Growth failure and experience with growth hormone therapy in noonan syndrome

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorMALAQUIAS, A. C.
dc.contributor.authorJORGE, A. A. L.
dc.date.accessioned2023-02-09T19:56:15Z
dc.date.available2023-02-09T19:56:15Z
dc.date.issued2019
dc.description.abstractNoonan syndrome (NS, OMIM 163950) is a frequent autosomal dominant disorder characterized by facial dysmorphisms, short stature, and congenital heart defects. Mutations related to RAS/MAPK (mitogen-activated protein kinase) signaling pathway have shown to be involved in the pathogenesis of NS as well as Noonan-like syndromes (NLS). These mutations are predicted to be gain-of-function defects increasing signaling down the RAS/MAPK pathway. Several hormones act through receptors that stimulate the RAS/MAPK pathway, and therefore, NS and related disorders present implications in different endocrine systems, including the GH/IGF-1 system. Additionally, adult height of NS patients has shown improvement after recombinant human growth hormone (rhGH) treatment. In this chapter, we review the diagnostic, clinical, and molecular aspects of NS and rhGH treatment of short stature in these patients. © 2019 Elsevier Inc. All rights reserved.
dc.identifier.citationMalaquias, A. C.; Jorge, A. A. L.. Growth failure and experience with growth hormone therapy in noonan syndrome. In: . NOONAN SYNDROME: CHARACTERISTICS AND INTERVENTIONS: ELSEVIER, 2019. p.15-29.
dc.identifier.doi10.1016/B978-0-12-815348-2.00001-3
dc.identifier.isbn9780128153482; 9780128153499
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/51070
dc.language.isoeng
dc.publisherELSEVIER
dc.relation.ispartofNOONAN SYNDROME: CHARACTERISTICS AND INTERVENTIONS
dc.rightsrestrictedAccess
dc.rights.holderCopyright ELSEVIER
dc.subjectGrowth hormone
dc.subjectNoonan syndrome
dc.subjectRAS/MAPK
dc.subjectRASopathies
dc.subjectShort stature
dc.titleGrowth failure and experience with growth hormone therapy in noonan syndrome
dc.typebookPart
dc.type.categorybook chapter
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.citation.scopus0
hcfmusp.contributor.author-fmusphcALEXSANDRA CHRISTIANNE MALAQUIAS DE MOURA RIBEIRO
hcfmusp.contributor.author-fmusphcALEXANDER AUGUSTO DE LIMA JORGE
hcfmusp.description.beginpage15
hcfmusp.description.endpage29
hcfmusp.origemSCOPUS
hcfmusp.origem.scopus2-s2.0-85082590457
hcfmusp.relation.referenceTartaglia, M., Gelb, B.D., Noonan syndrome and related disorders: Genetics and pathogenesis (2005) Annu Rev Genomics Hum Genet, 6, pp. 45-68
hcfmusp.relation.referenceYart, A., Edouard, T., Noonan syndrome: An update on growth and development (2018) Curr Opin Endocrinol Diabetes Obes, 25 (1), pp. 67-73
hcfmusp.relation.referencevan der Burgt, I., Berends, E., Lommen, E., van Beersum, S., Hamel, B., Mariman, E., Clinical and molecular studies in a large Dutch family with Noonan syndrome (1994) Am J Med Genet, 53 (2), pp. 187-191
hcfmusp.relation.referenceTartaglia, M., Mehler, E.L., Goldberg, R., Zampino, G., Brunner, H.G., Kremer, H., Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome (2001) Nat Genet, 29 (4), pp. 465-468
hcfmusp.relation.referenceAoki, Y., Niihori, T., Inoue, S., Matsubara, Y., Recent advances in RASopathies (2016) J Hum Genet, 61 (1), pp. 33-39
