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Erschienen in: Reviews in Endocrine and Metabolic Disorders 1/2021

06.10.2020

The continuum between GH deficiency and GH insensitivity in children

verfasst von: Martin O. Savage, Helen L. Storr, Philippe F. Backeljauw

Erschienen in: Reviews in Endocrine and Metabolic Disorders | Ausgabe 1/2021

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Abstract

The continuum of growth hormone (GH)-IGF-I axis defects extends from severe to mild GH deficiency, through short stature disorders of undefined aetiology, to GH insensitivity disorders which can also be mild or severe. This group of defects comprises a spectrum of endocrine, biochemical, phenotypic and genetic abnormalities. The extreme cases are generally easily diagnosed because they conform to well-studied phenotypes with recognised biochemical features. The milder cases of both GH deficiency and GH insensitivity are less well defined and also overlap with the group of short stature conditions, labelled as idiopathic short stature (ISS). In this review the continuum model, which plots GH sensitivity against GH secretion, will be discussed. Defects causing GH deficiency and GH insensitivity will be described, together with the use of a diagnostic algorithm, designed to aid investigation and categorisation of these defects. The continuum will also be discussed in the context of growth-promoting endocrine therapy.
Literatur
1.
Zurück zum Zitat Collett-Solberg PF, Ambler G, Backeljauw PF, Bidlingmaier M, Biller BMK, Boguszewski MCS, et al. Diagnosis, genetics and therapy of short stature in children: a growth hormone research society international perspective. Horm Res Paediatr. 2019;92:1–14.PubMedCrossRef Collett-Solberg PF, Ambler G, Backeljauw PF, Bidlingmaier M, Biller BMK, Boguszewski MCS, et al. Diagnosis, genetics and therapy of short stature in children: a growth hormone research society international perspective. Horm Res Paediatr. 2019;92:1–14.PubMedCrossRef
2.
Zurück zum Zitat Storr HL, Chatterjee S, Foley C, Metherell LA, Backeljauw PF, Rosenfeld RG, et al. Non-classical growth hormone insensitivity (GHI): Characterization of mild abnormalities of GH action. Endocr Rev. 2019;40:475–505.CrossRef Storr HL, Chatterjee S, Foley C, Metherell LA, Backeljauw PF, Rosenfeld RG, et al. Non-classical growth hormone insensitivity (GHI): Characterization of mild abnormalities of GH action. Endocr Rev. 2019;40:475–505.CrossRef
3.
Zurück zum Zitat Cohen P. Problems with reclassification of insulin-like growth factor-I production and action disorders. J Clin Endocrinol Metab. 2006;91:4235–6.PubMedCrossRef Cohen P. Problems with reclassification of insulin-like growth factor-I production and action disorders. J Clin Endocrinol Metab. 2006;91:4235–6.PubMedCrossRef
4.
Zurück zum Zitat Rosenfeld RG. Insulin-like growth factors and the basis of growth. New Eng J Med. 2003;349:2184–6.PubMedCrossRef Rosenfeld RG. Insulin-like growth factors and the basis of growth. New Eng J Med. 2003;349:2184–6.PubMedCrossRef
5.
Zurück zum Zitat Savage MO, Burren CP, Rosenfeld RG. The continuum of growth hormone-IGF-I axis defects causing short stature: diagnostic and therapeutic challenges. Clin Endocrinol. 2010;72:721–8.CrossRef Savage MO, Burren CP, Rosenfeld RG. The continuum of growth hormone-IGF-I axis defects causing short stature: diagnostic and therapeutic challenges. Clin Endocrinol. 2010;72:721–8.CrossRef
6.
7.
