Growth failure and experience with growth hormone therapy in noonan syndrome

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2019
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Malaquias, 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.
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Noonan 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.
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Growth hormone, Noonan syndrome, RAS/MAPK, RASopathies, Short stature
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https://observatorio.fm.usp.br/handle/OPI/51070
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