Growth hormone deficiency: diagnosis and therapy in children

References

• Dattani M, Preece M. Growth hormone deficiency and related disorders: insights into causation, diagnosis, and treatment. Lancet363, 1977–1987 (2004).
   PubMedGoogle Scholar
• Reiter EO, Rosenfeld RG. Normal and aberrant growth. In: Williams Textbook of Endocrinology (11 Edition). Kronenberg HM, Melmed S, Polonsky KS, Larsen PR (Eds). Saunders Elsevier, PA, USA 849–968 (2008).
   Google Scholar
• Hernández LM, Lee PD, Camacho-Hübner C. Isolated growth hormone deficiency. Pituitary10, 351–357 (2007).
   PubMed Web of Science ®Google Scholar
• Rapaport R, Bowlby DA. Clinical aspects of growth and growth disorders. In: Pediatric Endocrinology. Mechanisms, Manifestations, and Management. Pescovitz OH and Eugster EA (Eds). Lippincott Williams & Wilkins, PA, USA 178 (2004).
   Google Scholar
• Rocha MG, Marchisotti FG, Osório MG et al. High prevalence of pituitary magnetic resonance abnormalities and gene mutations in a cohort of Brazilian children with growth hormone deficiency and response to treatment. J. Pediatr. Endocrinol. Metab.21, 673–680 (2008).
   PubMedGoogle Scholar
• Schwartz LJ, St Louis Y, Wu R, Wiznia A, Rubinstein A, Saenger P. Endocrine function in children with human immunodeficiency virus infection. Amer. J. Dis. Child.145, 330–333 (1991).
   PubMedGoogle Scholar
• Jospe N, Powell KR. Growth hormone deficiency in an 8-year-old girl with human immunodeficiency virus infection. Pediatrics86, 309–312 (1990).
   PubMedGoogle Scholar
• Darzy KH, Shalet SM. Hypopituitarism following radiotherapy. Pituitary12, 40–50 (2009).
   PubMed Web of Science ®Google Scholar
• De Bellis A, Colao A, Tirelli G et al. Autoimmunity as a possible cause of growth hormone deficiency. J. Endocrinol. Invest.31, 1132–1134 (2008).
   PubMedGoogle Scholar
• GH Research Society. Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. J. Clin. Endocrinol. Metab.85, 3990–3993 (2000).
   PubMed Web of Science ®Google Scholar
• Badaru A, Wilson DM. Alternatives to growth hormone stimulation testing in children. Trends Endocrinol. Metab.15, 252–258 (2004).
   PubMedGoogle Scholar
• Högler W, Shaw N. Childhood growth hormone deficiency, bone density, structures and fractures: scrutinizing the evidence. Clin. Endocrinol. (Oxf.) DOI: 10.1111/j.1365-2265.2009.03686.x (2009) (Epub ahead of print).
   PubMedGoogle Scholar
• Pagani S, Meazza C, Travaglino P, Moretta A, Bozzola M. Effect of growth hormone therapy on the proinflammatory cytokine profile in growth hormone-deficient children. Eur. Cytokine Netw.16, 65–69 (2005).
   PubMedGoogle Scholar
• Pagani S, Meazza C, Travaglino P, De Benedetti F, Tinelli C, Bozzola M. Serum cytokine levels in GH-deficient children during substitutive GH therapy. Eur. J. Endocrinol.152, 207–210 (2005).
   PubMedGoogle Scholar
• Lanes R, Soros A, Gunczler P et al. Growth hormone deficiency, low levels of adiponectin, and unfavorable plasma lipid and lipoproteins. J. Pediatr.149, 324–329 (2006).
   PubMedGoogle Scholar
• Greulich WW, Pyle SI. Radiographic Atlas of Skeletal Development of the Hand and Wrist (2nd Edition). Stanford University Press, CA, USA (1959).
   Google Scholar
• Tanner JM, Whitehouse RH, Cameron N, Marshall WA, Healy MJR, Godstein H. Assessment of Skeletal Maturation and Prediction of Adult Height (TW2 Method). New York Academic Press, NY, USA (1983).
   Google Scholar
• Obara-Moszynska M, Kedzia A, Korman E, Niedziela M. Usefulness of growth hormone (GH) stimulation tests and IGF-I concentration measurement in GH deficiency diagnosis. J. Pediatr. Endocrinol. Metab.21, 569–579 (2008).