Zurück zum Zitat Wit JM, Clayton PE, Rogol AD, Savage MO, Cohen P. Idiopathic short stature: definition, epidemiology, and diagnostic evaluation. Growth Hormon IGF Res. 2008;18:89–110.CrossRef Wit JM, Clayton PE, Rogol AD, Savage MO, Cohen P. Idiopathic short stature: definition, epidemiology, and diagnostic evaluation. Growth Hormon IGF Res. 2008;18:89–110.CrossRef
8.
Zurück zum Zitat Growth Hormone 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. 2000;85:3990–3. Growth Hormone 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. 2000;85:3990–3.
10.
Zurück zum Zitat Maghnie M, Rossi A, di Iorgi N, Gastaldi R, Tortori-Donati P, Lorini R. Hypothalamic-pituitary magnetic resonance imaging in growth hormone deficiency. Expert Rev Endocrinol Metab. 2006;1:413–23.PubMedCrossRef Maghnie M, Rossi A, di Iorgi N, Gastaldi R, Tortori-Donati P, Lorini R. Hypothalamic-pituitary magnetic resonance imaging in growth hormone deficiency. Expert Rev Endocrinol Metab. 2006;1:413–23.PubMedCrossRef
11.
Zurück zum Zitat Ranke MB, Wit JM. Growth hormone – past present and future. Nat Rev Endocrinol. 2018;14:285–300.PubMedCrossRef Ranke MB, Wit JM. Growth hormone – past present and future. Nat Rev Endocrinol. 2018;14:285–300.PubMedCrossRef
12.
Zurück zum Zitat Roth J, Glick SM, Yalow RS, Berson SA. Hypoglycaemia: a potent stimulus to secretion of human growth hormone. Science. 1963;140:987–8.PubMedCrossRef Roth J, Glick SM, Yalow RS, Berson SA. Hypoglycaemia: a potent stimulus to secretion of human growth hormone. Science. 1963;140:987–8.PubMedCrossRef
13.
Zurück zum Zitat Wagner IV, Paetzold C, Gausche R, Vogel M, Loerner A, Thiery J, et al. Clinical evidence-based cut-off limits for GH stimulation tests in children with a back-up of results with reference to mass spectrometry. Eur J Endocrinol. 2014;171:389–97.PubMedCrossRef Wagner IV, Paetzold C, Gausche R, Vogel M, Loerner A, Thiery J, et al. Clinical evidence-based cut-off limits for GH stimulation tests in children with a back-up of results with reference to mass spectrometry. Eur J Endocrinol. 2014;171:389–97.PubMedCrossRef
14.
Zurück zum Zitat Grimberg A, DiVall SA, Polychronakos C, Allen DB, Cohen LE, Quintos JB, et al. Guidelines for growth hormone and insulin-like growth factor-I treatment in children and adolescents: growth hormone deficiency, idiopathic short stature, and primary insulin-like growth factor-I deficiency. Horm Res Pediatr. 2016;86:361–97.CrossRef Grimberg A, DiVall SA, Polychronakos C, Allen DB, Cohen LE, Quintos JB, et al. Guidelines for growth hormone and insulin-like growth factor-I treatment in children and adolescents: growth hormone deficiency, idiopathic short stature, and primary insulin-like growth factor-I deficiency. Horm Res Pediatr. 2016;86:361–97.CrossRef
15.
Zurück zum Zitat Blum WF, Alherbish A, Alsagheir A, El Awwa A, Kaplan W, Koledova E, et al. The growth hormone-insulin-like growth factor-I axis in the diagnosis and treatment of growth disorders. Endocr Conn. 2018;7:R212–22.CrossRef Blum WF, Alherbish A, Alsagheir A, El Awwa A, Kaplan W, Koledova E, et al. The growth hormone-insulin-like growth factor-I axis in the diagnosis and treatment of growth disorders. Endocr Conn. 2018;7:R212–22.CrossRef
16.
Zurück zum Zitat Deal C, Hasselmann C, Pfäffle RW, Zimmermann AG, Quigley CA, Child CJ, et al. Associations between pituitary imaging abnormalities and clinical and biochemical phenotypes in children with congenital growth hormone deficiency: data from an international observational study. Horm Res Paediatr. 2013;79:283–92.PubMedCrossRef Deal C, Hasselmann C, Pfäffle RW, Zimmermann AG, Quigley CA, Child CJ, et al. Associations between pituitary imaging abnormalities and clinical and biochemical phenotypes in children with congenital growth hormone deficiency: data from an international observational study. Horm Res Paediatr. 2013;79:283–92.PubMedCrossRef
