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Heterozygosity for a mutation in the growth hormone-releasing hormone receptor gene does not influence adult stature, but affects body composition.
Pereira, Rossana M C; Aguiar-Oliveira, Manuel H; Sagazio, Alessia; Oliveira, Carla R P; Oliveira, Francielle T; Campos, Viviane C; Farias, Catarine T; Vicente, Tábita A R; Gois, Miburge B; Oliveira, Joselina L M; Marques-Santos, Celi; Rocha, Ivina E S; Barreto-Filho, José A S; Salvatori, Roberto.
Afiliação
  • Pereira RM; Division of Endocrinology, Johns Hopkins University, Baltimore, MD 21287, USA.
J Clin Endocrinol Metab ; 92(6): 2353-7, 2007 Jun.
Article em En | MEDLINE | ID: mdl-17356054
CONTEXT: Biallelic mutations in the GHRH receptor (GHRHR) gene (GHRHR) are a frequent cause of isolated GH deficiency (IGHD). Although heterozygous carriers of these mutations appear normal, we hypothesized that heterozygosity for a GHRHR mutation might be associated with a subclinical phenotype. METHODS: We studied members of a large Brazilian kindred with IGHD (Itabaianinha cohort) caused by a homozygous null GHRHR mutation. We compared 76 adult subjects (age, 25-75 yr) heterozygous for the mutation (WT/MT) with 77 sex-matched controls from the same population who are homozygous for the wild-type GHRHR allele (WT/WT). RESULTS: We found no difference in adult height and sd score for serum IGF-I between the two groups. Body weight, body mass index, skin folds, waist and hip circumferences, and lean mass were all reduced in WT/MT subjects. Percentage fat mass and waist/hip ratio were similar in the two groups. Fasting insulin and homeostasis model assessment of insulin resistance were lower in WT/MT. The other biochemical parameters [total and fractionated cholesterol, triglycerides, lipoprotein (a), and C-reactive protein] were not different between the two groups. CONCLUSIONS: Heterozygosity for a null GHRHR mutation is not associated with reduction in adult stature or in serum IGF-I but is associated with changes in body composition and possibly an increase in insulin sensitivity. These effects do not seem to be modulated by changes in circulating IGF-I.
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Composição Corporal / Estatura / Receptores de Hormônios Reguladores de Hormônio Hipofisário / Receptores de Neuropeptídeos / Heterozigoto Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: America do sul / Brasil Idioma: En Revista: J Clin Endocrinol Metab Ano de publicação: 2007 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Buscar no Google
Adicionar na Minha BVS
Imprimir
XML
PubMed Links

Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Composição Corporal / Estatura / Receptores de Hormônios Reguladores de Hormônio Hipofisário / Receptores de Neuropeptídeos / Heterozigoto Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: America do sul / Brasil Idioma: En Revista: J Clin Endocrinol Metab Ano de publicação: 2007 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos