+ Site Statistics
References:
52,654,530
Abstracts:
29,560,856
PMIDs:
28,072,755
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

Laron-type dwarfism: heterogeneity of the biochemical abnormality in 3 children and their parents



Laron-type dwarfism: heterogeneity of the biochemical abnormality in 3 children and their parents



Comptes Rendus de l'Academie des Sciences. Serie Iii, Sciences de la Vie 311(9): 315-319



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.

(PDF emailed within 1 workday: $29.90)

Accession: 040552093

Download citation: RISBibTeXText

PMID: 2128202


Related references

High-affinity serum growth-hormone-binding protein, absent in Laron-type dwarfism, is diminished in heterozygous parents. Hormone Research 34(1): 4-8, 1990

Biochemical and hormonal changes induced by one week of administration of rIGF-I to patients with Laron type dwarfism. Clinical Endocrinology 35(2): 145-150, 1991

Somatomedin deficiency laron type dwarfism in eskimo children. Clinical Research 26(6): 845A, 1978

Syndrome of familial dwarfism and high plasma immuno reactive growth hormone laron type dwarfism. Paediatrician 6(2): 106-117, 1977

Carbohydrate metabolism in the syndrome of familial dwarfism and high plasma immuno reactive growth hormone laron type dwarfism. Podolsky, S. Viswanathan (ed.). Secondary Diabetes: The Spectrum Of The Diabetic Syndromes. Xxi 602p. Raven Press: New York, N.y., Usa. Illus. Maps. P363-372, 1980

Effect of serum from children with isolated human growth hormone deficiency and laron type dwarfism on skin fibroblasts. Pediatric Research 12(2): 154, 1978

Sulfur 35 sulfate incorporation into skin specimens of children with human growth hormone deficiency and laron type dwarfism. Acta Endocrinologica Supplementum 212: 187, 1977

Molecular and biochemical analysis of a genetic isolate with Laron dwarfism. American Journal of Human Genetics 51(4 SUPPL ): A377, 1992

Laron-type dwarfism. Ryoikibetsu Shokogun Shirizu 1993(1): 40-43, 1993

Laron type dwarfism. Nihon Rinsho. Japanese Journal of Clinical Medicine Suppl 1: 94-97, 2006

Dwarfism, Laron type. Ryoikibetsu Shokogun Shirizu 2001(33): 580-581, 2001

Laron-type dwarfism in Ecuador. Mornex, R, Jaffiol, C, Leclere, J International Congress Symposium and Seminar Series; Progress in endocrinology 265-267, 1993

Puberty in laron type dwarfism. European Journal of Pediatrics 134(1): 79-84, 1980

Laron-type dwarfism A case report. Laron, Z , Parks, J S Pediatric and Adolescent Endocrinology; Lessons from Laron Syndrome (LS) 1966-1992: A model of GH and IGF-1 action and interaction : 65-69, 1993

Pseudohypophyseal laron type dwarfism in 4 patients. Helvetica Paediatrica Acta 40(2-3): 216, 1985