17.
Zurück zum Zitat Cohen RAD, Deal CL, Saenger P, Reiter EO, Ross J, et al. Consensus Statement on Diagnosis and Treatment of Children with Idiopathic Short Stature. A Summary of the GRS/LWPES/ESPE Workshop. J Clin Endocrinol Metab. 2008;93:4210–7.PubMedCrossRef Cohen RAD, Deal CL, Saenger P, Reiter EO, Ross J, et al. Consensus Statement on Diagnosis and Treatment of Children with Idiopathic Short Stature. A Summary of the GRS/LWPES/ESPE Workshop. J Clin Endocrinol Metab. 2008;93:4210–7.PubMedCrossRef
18.
Zurück zum Zitat Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, et al. Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genet Med. 2018;20:630–8.PubMedCrossRef Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, et al. Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genet Med. 2018;20:630–8.PubMedCrossRef
19.
Zurück zum Zitat Dauber A. Genetic testing for the child with short stature – has the time come to change our diagnostic paradigm? J Clin Endocrinol Metab. 2019;104:2766–9.PubMedCrossRef Dauber A. Genetic testing for the child with short stature – has the time come to change our diagnostic paradigm? J Clin Endocrinol Metab. 2019;104:2766–9.PubMedCrossRef
20.
Zurück zum Zitat Dassa Y, Crosnier H, Chevignard M, Viaud M, Personnier C, Fletchner I, et al. Pituitary deficiency and precocious puberty after childhood severe traumatic brain injury: a long-term follow-up prospective study. Eur J Endocrinol. 2019;180:281–90.PubMedCrossRef Dassa Y, Crosnier H, Chevignard M, Viaud M, Personnier C, Fletchner I, et al. Pituitary deficiency and precocious puberty after childhood severe traumatic brain injury: a long-term follow-up prospective study. Eur J Endocrinol. 2019;180:281–90.PubMedCrossRef
21.
Zurück zum Zitat Attie KM, Carlsson LM, Rundle AC, Sherman BM. Evidence for partial growth hormone insensitivity among patients with idiopathic short stature. The National Cooperative Growth Study. J Pediatr. 1995;127:244–50.PubMedCrossRef Attie KM, Carlsson LM, Rundle AC, Sherman BM. Evidence for partial growth hormone insensitivity among patients with idiopathic short stature. The National Cooperative Growth Study. J Pediatr. 1995;127:244–50.PubMedCrossRef
22.
Zurück zum Zitat Sjoberg M, Salazar T, Espinosa C, Dagnino A, Avila A, Eggers M, et al. Study of GH sensitivity in chilean patients with idiopathic short stature. J Clin Endocrinol Metab. 2001;86:4375–81.PubMedCrossRef Sjoberg M, Salazar T, Espinosa C, Dagnino A, Avila A, Eggers M, et al. Study of GH sensitivity in chilean patients with idiopathic short stature. J Clin Endocrinol Metab. 2001;86:4375–81.PubMedCrossRef
23.
Zurück zum Zitat Pedicelli S, Peschiaroli E, Violi E, Cianfarani S. Controversies in the definition and treatment of idiopathic short stature (ISS). J Clin Res Pediatr Endocrinol. 2009;1:105–15.PubMedPubMedCentralCrossRef Pedicelli S, Peschiaroli E, Violi E, Cianfarani S. Controversies in the definition and treatment of idiopathic short stature (ISS). J Clin Res Pediatr Endocrinol. 2009;1:105–15.PubMedPubMedCentralCrossRef
24.
Zurück zum Zitat Carlsson LM, Attie KM, Compton PG, Vitangcol RV, Merimee TJ. Reduced concentration of serum growth hormone-binding protein in children with idiopathic short stature. National Cooperative Growth Study. J Clin Endocrinol Metab. 1994;78:1325–30.PubMed Carlsson LM, Attie KM, Compton PG, Vitangcol RV, Merimee TJ. Reduced concentration of serum growth hormone-binding protein in children with idiopathic short stature. National Cooperative Growth Study. J Clin Endocrinol Metab. 1994;78:1325–30.PubMed
