[Laron-type dwarfism: heterogeneity of the biochemical abnormality in 3 children and their parents]. / Nanisme de type Laron: hétérogénéité de l'anomalie biochimique chez trois enfants et leurs parents.
C R Acad Sci III
; 311(9): 315-9, 1990.
Article
em Fr
| MEDLINE
| ID: mdl-2128202
ABSTRACT
The authors report three cases of Laron-type dwarfism (LTD) having clinical features similar to those of congenital growth hormone (GH) deficiency, but with high levels of plasma GH and a lack of effect of exogenous GH on their growth. The main plasma growth hormone binding protein (GHBP), recently identified and considered as being identical to the extracellular part of the cell receptor to GH, was absent in two of the three patients, and lower than normal in their parents, suggesting a defect of the cell GH receptor. The third patient and his parents had a normal level of GHBP, suggesting a defect limited to the intracellular domain of the receptor or lying beyond the receptor. The conclusion is that there are two different biochemical abnormalities corresponding to LTD.
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Base de dados:
MEDLINE
Assunto principal:
Hormônio do Crescimento
/
Proteínas de Transporte
/
Nanismo Hipofisário
Idioma:
Fr
Ano de publicação:
1990
Tipo de documento:
Article