hcfmusp.relation.referenceTidyman, W.E., Rauen, K.A., The RASopathies: Developmental syndromes of Ras/MAPK pathway dysregulation (2009) Curr Opin Genet Dev, 19 (3), pp. 230-236
hcfmusp.relation.referenceTartaglia, M., Gelb, B.D., Zenker, M., Noonan syndrome and clinically related disorders (2011) Best Pract Res Clin Endocrinol Metab, 25 (1), pp. 161-179
hcfmusp.relation.referenceMalaquias, A.C., Brasil, A.S., Pereira, A.C., Arnhold, I.J., Mendonca, B.B., Bertola, D.R., Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway (2012) Am J Med Genet A, 158A (11), pp. 2700-2706
hcfmusp.relation.referenceWitt, D.R., Keena, B.A., Hall, J.G., Allanson, J.E., Growth curves for height in Noonan syndrome (1986) Clin Genet, 30 (3), pp. 150-153
hcfmusp.relation.referenceRanke, M.B., Heidemann, P., Knupfer, C., Enders, H., Schmaltz, A.A., Bierich, J.R., Noonan syndrome: Growth and clinical manifestations in 144 cases (1988) Eur J Pediatr, 148 (3), pp. 220-227
hcfmusp.relation.referenceSilva, D.A., Pelegrini, A., Petroski, E.L., Gaya, A.C., Comparison between the growth of Brazilian children and adolescents and the reference growth charts: Data from a Brazilian project (2010) J Pediatr, 86 (2), pp. 115-120
hcfmusp.relation.referenceIsojima, T., Sakazume, S., Hasegawa, T., Ogata, T., Nakanishi, T., Nagai, T., Growth references for Japanese individuals with Noonan syndrome (2016) Pediatr Res, 79 (4), pp. 543-548
hcfmusp.relation.referenceAhmed, M.L., Foot, A.B., Edge, J.A., Lamkin, V.A., Savage, M.O., Dunger, D.B., Noonan’s syndrome: Abnormalities of the growth hormone/IGF-I axis and the response to treatment with human biosynthetic growth hormone (1991) Acta Paediatr Scand, 80 (4), pp. 446-450
hcfmusp.relation.referenceNoordam, C., Draaisma, J.M., van den Nieuwenhof, J., van der Burgt, I., Otten, B.J., Daniels, O., Effects of growth hormone treatment on left ventricular dimensions in children with Noonan’s syndrome (2001) Horm Res, 56 (3-4), pp. 110-113
hcfmusp.relation.referenceNoordam, C., van der Burgt, I., Sweep, C.G., Delemarre-van de Waal, H.A., Sengers, R.C., Otten, B.J., Growth hormone (GH) secretion in children with Noonan syndrome: Frequently abnormal without consequences for growth or response to GH treatment (2001) Clin Endocrinol, 54 (1), pp. 53-59
hcfmusp.relation.referenceWestphal, O., Growth hormone therapy in Noonan syndrome: Growth response and characteristics (2009) Horm Res, 72, pp. 41-45
hcfmusp.relation.referenceNoonan, J.A., Noonan syndrome and related disorders: Alterations in growth and puberty (2006) Rev Endocr Metab Disord, 7 (4), pp. 251-255
hcfmusp.relation.referenceTamburrino, F., Gibertoni, D., Rossi, C., Scarano, E., Perri, A., Montanari, F., Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data (2015) Am J Med Genet A, 167A (11), pp. 2786-2794
hcfmusp.relation.referenceSarkozy, A., Digilio, M.C., Dallapiccola, B., Leopard syndrome (2008) Orphanet J Rare Dis, 3, p. 13
hcfmusp.relation.referenceWit, J.M., de Luca, F., Atypical defects resulting in growth hormone insensitivity (2016) Growth Hormon IGF Res, 28, pp. 57-61
hcfmusp.relation.referenceBinder, G., Neuer, K., Ranke, M.B., Wittekindt, N.E., PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome (2005) J Clin Endocrinol Metab, 90 (9), pp. 5377-5381