25.
Zurück zum Zitat Buckway CK, Guevara-Aguirre J, Pratt KL, Burren CP, Rosenfeld RG. The IGF-I generation test revisited: a marker of GH sensitivity. J Clin Endocrinol Metab. 2001;86:5176–83.PubMedCrossRef Buckway CK, Guevara-Aguirre J, Pratt KL, Burren CP, Rosenfeld RG. The IGF-I generation test revisited: a marker of GH sensitivity. J Clin Endocrinol Metab. 2001;86:5176–83.PubMedCrossRef
26.
Zurück zum Zitat Hujeirat Y, Hess O, Shalev S, Tenenbaum-Rakover Y. Growth hormone receptor sequence changes do not play a role in determining height in children with idiopathic short stature. Horm Res. 2006;65:210–6.PubMed Hujeirat Y, Hess O, Shalev S, Tenenbaum-Rakover Y. Growth hormone receptor sequence changes do not play a role in determining height in children with idiopathic short stature. Horm Res. 2006;65:210–6.PubMed
27.
Zurück zum Zitat David A, Hwa V, Metherell LA, Netchine I, Camacho-Hubner C, Clark AJ, et al. Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity. Endocr Rev. 2011;32:472–97.PubMedCrossRef David A, Hwa V, Metherell LA, Netchine I, Camacho-Hubner C, Clark AJ, et al. Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity. Endocr Rev. 2011;32:472–97.PubMedCrossRef
28.
Zurück zum Zitat Woods KA, Dastot F, Preece MA, Clark AJL, Postel-Vinay MC, Chatelain PG, et al. Phenotype: genotype relationships in growth hormone insensitivity syndrome. J Clin Endocrinol Metab. 1997;82:3529–35.PubMed Woods KA, Dastot F, Preece MA, Clark AJL, Postel-Vinay MC, Chatelain PG, et al. Phenotype: genotype relationships in growth hormone insensitivity syndrome. J Clin Endocrinol Metab. 1997;82:3529–35.PubMed
29.
Zurück zum Zitat Vairamani K, Merjaneh L, Casano-Sancho P, Sanli ME, David A, Metherell LA, et al. Dominant negative GH receptor mutations expands the Spectrum of GHI and IGF-1 deficiency. J Endocr Soc. 2017;1:345–58.PubMedPubMedCentralCrossRef Vairamani K, Merjaneh L, Casano-Sancho P, Sanli ME, David A, Metherell LA, et al. Dominant negative GH receptor mutations expands the Spectrum of GHI and IGF-1 deficiency. J Endocr Soc. 2017;1:345–58.PubMedPubMedCentralCrossRef
30.
Zurück zum Zitat Ayling RM, Ross RJ, Towner P, Von Laue S, Finidori J, Moutoussamy S, et al. A dominant-negative mutation of the growth hormone receptor causes familial short stature. Nat Genet. 1997;16:13–4.PubMedCrossRef Ayling RM, Ross RJ, Towner P, Von Laue S, Finidori J, Moutoussamy S, et al. A dominant-negative mutation of the growth hormone receptor causes familial short stature. Nat Genet. 1997;16:13–4.PubMedCrossRef
31.
Zurück zum Zitat Iida K, Takahashi Y, Kaji H, Nose O, Okimura Y, Abe H, et al. Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain. J Clin Endocrinol Metab. 1998;83:531–7.PubMed Iida K, Takahashi Y, Kaji H, Nose O, Okimura Y, Abe H, et al. Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain. J Clin Endocrinol Metab. 1998;83:531–7.PubMed
32.
Zurück zum Zitat Metherell LA, Akker SA, Munroe PB, Rose SJ, Caulfield M, Savage MO, et al. Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity. Am J Hum Genet. 2001;69:641–6.PubMedPubMedCentralCrossRef Metherell LA, Akker SA, Munroe PB, Rose SJ, Caulfield M, Savage MO, et al. Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity. Am J Hum Genet. 2001;69:641–6.PubMedPubMedCentralCrossRef
33.
Zurück zum Zitat Chatterjee S, Shapiro L, Rose SJ, Mushtaq T, Clayton PE, Ten SB, et al. Phenotypic Spectrum and responses to recombinant human IGF-1 (rhIGF-1) therapy in patients with homozygous Intronic Pseudoexon growth hormone receptor mutations. Eur J Endocrinol. 2018;178:481–9.PubMedCrossRef Chatterjee S, Shapiro L, Rose SJ, Mushtaq T, Clayton PE, Ten SB, et al. Phenotypic Spectrum and responses to recombinant human IGF-1 (rhIGF-1) therapy in patients with homozygous Intronic Pseudoexon growth hormone receptor mutations. Eur J Endocrinol. 2018;178:481–9.PubMedCrossRef
