[Growth or somatotrophic hormone: new perspectives in isolated GH deficiency after description of the mutation in the GHRH receptor gene in individuals of Itabaianinha County, Brazil].
In addition to stimulating body growth, growth or somatotrophic hormone plays an important role in metabolism, body composition, lipid profile, cardiovascular status and longevity. Its control is multiregulated by hormones, metabolites and hypothalamic peptides. Obtained data of the isolated growth hormone deficiency (IGHD) after the description of the IVS1+1G-->A GHRH receptor gene mutation in individuals of Itabaianinha County are reviewed. New perspectives about the growth hormone resistance model, the importance of GHRH in the control of GH secretion, the frequency of GHRH-R gene mutations, the diagnostic relevance of IGF-I and the metabolic, cardiovascular and quality of life findings are approached.
Souza
Anita Hermínia O
AH
Serviço de Endocrinologia, Hospital Universitário, Universidade Federal de Sergipe, Aracaju, SE.
Salvatori
Roberto
R
Martinelli
Carlos E
CE
Carvalho
Walter M O
WM
Menezes
Carlos A
CA
Barretto
Elenilde S de A
ES
Barreto Filho
José A S
JA
Alcântara
Marta R S de
MR
Oliveira
Carla R P
CR
Alcântara
Paula R S de
PR
Ramalho
Roberto J R
RJ
Oliveira
Hélio A
HA
Lima
Ivana B de
IB
Carneiro
Jamille N
JN
Santos
Marcos M
MM
Gill
Matthew S
MS
Clayton
Peter E
PE
Oliveira
Manuel H A
MH
D000293:Adolescent; D000328:Adult; D001938:Brazil; D002648:Child; D013006:Growth Hormone / Q000172:deficiency*; D013007:Growth Hormone-Releasing Hormone / Q000502:physiology; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000502:physiology; D008875:Middle Aged; D009154:Mutation; D018013:Receptors, Neuropeptide / Q000235:genetics*; D018017:Receptors, Pituitary Hormone-Regulating Hormone / Q000235:genetics*
D018013:Receptors, Neuropeptide; D018017:Receptors, Pituitary Hormone-Regulating Hormone; D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone; D013007:Growth Hormone-Releasing Hormone; C048250:somatotropin releasing hormone receptor