHANISM; SIGNAL TRANSDUCTION; SILVER RUSSELL SYNDROME; TALL STATURE; THYROID DYSGENESIS; THYROID HORMONE RESISTANCE;

ADULT; ANIMALS; BONE DEVELOPMENT; CHILD; ENDOCRINE SYSTEM; GROWTH HORMONE; HORMONES; HUMANS; INSULIN-LIKE GROWTH FACTOR I; MODELS, BIOLOGICAL; SIGNAL TRANSDUCTION;

EID: 84926122920     PISSN: 14217082     EISSN: 16622979     Source Type: Book Series    
DOI: 10.1159/000328119     Document Type: Article

References (31)

1. Murphy VE, Smith R, Giles WB, Clifton VL: Endocrine regulation of human fetal growth: The role of the mother, placenta, and fetus. Endocr Rev 2006;27:141-169.
2. Yakar S, Liu JL, Stannard B, Butler A, Accili D, Sauer B, Leroith D: Normal growth and development in the absence of hepatic insulin-like growth factor I. Proc Natl Acad Sci USA 1999;96:7324-7329. (Pubitemid 29299660)
3. Stratikopoulos E, Szabolcs M, Dragatsis I, Klinakis A, Efstratiadis A: The hormonal action of IGF1 in postnatal mouse growth. Proc Natl Acad Sci USA 2008;105:19378-19383.
4. Wit JM, Kamp GA, Rikken B: Spontaneous growth and response to growth hormone treatment in children with growth hormone deficiency and idiopathic short stature. Pediatr Res 1996;39:295-302. (Pubitemid 26039554)
5. Alatzoglou KS, Dattani MT: Genetic forms of hypopituitarism and their manifestation in the neonatal period. Early Hum Dev 2009;85:705-712.
6. Mehta A, Gevers EF, Dattani MT: Congenital disorders of the hypothalamo-pituitary-somatotrope axis; in Brook CGD, Clayton PE, Brown RS, (eds): Brook's Clinical Pediatric Endocrinology. Oxford, Wiley-Blackwell, 2009, pp 60-105.
7. Savage MO, Attie KM, David A, Metherell LA, Clark AJ, Camacho-Hübner C: Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders. Nat Clin Pract Endocrinol Metab 2006;2:395-407. (Pubitemid 44050109)
8. Rosenfeld RG, Belgorosky A, Camacho-Hubner C, Savage MO, Wit JM, Hwa V: Defects in growth hormone receptor signaling. Trends Endocrinol Metab 2007;18:134-141. (Pubitemid 46629026)
9. Pugliese-Pires P, Tonelli C, Dora JM, Silva P, Czepielewski MA, Simoni G, Arnhold IJ, Jorge A: A novel STAT5b mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings. Eur J Endocrinol 2010;163:349-355.
10. Padidela R, Camacho-Hübner C, Attie KM, Savage MO: Abnormal growth in Noonan syndrome: Genetic and endocrine features and optimal treatment. Horm Res 2008;70:129-136.
11. Wu S, Walenkamp MJ, Lankester A, Bidlingmaier M, Wit JM, De Luca F: Growth hormone and insulin-like growth factor I insensitivity of fibroblasts isolated from a patient with an I{kappa} B{alpha} mutation. J Clin Endocrinol Metab 2010; 95:1220-1228.
12. Woods KA, Camacho-Hubner C, Savage MO, Clark AJ: Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N Engl J Med 1996;335:1363-1367. (Pubitemid 26360455)
13. Walenkamp MJ, Karperien M, Pereira AM, Hilhorst-Hofstee Y, van Doorn J, Chen JW, Mohan S, Denley A, Forbes B, van Duyvenvoorde HA, van Thiel SW, Sluimers CA, Bax JJ, de Laat JA, Breuning MB, Romijn JA, Wit JM: Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation. J Clin Endocrinol Metab 2005;90:2855-2864. (Pubitemid 40686336)
14. Netchine I, Azzi S, Houang M, Seurin D, Perin L, Ricort JM, Daubas C, Legay C, Mester J, Herich R, Godeau F, Le Bouc Y: Partial primary deficiency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain development. J Clin Endocrinol Metab 2009;94:3913-3921.