34.
Zurück zum Zitat Chatterjee S, Cottrell E, Rose SJ, Mushtaq T, Maharaj AV, Williams J, et al. Growth hormone receptor (GHR) gene transcript heterogeneity may explain phenotypic variability in patients with homozygous GHR Pseudoexon (6Ψ) mutation. Endocr Conn. 2020;9:211–22. https://doi.org/10.1530/EC-20-0026.CrossRef Chatterjee S, Cottrell E, Rose SJ, Mushtaq T, Maharaj AV, Williams J, et al. Growth hormone receptor (GHR) gene transcript heterogeneity may explain phenotypic variability in patients with homozygous GHR Pseudoexon (6Ψ) mutation. Endocr Conn. 2020;9:211–22. https://​doi.​org/​10.​1530/​EC-20-0026.CrossRef
35.
Zurück zum Zitat Heath KE, Argente J, Barrios V, Pozo J, Diaz-Gonzalez F, Martos-Moreno GA, et al. Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia. J Clin Endocrinol Metab. 2008;93:1616–24.PubMedCrossRef Heath KE, Argente J, Barrios V, Pozo J, Diaz-Gonzalez F, Martos-Moreno GA, et al. Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia. J Clin Endocrinol Metab. 2008;93:1616–24.PubMedCrossRef
36.
Zurück zum Zitat Dauber A, Munoz-Calvo MT, Barrios V, Domene HM, Kloverpris S, Serra-Juhe C, et al. Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability. EMBO Mol Med. 2016;8:363–74.PubMedPubMedCentralCrossRef Dauber A, Munoz-Calvo MT, Barrios V, Domene HM, Kloverpris S, Serra-Juhe C, et al. Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability. EMBO Mol Med. 2016;8:363–74.PubMedPubMedCentralCrossRef
38.
Zurück zum Zitat van Duyvenvoorde HA, van Setten PA, Walenkamp MJ, van Doorn J, Koenig J, Gauguin L, et al. Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene. J Clin Endocrinol Metab. 2010;95:E363–7.PubMedCrossRef van Duyvenvoorde HA, van Setten PA, Walenkamp MJ, van Doorn J, Koenig J, Gauguin L, et al. Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene. J Clin Endocrinol Metab. 2010;95:E363–7.PubMedCrossRef
39.
Zurück zum Zitat van Duyvenvoorde HA, Kempers MJ, Twickler TB, van Doorn J, Gerver WJ, Noordam C, et al. Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit. Eur J Endocrinol. 2008;159:113–20.PubMedCrossRef van Duyvenvoorde HA, Kempers MJ, Twickler TB, van Doorn J, Gerver WJ, Noordam C, et al. Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit. Eur J Endocrinol. 2008;159:113–20.PubMedCrossRef
40.
Zurück zum Zitat Fofanova-Gambetti OV, Hwa V, Wit JM, Domene HM, Argente J, Bang P, et al. Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium. J Clin Endocrinol Metab. 2010;95:4184–91.PubMedCrossRef Fofanova-Gambetti OV, Hwa V, Wit JM, Domene HM, Argente J, Bang P, et al. Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium. J Clin Endocrinol Metab. 2010;95:4184–91.PubMedCrossRef
41.
Zurück zum Zitat Isik E, Haliloglu B, van Doorn J, Demirbilek H, Scheltinga SA, Losekoot M, et al. Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations. Eur J Endocrinol. 2017;176:657–67.PubMedCrossRef Isik E, Haliloglu B, van Doorn J, Demirbilek H, Scheltinga SA, Losekoot M, et al. Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations. Eur J Endocrinol. 2017;176:657–67.PubMedCrossRef
42.
Zurück zum Zitat Inoue-Lima TH, Vasques GA, Scalco RC, Nakaguma N, Mendonca BB, Arnhold IJ, et al. IGF-I assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children. J Pediatr Endocrinol Metab. 2019;32:173–9.PubMedCrossRef Inoue-Lima TH, Vasques GA, Scalco RC, Nakaguma N, Mendonca BB, Arnhold IJ, et al. IGF-I assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children. J Pediatr Endocrinol Metab. 2019;32:173–9.PubMedCrossRef
