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BIBTEX RIS

Longevity in Untreated Congenital Growth Hormone Deficiency Due to a Homozygous Mutation in the GHRH Receptor Gene

2009; Oxford University Press; Volume: 95; Issue: 2 Linguagem: Inglês

10.1210/jc.2009-1879

ISSN

1945-7197

Autores

Manuel H. Aguiar‐Oliveira, Francielle T. Oliveira, Rossana M. C. Pereira, Carla R. P. Oliveira, Amanda L. Blackford, Eugênia H. O. Valença, Elenilde G. Santos, Miburge B. Góis‐Júnior, Rafael Alexandre Meneguz‐Moreno, Vanessa P. Araújo, Luís A. Oliveira-Neto, Roque Pacheco de Almeida, Mário A. Santos, Natália T. Farias, Débora Consuelo Rocha Silveira, Gabriel W. Cabral, Flavia R. Calazans, Juliane Dantas Seabra-Garcez, Tiago Falcón, Endrigo O. Rodrigues, Lívia Amorim Porto, Igor Pereira Oliveira, Enaldo Vieira de Melo, Marco Martari, Roberto Salvatori,

Tópico(s)

Diet and metabolism studies

Resumo

Reduced longevity observed in hypopituitarism has been attributed to GH deficiency (GHD). It is, however, unclear whether GHD or other confounding factors cause this early mortality.The aim was to study longevity in subjects from a large kindred with untreated, lifetime isolated GHD (IGHD) due to a homozygous mutation in the GHRH receptor gene and in heterozygous carriers of the mutation.We carried out a retrospective cohort study on three groups. We first compared mortality risk of 65 IGHD individuals and their 128 unaffected siblings from 34 families. We then compared mean age of death of the IGHD to the general population. A transversal study was carried out to compare the rate of heterozygosity for the mutation in two groups of young (20-40 yr old) and old (60-80 yr old) normal-appearing subjects from the same county.We measured longevity.The risk of death of IGHD subjects was not different from their siblings. Life span in IGHD individuals was shorter than the general population. When stratified by sex, this difference persisted only in females, due to a high frequency of IGHD deaths in females aged 4-20. There was no significant difference in life span between IGHD subjects and siblings or the general population when analyzing subjects who reached age 20. The prevalence of heterozygosity did not differ in young and old groups, suggesting no survival advantage or disadvantage.In a selected genetic background, lifelong untreated IGHD does not affect longevity.

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