15. Domene HM, Hwa V, Argente J, Wit JM, Camacho-Hubner C, Jasper HG, Pozo J, van Duyvenvoorde HA, Yakar S, Fofanova-Gambetti OV, Rosenfeld RG: Human acid-labile subunit deficiency: Clinical, endocrine and metabolic consequences. Horm Res 2009;72:129-141.
16. Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D, Pfäffle R, Raile K, Seidel B, Smith RJ, Chernausek SD, Intrauterine Growth Retardation (IUGR) Study Group: IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. N Engl J Med 2003;349:2211-2222. (Pubitemid 37485137)
17. Ester WA, van Duyvenvoorde HA, de Wit CC, Broekman AJ, Ruivenkamp CA, Govaerts LC, Wit JM, Hokken-Koelega AC, Losekoot M: Two short children born small for gestational age with insulinlike growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype. J Clin Endocrinol Metab 2009;94:4717-4727.
18. Murphy R, Baptista J, Holly J, Umpleby AM, Ellard S, Harries LW, Crolla J, Cundy T, Hattersley AT: Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene. J Clin Endocrinol Metab 2008;93:4373-4380. (Pubitemid 352789534)
19. Demars J, Shmela ME, Rossignol S, Okabe J, Netchine I, Azzi S, Cabrol S, Le Caignec C, David A, Le Bouc Y, El Osta A, Gicquel C: Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCTbinding sequences, in patients with 11p15 fetal growth disorders. Hum Mol Genet 2010;19:803-814.
20. Boersma B, Otten BJ, Stoelinga GB, Wit JM: Catchup growth after prolonged hypothyroidism. Eur J Pediatr 1996;155:362-367.
21. Rivkees SA, Bode HH, Crawford JD: Long-term growth in juvenile acquired hypothyroidism: The failure to achieve normal adult stature. N Engl J Med 1988;318:599-602. (Pubitemid 18083591)
22. Burguera B, Muruais C, Penalva A, Dieguez C, Casanueva FF: Dual and selective actions of glucocorticoids upon basal and stimulated growth hormone release in man. Neuroendocrinology 1990;51: 51-58. (Pubitemid 20015604)
23. Metherell LA, Chan LF, Clark AJ: The genetics of ACTH resistance syndromes. Best Pract Res Clin Endocrinol Metab 2006;20:547-560. (Pubitemid 44849159)
24. van der Eerden BC, Karperien M, Wit JM: Systemic and local regulation of the growth plate. Endocr Rev 2003;24:782-801. (Pubitemid 38067699)
25. Oz OK, Millsaps R, Welch R, Birch J, Zerwekh JE: Expression of aromatase in the human growth plate. J Mol Endocrinol 2001;27:249-253. (Pubitemid 32970691)
26. Morishima A, Grumbach MM, Simpson ER, Fisher C, Qin K: Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J Clin Endocrinol Metab 1995;80:3689-3698.
27. Ross JL, Cassorla FG, Skerda MC, Valk IM, Loriaux DL, Cutler GB: A preliminary study of the effect of estrogen dose on growth in Turner's syndrome. N Engl J Med 1983;3:1104-1106. (Pubitemid 13023162)
28. Smith EP, Boyd J, Frank GR, Takahashi H, Cohen RM, Specker B, Williams TC, Lubahn DB, Korach KS: Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. N Engl J Med 1994;331:1056-1061. (Pubitemid 24317698)
29. Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B: Genotypes and phenotypes in children with short stature: Clinical indicators of SHOX haploinsufficiency. J Med Genet 2007;44:306-313. (Pubitemid 46732624)
30. Marchini A, Hacker B, Marttila T, Hesse V, Emons J, Weiss B, Karperien M, Rappold G: BNP is a transcriptional target of the short stature homeobox gene SHOX. Hum Mol Genet 2007;16:3081-3087. (Pubitemid 350131326)
31. Olney RC, Bukulmez H, Bartels CF, Prickett TC, Espiner EA, Potter LR, Warman ML: Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature. J Clin Endocrinol Metab 2006;91:1229-1232.