Activation of the MAPK pathway (RASopathies) and partial growth hormone insensitivity.
作者： Alexsandra C. Malaquias , Alexander A.L. Jorge
DOI: 10.1016/J.MCE.2020.111040
关键词: Endocrinology 、 Internal medicine 、 Growth hormone secretion 、 Noonan syndrome 、 STAT5B 、 Growth hormone 、 Pathophysiology 、 Germline mutation 、 Biology 、 Gene 、 MAPK/ERK pathway
摘要: RASopathies are a heterogeneous group of syndromes caused by germline mutations in genes encoding components the RAS/MAPK pathway. Postnatal short stature is cardinal feature RASopathies. Although pathophysiology these conditions not fully understood to date, growth hormone insensitivity one possibility, based on observation low IGF-1 values, generally preserved GH secretion and suboptimal response recombinant human therapy. In this review, we will discuss clinical experimental evidence patients with Noonan syndrome other RASopathies, as well their molecular basis.
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