Riesgo aterogénico en el déficit de hormona de crecimiento: una mirada desde la infancia
| Issue | Vol. 2 Núm. 2 (2018): Ciencia y Salud, mayo-agosto |
| DOI | |
| Publicado | may 1, 2018 |
|
Estadísticas |
Departamento de Endocrinología Pediátrica. Instituto Nacional de Endocrinología
Departamento de Endocrinología Pediátrica. Instituto Nacional de Endocrinología
Resumen
La Deficiencia de Hormona de Crecimiento es la forma más común de hipopituitarismo en niños. Desde la infancia se asocia con disminución de la masa magra e incremento de la grasa corporal, perfil desfavorable lipídico y glucémico e insulinoresistencia. Todos estos factores aceleran la aterosclerosis y promueven una elevada morbilidad cardiovascular.
1.Alatzoglou KS, Webb EA, Le Tissier P et al. Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances. Endocr Rev. 2014;35:376e432.
2.Wit JM, Oostdijk W, Losekoot M et al. Mechanisms in endocrinology: novel genetic causes of short stature. Eur J Endocrinol. 2016;174:R145e73.
3.Argente J, Flores R, Gutierrez-Arumí A et al. Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency. EMBO Mol Med. 2014;6:299e306.
4.Webb EA, AlMutair A, Kelberman D et al. ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. Brain. 2013;136:3096e105.
5.Joustra SD, Heinen CA, Schoenmakers N et al. IGSF1 deficiency: lessons from an extensive case series and recommendations for clinical management. J Clin Endocrinol Metab. 2016;101:1627e36.
6.Gregory LC, Gevers EF, Baker J et al. Structural pituitary abnormalities associated with CHARGE syndrome. J Clin Endocrinol Metab. 2013;98:E737e43.
7.Gaston-Massuet C, McCabe MJ, Scagliotti V et al. Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans. Proc Natl Acad Sci. 2016;113:E548e57.
8.Lucas-Herald AK, Kinning E, Iida A et al. A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations. J Clin Endocrinol Metab. 2015;100:1221e4.
9.Karaca E, Buyukkaya R, Pehlivan D et al. Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab. 2015;100:E140e7.
10.Bashamboo A, Bignon-Topalovic J, Rouba H et al. A nonsense mutation in the hedgehog receptor CDON associated with pituitary stalk interruption syndrome. J Clin Endocrinol Metab. 2016;101:12e5.
11.Patat O, van Ravenswaaij-Arts CMA, Tantau J et al. Otocephaly-dysgnathia complex: description of four cases and confirmation of the role of OTX2. Mol Syndromol. 2013;4:302e5.
12.Sergouniotis PI, Urquhart JE, Williams SG et al. Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2. J Hum Genet. 2015;60:199e202.
13.Vincent A, Forster N, Maynes JT et al. OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. J Med Genet. 2014;51:797e805.
14.Williamson KA, Fitz Patrick. The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet. 2014;57:369e80.
15.Franca MM, Jorge AAL, Carvalho LRS et al. Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. J Clin Endocrinol Metab. 2010;95:E384e91.
16.Demurger F, Ichkou A, Mougou-Zerelli S et al. New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet. 2015;23:92e102.
17.Gregory LC, Humayun KN, Turton JP et al. Novel lethal form of congenital hypopituitarism associated with the first recessive LHX4 mutation. J Clin Endocrinol Metab. 2015;100:2158e64.
18.Gregory LC, Gaston-Massuet C, Andoniadou CL et al. The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism. Clin Endocrinol. 2015;82:728e38.
19.McCabe MJ, Gaston-Massuet C, Tziaferi V et al. Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction. J Clin Endocrinol Metab. 2011;96:E1709e18.
20.Correa FA, Trarbach EB, Tusset C et al. FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies. Endocr Connect. 2015;4:100e7.
21.Xu H, Niu Y, Wang T et al. Novel FGFR1 and KISS1R mutations in Chinese Kallmann syndrome males with cleft lip/palate. Biomed Res Int. 2015. http://dx.doi. org/10.1155/2015/649698.
22.Asakura Y, Muroya K, Hanakawa J et al. Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation. Clin Pediatr Endocrinol. 2015;24:27e32.
23.Reynaud R, Jayakody SA, Monnier C et al. PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption. J Clin Endocrinol Metab. 2012;97:1068e73.
24.McCabe MJ, Gaston-Massuet C, Gregory LC et al. Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia. J Clin Endocrinol Metab. 2013;98:E547e57.
25.Quentien MH, Delemer B, Papadimitriou DT et al. Deficitin anterior pituitary function and variable immune deficiency (DAVID) in children presentingwith adrenocorticotropin deficiency and severe infections. J Clin Endocrinol Metab. 2012;9:121e8.
26.Takagi M, Nagasaki K, Fujiwara I et al. Heterozygous defects in PAX6 gene and congenital hypopituitarism. Eur J Endocrinol. 2015;172:37e45.
27.Castinetti F, Reynaud R, Saveanu A et al. Mechanisms in endocrinology: an update in the genetic aetiologies of combined pituitary hormone deficiency. Eur J Endocrinol. 2016;174:R239e47.
28.V. Khadilkar, V. Ekbote, N. Kajale, A. Khadilkar, S. Chiplonkar, A. Kinare, Effect of oneyear growth hormone therapy on body composition and cardio-metabolic risk in Indian children with growth hormone deficiency, Endocr. Res. 2014(39)73-78.
29.Prodam F, Savastio S, Genoni G et al. Effects of growth hormone (GH) therapy withdrawal on glucose metabolism in not confirmed GH deficient adolescents at final height. PLoS One. 2014;9(1):e87157.
30.Palmeiro CR, Anand R, Dardi IK, Balasubramaniyam N, Schwarcz MD, Weiss IA. Growth hormone and the cardiovascular system. Cardiol Rev. 2012; 20: 197-207.
31.Colao A. The GH-IGF-I axis and the cardiovascular system: clinical implications. Clin Endocrinol (Oxf). 2008 Sep;69(3):347e58.
32.Isgaard J, Arcopinto M, Karason K et al. GH and the cardiovascular system: an update on a topic at heart. Endocrine. 2015 Feb;48(1):25e35.
33.Gazzaruso C, Gola M, Karamouzis I et al. Cardiovascular risk in adult patients with growth hormone (GH) deficiency and following substitution with GHean update. J Clin Endocrinol Metab. 2014 Jan;99(1):18e29.
34.Kuromaru R, Kohno H, Ueyama N et al. Long-term effect of growth hormone (GH) treatment on body composition in children with GH deficiency. Endocr J. 1999 Mar;46(Suppl):S35e8.
35.Lacey KA, Parkin JM. Causes of short stature. A community study of children in Newcastle upon Tyne. Lancet. 1974;12: 42e5.
36.Rona RJ, Tanner JM. Aetiology of idiopathic growth hormone deficiency in England and Wales. Arch Dis Childhood. 1977;52:197e208.
37.Murray PG, Paterson WF, Donaldson MD. Maternal age in patients with septo-optic dysplasia. J Pediatr Endocrinol Metab. 2005;18:471e6.
38.Bao XL, Shi YF, Du YC et al. Prevalence of growth hormone deficiency of children in Beijing. Chin Med J (Engl). 1992;105:401e5.
39.Migliaretti G, Aimaretti G, Borraccino A et al. Incidence and prevalence rate estimation of growth hormone treatment exposure in Piedment paediatric population in the years 2002e2004: data from the GH registry. J Endocrinol Invest. 2006;29:438e42.
40.Alberti KG, Zimmet P, Shaw J. Metabolic syndromeea new world-wide definition. A consensus statement from the international diabetes federation. Diabet Med. 2006 May;23(5):469e80.
41.Johansson JO, Landin K, Tengborn L et al. High fibrinogen and plasminogen activator inhibitor activity in growth hormone-deficient adults. Arterioscler Thromb. 1994 Mar;14(3):434e7.
42.Jorgensen JO, Pedersen SA, Thuesen L et al. Beneficial effects of growth hormone treatment in GH-deficient adults. Lancet. 1989 Jun 3;1(8649):1221e5.
43.Koerner A, Kratzsch J, Kiess W. Adipocytokines: leptinethe classical, resistinethe controversial, adiponectinethe promising, and more to come. Best Pract Res Clin Endocrinol Metab. 2005 Dec;19(4):525e46.
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46.Jorgensen JO, Vestergaard E, Gormsen L et al. Metabolic consequences of GH deficiency. J Endocrinol Investig. 2005;28(5 Suppl):47e51.
47.LeRoith D, Yakar S. Mechanisms of disease: metabolic effects of growth hormone and insulin-like growth factor 1. Nat Clin Pract Endocrinol Metab. 2007 Mar;3(3):302e10.
48.Bramnert M, Segerlantz M, Laurila E et al. Growth hormone replacement therapy induces insulin resistance by activating the glucose-fatty acid cycle. J Clin Endocrinol Metab. 2003 Apr; 88(4):1455e63.
49.Salomon F, Cuneo RC, Hesp R et al. The effects of treatment with recombinant human growth hormone on body composition and metabolism in adults with growth hormone deficiency. N Engl J Med. 1989 Dec 28;321(26):1797e803.
50.Appelman-Dijkstra NM, Claessen KM, Roelfsema F et al. Long-term effects of recombinant human GH replacement in adults with GH deficiency: a systematic review. Eur J Endocrinol. 2013 Jul; 169(1):R1e14.
51.Carroll PV, Drake WM, Maher KT et al. Comparison of continuation or cessation of growth hormone (GH) therapy on body composition and metabolic status in adolescents with severe GH deficiency at completion of linear growth. J Clin Endocrinol Metab. 2004 Aug;89 (8):3890e5.
52.Salerno M, Esposito V, Farina V et al. Improvement of cardiac performance and cardiovascular risk factors in children with GH deficiency after two years of GH replacement therapy: an observational, open, prospective, case-control study. J Clin Endocrinol Metab. 2006 Apr;91(4):1288e95.
53.Ciresi A, Ciccio F, Amato MC et al. Revaluation of the clinical and metabolic behavior of children with isolated growth hormone deficiency during GH treatment according to newly proposed note 39 of the Italian Medicines Agency (AIFA). J Endocrinol Investig. 2015 Dec;38(12):1301e7.
54.Ramistella V, Wasniewska M, Arasi S et al. Cross-sectional and prospective study of the effects of GH therapy on metabolic panel in children with GH deficiency. Pediatr Med Chir. 2014 Sep;36(5e6):104.
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2.Wit JM, Oostdijk W, Losekoot M et al. Mechanisms in endocrinology: novel genetic causes of short stature. Eur J Endocrinol. 2016;174:R145e73.
3.Argente J, Flores R, Gutierrez-Arumí A et al. Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency. EMBO Mol Med. 2014;6:299e306.
4.Webb EA, AlMutair A, Kelberman D et al. ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. Brain. 2013;136:3096e105.
5.Joustra SD, Heinen CA, Schoenmakers N et al. IGSF1 deficiency: lessons from an extensive case series and recommendations for clinical management. J Clin Endocrinol Metab. 2016;101:1627e36.
6.Gregory LC, Gevers EF, Baker J et al. Structural pituitary abnormalities associated with CHARGE syndrome. J Clin Endocrinol Metab. 2013;98:E737e43.
7.Gaston-Massuet C, McCabe MJ, Scagliotti V et al. Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans. Proc Natl Acad Sci. 2016;113:E548e57.
8.Lucas-Herald AK, Kinning E, Iida A et al. A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations. J Clin Endocrinol Metab. 2015;100:1221e4.
9.Karaca E, Buyukkaya R, Pehlivan D et al. Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab. 2015;100:E140e7.
10.Bashamboo A, Bignon-Topalovic J, Rouba H et al. A nonsense mutation in the hedgehog receptor CDON associated with pituitary stalk interruption syndrome. J Clin Endocrinol Metab. 2016;101:12e5.
11.Patat O, van Ravenswaaij-Arts CMA, Tantau J et al. Otocephaly-dysgnathia complex: description of four cases and confirmation of the role of OTX2. Mol Syndromol. 2013;4:302e5.
12.Sergouniotis PI, Urquhart JE, Williams SG et al. Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2. J Hum Genet. 2015;60:199e202.
13.Vincent A, Forster N, Maynes JT et al. OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. J Med Genet. 2014;51:797e805.
14.Williamson KA, Fitz Patrick. The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet. 2014;57:369e80.
15.Franca MM, Jorge AAL, Carvalho LRS et al. Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. J Clin Endocrinol Metab. 2010;95:E384e91.
16.Demurger F, Ichkou A, Mougou-Zerelli S et al. New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet. 2015;23:92e102.
