Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients

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dc.creatorThais R. Villela
dc.creatorBruna L. Freire
dc.creatorNathalia T. P. Braga
dc.creatorRodrigo R. Arantes
dc.creatorMariana F. A. Funari
dc.creatorAlexander A. L. Jorge
dc.creatorIvani Novato Silva
dc.date.accessioned2024-06-11T15:43:45Z
dc.date.accessioned2025-09-09T00:59:32Z
dc.date.available2024-06-11T15:43:45Z
dc.date.issued2019
dc.description.sponsorshipCNPq - Conselho Nacional de Desenvolvimento Científico e Tecnológico
dc.description.sponsorshipFAPESP - Fundação de Amparo à Pesquisa do Estado de São Paulo
dc.format.mimetypepdf
dc.identifier.doihttps://doi.org/10.1590/1678-4685-GMB-2018-0197
dc.identifier.issn1678-4685
dc.identifier.urihttps://hdl.handle.net/1843/69089
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofGenetics and Molecular Biology
dc.rightsAcesso Aberto
dc.subjectHormônio do Crescimento
dc.subjectReceptores da Somatotropina
dc.subjectGenética
dc.subjectSíndrome de Laron
dc.subject.otherLaron Syndrome
dc.subject.otherGrowth hormone
dc.subject.otherGrowth hormone receptor
dc.subject.otherGenetics
dc.titleGrowth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients
dc.typeArtigo de periódico
local.citation.epage6
local.citation.issue4
local.citation.spagee20180197
local.citation.volume42
local.description.resumoLaron’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.
local.identifier.orcidhttps://orcid.org/0000-0001-7133-863X
local.identifier.orcidhttps://orcid.org/0000-0003-2567-7360
local.identifier.orcidhttps://orcid.org/0000-0002-3585-4917
local.publisher.countryBrasil
local.publisher.departmentMED - DEPARTAMENTO DE PEDIATRIA
local.publisher.initialsUFMG
local.url.externahttps://www.scielo.br/j/gmb/a/yqRPSWFsQCJvzkRK3DjL5Cp/?lang=en

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