   PubMedGoogle Scholar
• Chaler EA, Rivarola MA, Guerci B et al. Differences in serum GH cut-off values for pharmacological tests of GH secretion depend on the serum GH method. Clinical validation from the growth velocity score during the first year of treatment. Horm. Res.66, 231–235 (2006).
   PubMedGoogle Scholar
• Corneli G, Di Somma C, Baldelli R et al. The cut-off limits of the GH response to GH-releasing hormone-arginine test related to body mass index. Eur. J. Endocrinol.153, 257–264 (2005).
   PubMed Web of Science ®Google Scholar
• Richmond EJ, Rogol AD. Growth hormone deficiency in children. Pituitary11, 115–120 (2008).
   PubMed Web of Science ®Google Scholar
• Popii V, Baumann G. Laboratory measurement of growth hormone. Clin. Chim. Acta350, 1–16 (2004).
   PubMed Web of Science ®Google Scholar
• Tenenbaum-Rakover Y. The need to revise the cut-off level for the diagnosis of GH deficiency in children. Pediatr. Endocrinol. Rev.5, 880–888 (2008).
   PubMedGoogle Scholar
• Corneli G, Di Somma C, Baldelli R et al. The cut-off limits of the GH response to GH-releasing hormone-arginine test related to body mass index. Eur. J. Endocrinol.153, 257–264 (2005).
   PubMed Web of Science ®Google Scholar
• Gil-Ad I, Topper E, Laron Z. Oral clonidine as a growth hormone stimulation test. Lancet2, 278–279 (1979).
   PubMedGoogle Scholar
• Gasco V, Corneli G, Beccuti G et al. Retesting the childhood-onset GH-deficient patient. Eur. J. Endocrinol.159, S45–S52 (2008).
   Google Scholar
• Mazzola A, Meazza C, Travaglino P et al. Unreliability of classic provocative tests for the diagnosis of growth hormone deficiency. J. Endocrinol. Invest.31, 159–162 (2008).
   PubMedGoogle Scholar
• Molina S, Paoli M, Camacho N, Arata-Bellabarba G, Lanes R. Is testosterone and estrogen priming prior to clonidine useful in the evaluation of the growth hormone status of short peripubertal children? J. Pediatr. Endocrinol. Metab.21, 257–266 (2008).
   PubMed Web of Science ®Google Scholar
• Haghshenas Z, Sotoudeh K, Karamifar H, Karamizadeh Z, Amirhakimi G. The role of insulin like growth factor (IGF)-1 and IGF-binding protein-3 in diagnosis of growth hormone deficiency in short stature children. Indian J. Pediatr. DOI: 10.1007/s12098–009–0115–0110 (2009) (Epub ahead of print).
   PubMedGoogle Scholar
• Eliakim A, Nemet D. Exercise provocation test for growth hormone secretion: methodologic considerations. Pediatr. Exerc. Sci.20, 370–378 (2008).
   PubMedGoogle Scholar
• Blethen SL, Baptista J, Kuntze J, Foley T, LaFranchi S, Johanson A. Adult height in growth hormone (GH)-deficient children treated with biosynthetic GH. The Genentech Growth study group. J. Clin. Endocrinol. Metab.82, 418–420 (1997).
   PubMed Web of Science ®Google Scholar
• Rapaport R, Mugnier E, Limoni C et al. The French Serono study group. A 5-year prospective study of growth hormone (GH)-deficient children treated with GH before the age of 3 years. J. Clin. Endocrinol. Metab.82, 452–456 (1997).
   PubMedGoogle Scholar
• Frasier SD. Human pituitary growth hormone (hGH) therapy in growth hormone deficiency. Endocr. Rev.4, 155–170 (1983).
   PubMed Web of Science ®Google Scholar
• Walvoord EC, de la Peña A, Park S et al. Inhaled growth hormone (GH) compared with subcutaneous GH in children with GH deficiency: pharmacokinetics, pharmacodynamics, and safety. J. Clin. Endocrinol. Metab.94, 2052–2059 (2009).
   PubMed Web of Science ®Google Scholar
• Park P, Cohen P. The role of insulin-like growth factor I monitoring in growth hormone-treated children. Horm. Res.62(Suppl. 1), 59–65 (2004).
   PubMedGoogle Scholar
• Cutfield WS, Lundgren F. Insulin-like growth factor I and growth responses during the first year of growth hormone treatment in KIGS patients with idiopathic growth hormone deficiency, acquired growth hormone deficiency, turner syndrome and born small for gestational age. Horm. Res.71, 39–45 (2009).