17.Gregory LC, Humayun KN, Turton JP et al. Novel lethal form of congenital hypopituitarism associated with the first recessive LHX4 mutation. J Clin Endocrinol Metab. 2015;100:2158e64.
18.Gregory LC, Gaston-Massuet C, Andoniadou CL et al. The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism. Clin Endocrinol. 2015;82:728e38.
19.McCabe MJ, Gaston-Massuet C, Tziaferi V et al. Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction. J Clin Endocrinol Metab. 2011;96:E1709e18.
20.Correa FA, Trarbach EB, Tusset C et al. FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies. Endocr Connect. 2015;4:100e7.
21.Xu H, Niu Y, Wang T et al. Novel FGFR1 and KISS1R mutations in Chinese Kallmann syndrome males with cleft lip/palate. Biomed Res Int. 2015. http://dx.doi. org/10.1155/2015/649698.
22.Asakura Y, Muroya K, Hanakawa J et al. Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation. Clin Pediatr Endocrinol. 2015;24:27e32.
23.Reynaud R, Jayakody SA, Monnier C et al. PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption. J Clin Endocrinol Metab. 2012;97:1068e73.
24.McCabe MJ, Gaston-Massuet C, Gregory LC et al. Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia. J Clin Endocrinol Metab. 2013;98:E547e57.
25.Quentien MH, Delemer B, Papadimitriou DT et al. Deficitin anterior pituitary function and variable immune deficiency (DAVID) in children presentingwith adrenocorticotropin deficiency and severe infections. J Clin Endocrinol Metab. 2012;9:121e8.
26.Takagi M, Nagasaki K, Fujiwara I et al. Heterozygous defects in PAX6 gene and congenital hypopituitarism. Eur J Endocrinol. 2015;172:37e45.
27.Castinetti F, Reynaud R, Saveanu A et al. Mechanisms in endocrinology: an update in the genetic aetiologies of combined pituitary hormone deficiency. Eur J Endocrinol. 2016;174:R239e47.
28.V. Khadilkar, V. Ekbote, N. Kajale, A. Khadilkar, S. Chiplonkar, A. Kinare, Effect of oneyear growth hormone therapy on body composition and cardio-metabolic risk in Indian children with growth hormone deficiency, Endocr. Res. 2014(39)73-78.
29.Prodam F, Savastio S, Genoni G et al. Effects of growth hormone (GH) therapy withdrawal on glucose metabolism in not confirmed GH deficient adolescents at final height. PLoS One. 2014;9(1):e87157.
30.Palmeiro CR, Anand R, Dardi IK, Balasubramaniyam N, Schwarcz MD, Weiss IA. Growth hormone and the cardiovascular system. Cardiol Rev. 2012; 20: 197-207.
31.Colao A. The GH-IGF-I axis and the cardiovascular system: clinical implications. Clin Endocrinol (Oxf). 2008 Sep;69(3):347e58.
32.Isgaard J, Arcopinto M, Karason K et al. GH and the cardiovascular system: an update on a topic at heart. Endocrine. 2015 Feb;48(1):25e35.
33.Gazzaruso C, Gola M, Karamouzis I et al. Cardiovascular risk in adult patients with growth hormone (GH) deficiency and following substitution with GHean update. J Clin Endocrinol Metab. 2014 Jan;99(1):18e29.
34.Kuromaru R, Kohno H, Ueyama N et al. Long-term effect of growth hormone (GH) treatment on body composition in children with GH deficiency. Endocr J. 1999 Mar;46(Suppl):S35e8.
35.Lacey KA, Parkin JM. Causes of short stature. A community study of children in Newcastle upon Tyne. Lancet. 1974;12: 42e5.
36.Rona RJ, Tanner JM. Aetiology of idiopathic growth hormone deficiency in England and Wales. Arch Dis Childhood. 1977;52:197e208.
37.Murray PG, Paterson WF, Donaldson MD. Maternal age in patients with septo-optic dysplasia. J Pediatr Endocrinol Metab. 2005;18:471e6.
38.Bao XL, Shi YF, Du YC et al. Prevalence of growth hormone deficiency of children in Beijing. Chin Med J (Engl). 1992;105:401e5.
39.Migliaretti G, Aimaretti G, Borraccino A et al. Incidence and prevalence rate estimation of growth hormone treatment exposure in Piedment paediatric population in the years 2002e2004: data from the GH registry. J Endocrinol Invest. 2006;29:438e42.