43.
Zurück zum Zitat Cianfarani S, Liguori A, Boemi S, Maghnie M, Lughetti L, Wasniewska M, et al. Inaccuracy of insulin-like growth factor (IGF) binding protein (IGFBP)-3 assessment in the diagnosis of growth hormone (GH) deficiency from childhood to young adulthood: association to low GH dependency of IGF-II and presence of circulating IGFBP-3 18-kilodalton fragment. J Clin Endocrinol Metab. 2005;90:6028–34.PubMedCrossRef Cianfarani S, Liguori A, Boemi S, Maghnie M, Lughetti L, Wasniewska M, et al. Inaccuracy of insulin-like growth factor (IGF) binding protein (IGFBP)-3 assessment in the diagnosis of growth hormone (GH) deficiency from childhood to young adulthood: association to low GH dependency of IGF-II and presence of circulating IGFBP-3 18-kilodalton fragment. J Clin Endocrinol Metab. 2005;90:6028–34.PubMedCrossRef
44.
Zurück zum Zitat Hjortebjerg R, Frystyk J. Determination of IGFs and their binding proteins. Best Pract Res Clin Endocrinol Metab. 2013;27:771–81.PubMedCrossRef Hjortebjerg R, Frystyk J. Determination of IGFs and their binding proteins. Best Pract Res Clin Endocrinol Metab. 2013;27:771–81.PubMedCrossRef
45.
Zurück zum Zitat Juul A, Bang P, Hertel NT, Main K, Dalgaard P, Jorgensen K, et al. Serum insulin-like growth factor-I in 1030 healthy children, adolescents, and adults: relation to age, sex, stage of puberty, testicular size, and body mass index. J Clin Endocrinol Metab. 1994;78:744–52.PubMed Juul A, Bang P, Hertel NT, Main K, Dalgaard P, Jorgensen K, et al. Serum insulin-like growth factor-I in 1030 healthy children, adolescents, and adults: relation to age, sex, stage of puberty, testicular size, and body mass index. J Clin Endocrinol Metab. 1994;78:744–52.PubMed
46.
Zurück zum Zitat Juul A, Dalgaard P, Blum WF, Bang P, Hall K, Michaelsen KF, et al. Serum levels of insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) in healthy infants, children, and adolescents: the relation to IGF-I, IGF-II, IGFBP-1, IGFBP-2, age, sex, body mass index, and pubertal maturation. J Clin Endocrinol Metab. 1995;80:2534–42.PubMed Juul A, Dalgaard P, Blum WF, Bang P, Hall K, Michaelsen KF, et al. Serum levels of insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) in healthy infants, children, and adolescents: the relation to IGF-I, IGF-II, IGFBP-1, IGFBP-2, age, sex, body mass index, and pubertal maturation. J Clin Endocrinol Metab. 1995;80:2534–42.PubMed
47.
Zurück zum Zitat Coutant R, Dorr HG, Gleeson H, Argente J. Diagnosis of endocrine disease: limitations of the IGF1 generation test in children with short stature. Eur J Endocrinol. 2012;166:351–7.PubMedCrossRef Coutant R, Dorr HG, Gleeson H, Argente J. Diagnosis of endocrine disease: limitations of the IGF1 generation test in children with short stature. Eur J Endocrinol. 2012;166:351–7.PubMedCrossRef
48.
Zurück zum Zitat Blum WF, Ranke MB, Savage MO, Hall K. Insulin-like growth factors and their binding proteins in patients with growth hormone receptor deficiency: suggestions for new diagnostic criteria. Kabi Pharmacia study group on insulin-like growth factor-I treatment in growth hormone insensitivity syndromes. Acta Paediatr Suppl. 1992;383:125–6.PubMed Blum WF, Ranke MB, Savage MO, Hall K. Insulin-like growth factors and their binding proteins in patients with growth hormone receptor deficiency: suggestions for new diagnostic criteria. Kabi Pharmacia study group on insulin-like growth factor-I treatment in growth hormone insensitivity syndromes. Acta Paediatr Suppl. 1992;383:125–6.PubMed