   PubMedGoogle Scholar
• Cuttler L, Silvers JB, Singh J, Tsai AC, Radcliffe D. Physician decisions to discontinue long-term medications using a two-stage framework: the case of growth hormone therapy. Med. Care43, 1185–1193 (2005).
   PubMedGoogle Scholar
• Kriström B, Dahlgren J, Niklasson A, Nierop AF, Albertsson-Wikland K. The first-year growth response to growth hormone treatment predicts the long-term prepubertal growth response in children. BMC Med. Inform. Decis. Mak.9, 1 (2009).
   PubMedGoogle Scholar
• Hardin DS, Kemp SF, Allen DB. Twenty years of recombinant human growth hormone in children: relevance to pediatric care providers. Clin. Pediatr. (Phila.)46, 279–286 (2007).
   PubMed Web of Science ®Google Scholar
• Jorge AA, Arnhold IJ. Growth hormone receptor exon 3 isoforms and their implication in growth disorders and treatment. Horm. Res.71, 55–63 (2009).
   PubMedGoogle Scholar
• Jorge AA, Marchisotti FG, Montenegro LR et al. Growth hormone (GH) pharmacogenetics: influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency. J. Clin. Endocrinol. Metab.91, 1076–1080 (2006).
   PubMed Web of Science ®Google Scholar
• Dos Santos C, Essioux L, Teinturier C, Tauber M, Goffin V, Bougnères P. A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone. Nat. Genet.36, 720–724 (2004).
   PubMed Web of Science ®Google Scholar
• Räz B, Janner M, Petkovic V et al. Influence of growth hormone (GH) receptor deletion of exon 3 and full-length isoforms on GH response and final height in patients with severe GH deficiency. J. Clin. Endocrinol. Metab.93, 974–980 (2008).
   PubMedGoogle Scholar
• Pilotta A, Mella P, Filisetti M et al. Common polymorphisms of the growth hormone (GH) receptor do not correlate with the growth response to exogenous recombinant human GH in GH-deficient children. J. Clin. Endocrinol. Metab.91, 1178–1180 (2006).
   PubMedGoogle Scholar
• Blum WF, Machinis K, Shavrikova EP et al. The growth response to growth hormone (GH) treatment in children with isolated GH deficiency is independent of the presence of the exon 3-minus isoform of the GH receptor. J. Clin. Endocrinol. Metab.91, 4171–4174 (2006).
   PubMedGoogle Scholar
• Wan L, Chen WC, Tsai Y et al. Growth Hormone (GH) receptor C.1319 G>T polymorphism, but not exon 3 retention or deletion is associated with better first-year growth response to GH therapy in patients with GH deficiency. Pediatr. Res.62, 735–740 (2007).
   PubMedGoogle Scholar
• Buzi F, Mella P, Pilotta A, Prandi E, Lanfranchi F, Carapella T. Growth hormone receptor polymorphisms. Endocr. Dev.11, 28–35 (2007).
   PubMedGoogle Scholar
• Kemp SF, Kuntze J, Attie KM et al. Efficacy and safety results of long-term growth hormone treatment of idiopathic short stature. J. Clin. Endocrinol. Metab.90, 5247–5253 (2005).
   PubMed Web of Science ®Google Scholar
• Bolar K, Hoffman AR, Maneatis T, Lippe B. Long-term safety of recombinant human growth hormone in Turner syndrome. J. Clin. Endocrinol. Metab.93, 344–351 (2008).
   PubMedGoogle Scholar
• Fillion M, Deal C, Van Vliet G. Retrospective study of the potential benefits and adverse events during growth hormone treatment in children with Prader-Willi syndrome. J. Pediatr.154, 230–233 (2009).
   PubMedGoogle Scholar
• Hardin DS, Woo J, Butsch R, Huett B. Current prescribing practices and opinions about growth hormone therapy: results of a nationwide survey of paediatric endocrinologists. Clin. Endocrinol. (Oxf.)66, 85–94 (2007).
   PubMed Web of Science ®Google Scholar
• Gasco V, Corneli G, Beccuti G et al. Retesting the childhood-onset GH-deficient patient. Eur. J. Endocrinol.159, S45–S52 (2008).
   Google Scholar
• Mullis PE, Deladoëy J, Dannies PS. Molecular and cellular basis of isolated dominant-negative growth hormone deficiency, IGHD type II: insights on the secretory pathway of peptide hormones. Horm. Res.58, 53–66 (2002).