40.Alberti KG, Zimmet P, Shaw J. Metabolic syndromeea new world-wide definition. A consensus statement from the international diabetes federation. Diabet Med. 2006 May;23(5):469e80.
41.Johansson JO, Landin K, Tengborn L et al. High fibrinogen and plasminogen activator inhibitor activity in growth hormone-deficient adults. Arterioscler Thromb. 1994 Mar;14(3):434e7.
42.Jorgensen JO, Pedersen SA, Thuesen L et al. Beneficial effects of growth hormone treatment in GH-deficient adults. Lancet. 1989 Jun 3;1(8649):1221e5.
43.Koerner A, Kratzsch J, Kiess W. Adipocytokines: leptinethe classical, resistinethe controversial, adiponectinethe promising, and more to come. Best Pract Res Clin Endocrinol Metab. 2005 Dec;19(4):525e46.
44.Roth CL, Reinehr T. Roles of gastrointestinal and adipose tissue peptides in childhood obesity and changes after weight loss due to lifestyle intervention. Arch Pediatr Adolesc Med. 2010 Feb;164(2):131e8.
45.De Leonibus C, De Marco S, Stevens A et al. Growth hormone deficiency in prepubertal children: predictive markers of cardiovascular disease. Horm Res Paediatr. 2016;85(6):363e71.
46.Jorgensen JO, Vestergaard E, Gormsen L et al. Metabolic consequences of GH deficiency. J Endocrinol Investig. 2005;28(5 Suppl):47e51.
47.LeRoith D, Yakar S. Mechanisms of disease: metabolic effects of growth hormone and insulin-like growth factor 1. Nat Clin Pract Endocrinol Metab. 2007 Mar;3(3):302e10.
48.Bramnert M, Segerlantz M, Laurila E et al. Growth hormone replacement therapy induces insulin resistance by activating the glucose-fatty acid cycle. J Clin Endocrinol Metab. 2003 Apr; 88(4):1455e63.
49.Salomon F, Cuneo RC, Hesp R et al. The effects of treatment with recombinant human growth hormone on body composition and metabolism in adults with growth hormone deficiency. N Engl J Med. 1989 Dec 28;321(26):1797e803.
50.Appelman-Dijkstra NM, Claessen KM, Roelfsema F et al. Long-term effects of recombinant human GH replacement in adults with GH deficiency: a systematic review. Eur J Endocrinol. 2013 Jul; 169(1):R1e14.
51.Carroll PV, Drake WM, Maher KT et al. Comparison of continuation or cessation of growth hormone (GH) therapy on body composition and metabolic status in adolescents with severe GH deficiency at completion of linear growth. J Clin Endocrinol Metab. 2004 Aug;89 (8):3890e5.
52.Salerno M, Esposito V, Farina V et al. Improvement of cardiac performance and cardiovascular risk factors in children with GH deficiency after two years of GH replacement therapy: an observational, open, prospective, case-control study. J Clin Endocrinol Metab. 2006 Apr;91(4):1288e95.
53.Ciresi A, Ciccio F, Amato MC et al. Revaluation of the clinical and metabolic behavior of children with isolated growth hormone deficiency during GH treatment according to newly proposed note 39 of the Italian Medicines Agency (AIFA). J Endocrinol Investig. 2015 Dec;38(12):1301e7.
54.Ramistella V, Wasniewska M, Arasi S et al. Cross-sectional and prospective study of the effects of GH therapy on metabolic panel in children with GH deficiency. Pediatr Med Chir. 2014 Sep;36(5e6):104.
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Deficiencia de Hormona de Crecimiento
hipopituitarismo
riesgo aterogénico
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© Ciencia y Salud, 2018
Afiliaciones
Francisco Carvajal Martínez
Departamento de Endocrinología Pediátrica. Instituto Nacional de Endocrinología
Yuraimi Piz Ramos
Departamento de Endocrinología Pediátrica. Instituto Nacional de Endocrinología
Cómo citar
1.
Carvajal Martínez F, Piz Ramos Y. Riesgo aterogénico en el déficit de hormona de crecimiento: una mirada desde la infancia. cisa [Internet]. 1 de mayo de 2018 [citado 22 de diciembre de 2024];2(2):9-20. Disponible en: https://revistas.intec.edu.do/index.php/cisa/article/view/1177