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Type:	Artigo de Periódico
Title:	Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients
Authors:	Thais R. Villela Bruna L. Freire Nathalia T. P. Braga Rodrigo R. Arantes Mariana F. A. Funari Alexander A. L. Jorge Ivani Novato Silva
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 homozygous c.1A>T nucleotide substitution in GHR exon 2 in the probands’ samples was identified. Their parents and healthy sister are heterozygous for the same variant that abolishes the translation initiation codon of GHR. This mutation has not been reported in Brazilian patients and was previously associated with an LS phenotype in a single 29-year-old Spanish man. In addition to this case report, we summarize the main characteristics and molecular data of the 21 LS Brazilian patients who have been published to date.
Subject:	Hormônio do Crescimento Receptores da Somatotropina Genética Síndrome de Laron
language:	eng
metadata.dc.publisher.country:	Brasil
Publisher:	Universidade Federal de Minas Gerais
Publisher Initials:	UFMG
metadata.dc.publisher.department:	MED - DEPARTAMENTO DE PEDIATRIA
Rights:	Acesso Aberto
metadata.dc.identifier.doi:	https://doi.org/10.1590/1678-4685-GMB-2018-0197
URI:	http://hdl.handle.net/1843/69089
Issue Date:	2019
metadata.dc.url.externa:	https://www.scielo.br/j/gmb/a/yqRPSWFsQCJvzkRK3DjL5Cp/?lang=en
metadata.dc.relation.ispartof:	Genetics and Molecular Biology
Appears in Collections:	Artigo de Periódico

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