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| Villela,Thais R.; Freire,Bruna L.; Braga,Nathalia T. P.; Arantes,Rodrigo R.; Funari,Mariana F. A.; Alexander,Jorge A L; Silva,Ivani N.. |
| Abstract Laron’s syndrome (LS) is a rare genetic disorder characterized by insensitivity to growth hormone (GH). Up to the present time, over 70 mutations of GH receptor (GHR) gene have been identified leading to GH/insulin-like growth factor type 1 (IGF1) signaling pathway defect. The number of LS patients worldwide is unknown, as many are probably undiagnosed. We report two sibs from a consanguineous family from Minas Gerais, southeastern Brazil. The parents have three children. The older, a 4-years-old girl was 80.2 cm tall (-5.7 SDS height/age), and the youngest sister, aged 3 years, was 73.2 cm tall (-5.82 SDS height/age). Their clinical and biochemical features are typical of LS patients, such as high serum level of GH and low IGF1 concentrations. A... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Laron Syndrome; Growth hormone; Growth hormone receptor; Genetics. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000500102 |
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