[Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation].
Approximately 10% of children born small-for-gestational age (SGA) do not show spontaneous growth catch-up. The causes of this deficit in prenatal growth and its maintenance after birth are not completely known, in most cases. Over the past eight years, several heterozygous inactivating mutations and deletions in IGF1R gene have been reported, indicating the role of defects in the IGFs/IGF1R axis as a cause of growth deficit. It has been hypothesized that at least 2.5% of children born SGA may have IGF1R gene defects. The clinical presentation of these patients is highly variable in the severity of growth retardation and hormonal parameters. In the most evident cases, patients have microcephaly, mild cognitive impairment and high levels of IGF-1, associated with short stature of prenatal onset. This review will describe the clinical, molecular and treatment of short stature with hrGH of children with mutations in the IGF1R gene.
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, São Paulo, Brasil.
Andréa de Castro
Ade C
Leal
Ana Pinheiro Machado
AP
Canton
Luciana Ribeiro
LR
Montenegro
Débora Cabral
DC
Coutinho
Ivo Jorge Prado
IJ
Arnhold
Alexander Augusto de Lima
AA
Jorge
D005317:Fetal Growth Retardation / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age / Q000254:growth & development; D009154:Mutation / Q000235:genetics*; D017526:Receptor, IGF Type 1 / Q000235:genetics*
D017526:Receptor, IGF Type 1