49.
Zurück zum Zitat Selva KA, Buckway CK, Sexton G, Pratt KL, Tjoeng E, Guevara-Aguirre J, et al. Reproducibility in patterns of IGF generation with special reference to idiopathic short stature. Horm Res. 2003;60:237–46.PubMed Selva KA, Buckway CK, Sexton G, Pratt KL, Tjoeng E, Guevara-Aguirre J, et al. Reproducibility in patterns of IGF generation with special reference to idiopathic short stature. Horm Res. 2003;60:237–46.PubMed
50.
Zurück zum Zitat Midyett LK, Rogol AD, Van Meter QL, Frane J, Bright GM. Recombinant insulin-like growth factor (IGF)-I treatment in short children with low IGF-I levels: first-year results from a randomized clinical trial. J Clin Endocrinol Metab. 2010;95:611–9.PubMedCrossRef Midyett LK, Rogol AD, Van Meter QL, Frane J, Bright GM. Recombinant insulin-like growth factor (IGF)-I treatment in short children with low IGF-I levels: first-year results from a randomized clinical trial. J Clin Endocrinol Metab. 2010;95:611–9.PubMedCrossRef
51.
Zurück zum Zitat Kriström B, Aronson AF, Gustafsson J, Halldin M, Ivarsson SA, Nilsson N-O, et al. Growth hormone (GH) dosing during catch-up growth guided by individual responsiveness decreases growth response variability in prepubertal children with GH deficiency or idiopathic short stature. J Clin Endocrinol Metab. 2009;94:483–90.PubMedCrossRef Kriström B, Aronson AF, Gustafsson J, Halldin M, Ivarsson SA, Nilsson N-O, et al. Growth hormone (GH) dosing during catch-up growth guided by individual responsiveness decreases growth response variability in prepubertal children with GH deficiency or idiopathic short stature. J Clin Endocrinol Metab. 2009;94:483–90.PubMedCrossRef
52.
Zurück zum Zitat Bang P, Bjerknes R, Dahlgren J, Dunkel L, Justafsson J, Juul A, et al. A comparison of different definitions of growth response in short prepubertal children treated with growth hormone. Horm Res Paediatr. 2012;75:335–45.CrossRef Bang P, Bjerknes R, Dahlgren J, Dunkel L, Justafsson J, Juul A, et al. A comparison of different definitions of growth response in short prepubertal children treated with growth hormone. Horm Res Paediatr. 2012;75:335–45.CrossRef
Metadaten
Titel
The continuum between GH deficiency and GH insensitivity in children
verfasst von
Martin O. Savage
Helen L. Storr
Philippe F. Backeljauw
Publikationsdatum
06.10.2020
Verlag
Springer US
Erschienen in
Reviews in Endocrine and Metabolic Disorders / Ausgabe 1/2021
Print ISSN: 1389-9155
Elektronische ISSN: 1573-2606
DOI
https://doi.org/10.1007/s11154-020-09590-5

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Ob bei einer Notfalloperation nach Schenkelhalsfraktur eine Hemiarthroplastik oder eine totale Endoprothese (TEP) eingebaut wird, sollte nicht allein vom Alter der Patientinnen und Patienten abhängen. Auch über 90-Jährige können von der TEP profitieren.

Niedriger diastolischer Blutdruck erhöht Risiko für schwere kardiovaskuläre Komplikationen

25.04.2024 Hypotonie Nachrichten

Wenn unter einer medikamentösen Hochdrucktherapie der diastolische Blutdruck in den Keller geht, steigt das Risiko für schwere kardiovaskuläre Ereignisse: Darauf deutet eine Sekundäranalyse der SPRINT-Studie hin.

Bei schweren Reaktionen auf Insektenstiche empfiehlt sich eine spezifische Immuntherapie

Insektenstiche sind bei Erwachsenen die häufigsten Auslöser einer Anaphylaxie. Einen wirksamen Schutz vor schweren anaphylaktischen Reaktionen bietet die allergenspezifische Immuntherapie. Jedoch kommt sie noch viel zu selten zum Einsatz.

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