[Laron-type dwarfism: heterogeneity of the biochemical abnormality in 3 children and their parents].
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.
Aguirre
A
A
U. Endocrinologia, Instituto Proagro, Sucre, Bolivie.
Donnadieu
M
M
Job
J C
JC
Chaussain
J L
JL
D000328:Adult; D002352:Carrier Proteins / Q000097:blood* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004393:Dwarfism, Pituitary / Q000151:congenital / Q000235:genetics / Q000378:metabolism*; D013006:Growth Hormone / Q000378:metabolism*; D006801:Humans; D011485:Protein Binding
D002352:Carrier Proteins; D013006:Growth Hormone; C051815:somatotropin-binding protein
Nanisme de type Laron: hétérogénéité de l'anomalie biochimique chez trois enfants et leurs parents.