   PubMedGoogle Scholar
• Cogan JD, Phillips JA 3rd, Sakati N, Frisch H, Schober E, Milner RD. Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. J. Clin. Endocrinol. Metab.76, 1224–1228 (1993).
   PubMedGoogle Scholar
• Procter AM, Phillips JA 3rd, Cooper DN. The molecular genetics of growth hormone deficiency. Hum. Genet.103, 255–272 (1998).
   PubMed Web of Science ®Google Scholar
• Fleisher TA, White RM, Broder S et al. X-linked hypogammaglobulinemia and isolated growth hormone deficiency. N. Engl. J. Med.302, 1429–1434 (1980).
   PubMed Web of Science ®Google Scholar
• Laumonnier F, Ronce N, Hamel BC et al. Trascription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am. J. Hum. Genet.71, 1450–1455 (2002).
   PubMed Web of Science ®Google Scholar
• Parks JS, Brown MR, Hurley DL, Phelps CJ, Wajnrajch MP. Heritable disorders of pituitary development. J. Clin. Endocrinol. Metab.84, 4362–4370 (1999).
   PubMed Web of Science ®Google Scholar
• Turton JP, Reynaud R, Mehta A et al. Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. J. Clin. Endocrinol. Metab.90, 4762–4770 (2005).
   PubMed Web of Science ®Google Scholar
• Dattani MT, Martinez-Barbera JP, Thomas PQ et al.HESX1: a novel gene implicated in a familial form of septo-optic dysplasia. Acta Paediatr. Suppl.88, 49–54 (1999).
   PubMedGoogle Scholar
• Netchine I, Sobrier ML, Krude H et al. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nat. Genet.25, 182–186 (2000).
   PubMed Web of Science ®Google Scholar
• Machinis K, Pantel J, Netchine I et al. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Am. J. Hum. Genet.69, 961–968 (2001).
   PubMed Web of Science ®Google Scholar
• Carrascosa A, Esteban C, Espadero R et al. The d3/fl-growth hormone (GH) receptor polymorphism does not influence the effect of GH treatment (66 microg/kg per day) or the spontaneous growth in short non-GH-deficient small-for-gestational-age children: results from a two-year controlled prospective study in 170 Spanish patients. J. Clin. Endocrinol. Metab.91, 3281–3286 (2006).
   PubMedGoogle Scholar
• Binder G, Baur F, Schweizer R, Ranke MB. The d3-growth hormone (GH) receptor polymorphism is associated with increased responsiveness to GH in Turner syndrome and short small-for-gestational-age children. J. Clin. Endocrinol. Metab.91, 659–664 (2006).
   PubMedGoogle Scholar
• Toyoshima MT, Castroneves LA, Costalonga EF, Mendonca BB, Arnhold IJ, Jorge AA. Exon 3-deleted genotype of growth hormone receptor (GHRd3) positively influences IGF-1 increase at generation test in children with idiopathic short stature. Clin. Endocrinol. (Oxf.)67, 500–504 (2007).
   PubMedGoogle Scholar
• Binder G, Trebar B, Baur F, Schweizer R, Ranke MB. Homozygosity of the d3-growth hormone receptor polymorphism is associated with a high total effect of GH on growth and a low BMI in girls with Turner syndrome. Clin. Endocrinol. (Oxf.)68, 567–572 (2008).
   PubMedGoogle Scholar
• Carrascosa A, Audí L, Fernández-Cancio M et al. The exon 3-deleted/full-length growth hormone receptor polymorphism did not influence growth response to growth hormone therapy over two years in prepubertal short children born at term with adequate weight and length for gestational age. J. Clin. Endocrinol. Metab.93, 764–770 (2008).
   PubMed Web of Science ®Google Scholar
• Marchisotti FG, Jorge AA, Montenegro LR et al. Comparison between weight-based and IGF-I-based growth hormone (GH) dosing in the treatment of children with GH deficiency and influence of exon 3 deleted GH receptor variant. Growth Horm. IGF Res.19, 179–186 (2009).
   PubMedGoogle Scholar
• Ko JM, Park JY, Yoo HW. Common exon 3 polymorphism of the GH receptor (GHR) gene and effect of GH therapy on growth in Korean children with idiopathic short stature (ISS). Clin. Endocrinol. (Oxf.)70, 82–87 (2009).
   PubMed Web of Science ®Google Scholar