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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

Rossana M. C. Pereira, Manuel H. Aguiar-Oliveira, Alessia Sagazio, Carla R. P. Oliveira, Francielle T. Oliveira, Viviane C. Campos, Catarine T. Farias, Tábita A. R. Vicente, Miburge B. Gois, Joselina L. M. Oliveira, Celi Marques-Santos, Ívina E. S. Rocha (+2 others)
2007 Journal of Clinical Endocrinology and Metabolism  

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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
more » ... tation (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. (J Clin Endocrinol Metab 92
doi:10.1210/jc.2007-0092 pmid:17356054 fatcat:4r7drttirfaaffc3qyv76k2iuq
Citation

Rossana M. C. Pereira, Manuel H. Aguiar-Oliveira, Alessia Sagazio, Carla R. P. Oliveira, Francielle T. Oliveira, Viviane C. Campos, Catarine T. Farias, Tábita A. R. Vicente, Miburge B. Gois, Joselina L. M. Oliveira, Celi Marques-Santos, Ívina E. S. Rocha, José A. S. Barreto-Filho, Roberto Salvatori. "Heterozygosity for a Mutation in the Growth Hormone-Releasing Hormone Receptor Gene Does Not Influence Adult Stature, But Affects Body Composition." Journal of Clinical Endocrinology and Metabolism 92.6 (2007) 2353-2357