hcfmusp.relation.referenceCotterill, A.M., McKenna, W.J., Brady, A.F., Sharland, M., Elsawi, M., Yamada, M., The short-term effects of growth hormone therapy on height velocity and cardiac ventricular wall thickness in children with Noonan’s syndrome (1996) J Clin Endocrinol Metab, 81 (6), pp. 2291-2297
hcfmusp.relation.referenceFerreira, L.V., Souza, S.A., Arnhold, I.J., Mendonca, B.B., Jorge, A.A., PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome (2005) J Clin Endocrinol Metab, 90 (9), pp. 5156-5160
hcfmusp.relation.referenceLimal, J.M., Parfait, B., Cabrol, S., Bonnet, D., Leheup, B., Lyonnet, S., Noonan syndrome: Relationships between genotype, growth, and growth factors (2006) J Clin Endocrinol Metab, 91 (1), pp. 300-306
hcfmusp.relation.referenceDe Rocca, S.-N.A., Edouard, T., Treguer, K., Tajan, M., Araki, T., Dance, M., Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature (2012) Proc Natl Acad Sci U S A, 109 (11), pp. 4257-4262
hcfmusp.relation.referenceVasques, G.A., Arnhold, I.J., Jorge, A.A., Role of the natriuretic peptide system in normal growth and growth disorders (2014) Horm Res Paediatr, 82 (4), pp. 222-229
hcfmusp.relation.referenceYang, W., Neel, B.G., From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis (2013) Rare Dis, 1, p. e26657
hcfmusp.relation.referenceCessans, C., Ehlinger, V., Arnaud, C., Yart, A., Capri, Y., Barat, P., Growth patterns of patients with Noonan syndrome: Correlation with age and genotype (2016) Eur J Endocrinol, 174 (5), pp. 641-650
hcfmusp.relation.referenceKontaridis, M.I., Swanson, K.D., David, F.S., Barford, D., Neel, B.G., PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects (2006) J Biol Chem, 281 (10), pp. 6785-6792
hcfmusp.relation.referenceBertola, D.R., Yamamoto, G.L., Almeida, T.F., Buscarilli, M., Jorge, A.A., Malaquias, A.C., Further evidence of the importance of RIT1 in Noonan syndrome (2014) Am J Med Genet A, 164A (11), pp. 2952-2957
hcfmusp.relation.referenceSchwartz, M.W., Seeley, R.J., Seminars in medicine of the Beth Israel Deaconess Medical Center. Neuroendocrine responses to starvation and weight loss (1997) N Engl J Med, 336 (25), pp. 1802-1811
hcfmusp.relation.referenceGiacomozzi, C., Deodati, A., Shaikh, M.G., Ahmed, S.F., Cianfarani, S., The impact of growth hormone therapy on adult height in Noonan syndrome: A systematic review (2015) Horm Res Paediatr, 83 (3), pp. 167-176
hcfmusp.relation.referenceKirk, J.M., Betts, P.R., Butler, G.E., Donaldson, M.D., Dunger, D.B., Johnston, D.I., Short stature in Noonan syndrome: Response to growth hormone therapy (2001) Arch Dis Child, 84 (5), pp. 440-443
hcfmusp.relation.referenceRomano, A.A., Blethen, S.L., Dana, K., Noto, R.A., Growth hormone treatment in Noonan syndrome: The National Cooperative Growth Study experience (1996) J Pediatr, 128 (5), pp. S18-S21
hcfmusp.relation.referenceRaaijmakers, R., Noordam, C., Karagiannis, G., Gregory, J.W., Hertel, N.T., Sipila, I., Response to growth hormone treatment and final height in Noonan syndrome in a large cohort of patients in the KIGS database (2008) J Pediatr Endocrinol Metab, 21 (3), pp. 267-273
hcfmusp.relation.referenceLee, P.A., Ross, J., Germak, J.A., Gut, R., Effect of 4 years of growth hormone therapy in children with Noonan syndrome in the American Norditropin studies: Web-enabled research (ANSWER) program(R) registry (2012) Int J Pediatr Endocrinol, 2012 (1), p. 15
hcfmusp.relation.referenceRanke, M.B., Noonan syndrome: Growth to growth hormone-the experience of observational studies (2009) Horm Res, 72, pp. 36-40
hcfmusp.relation.referenceMacFarlane, C.E., Brown, D.C., Johnston, L.B., Patton, M.A., Dunger, D.B., Savage, M.O., Growth hormone therapy and growth in children with Noonan’s syndrome: Results of 3 years’ follow-up (2001) J Clin Endocrinol Metab, 86 (5), pp. 1953-1956
hcfmusp.relation.referenceDe Schepper, J., Otten, B.J., Francois, I., Bourguignon, J.P., Craen, M., Van der Burgt, I., Growth hormone therapy in pre-pubertal children with Noonan syndrome: First year growth response and comparison with turner syndrome (1997) Acta Paediatr, 86 (9), pp. 943-946
hcfmusp.relation.referenceOgawa, M., Moriya, N., Ikeda, H., Tanae, A., Tanaka, T., Ohyama, K., Clinical evaluation of recombinant human growth hormone in Noonan syndrome (2004) Endocr J, 51 (1), pp. 61-68
hcfmusp.relation.referenceŞıklar, Z., Genens, M., Poyrazoğlu, Ş., Baş, F., Darendeliler, F., Bundak, R., The growth characteristics of patients with Noonan syndrome: Results of three years of growth hormone treatment: A nationwide multicenter study (2016) J Clin Res Pediatr Endocrinol, 8 (3), pp. 305-312
hcfmusp.relation.referenceRomano, A.A., Dana, K., Bakker, B., Davis, D.A., Hunold, J.J., Jacobs, J., Growth response, near-adult height, and patterns of growth and puberty in patients with Noonan syndrome treated with growth hormone (2009) J Clin Endocrinol Metab, 94 (7), pp. 2338-2344
hcfmusp.relation.referenceOsio, D., Dahlgren, J., Wikland, K.A., Westphal, O., Improved final height with long-term growth hormone treatment in Noonan syndrome (2005) Acta Paediatr, 94 (9), pp. 1232-1237
hcfmusp.relation.referenceNoordam, C., Peer, P.G., Francois, I., De Schepper, J., van den Burgt, I., Otten, B.J., Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11 (2008) Eur J Endocrinol, 159 (3), pp. 203-208
hcfmusp.relation.referenceSwiglo, B.A., Murad, M.H., Schünemann, H.J., Kunz, R., Vigersky, R.A., Guyatt, G.H., A case for clarity, consistency, and helpfulness: State-of-the-art clinical practice guidelines in endocrinology using the grading of recommendations, assessment, development, and evaluation system (2008) J Clin Endocrinol Metab, 93 (3), pp. 666-673
hcfmusp.relation.referenceSävendahl, L., Pournara, E., Pedersen, B.T., Blankenstein, O., Is safety of childhood growth hormone therapy related to dose? Data from a large observational study (2016) Eur J Endocrinol, 174 (5), pp. 681-691
hcfmusp.relation.referenceJongmans, M.C., van der Burgt, I., Hoogerbrugge, P.M., Noordam, K., Yntema, H.G., Nillesen, W.M., Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation (2011) Eur J Hum Genet, 19 (8), pp. 870-874
hcfmusp.relation.referenceSchubbert, S., Shannon, K., Bollag, G., Hyperactive Ras in developmental disorders and cancer (2007) Nat Rev Cancer, 7 (4), pp. 295-308
hcfmusp.relation.referenceNoonan, J.A., Kappelgaard, A.M., The efficacy and safety of growth hormone therapy in children with Noonan syndrome: A review of the evidence (2015) Horm Res Paediatr, 83 (3), pp. 157-166
hcfmusp.relation.referenceJeong, I., Kang, E., Cho, J.H., Kim, G.H., Lee, B.H., Choi, J.H., Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome (2016) Ann Pediatr Endocrinol Metab, 21 (1), pp. 26-30
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