Laron syndrome
| Laron syndrome | |
|---|---|
 |
|
| Growth hormone | |
| Classification and external resources | |
| Specialty | endocrinology |
| ICD-10 | E34.3 |
| ICD-9-CM | 259.4 |
| OMIM | 262500 245590 |
| DiseasesDB | 7262 |
| eMedicine | ped/1277 |
| MeSH | D046150 |
| Orphanet | 633 |
Laron's syndrome, or Laron-type dwarfism, is an autosomal recessive disorder characterized by an insensitivity to growth hormone (GH), usually caused by a mutant growth hormone receptor. It causes short stature and an increased sensitivity to insulin which means that they are less likely to develop diabetes mellitus type 2 and possibly cancer as well. It can be treated with injections of recombinant IGF-1.
It is named after Zvi Laron, the Israeli researcher who, with A. Pertzelan and S. Mannheimer, first reported the condition in 1966, based upon observations which began in 1958.
Resistance to GH was first reported by Laron in 1966. Since then, severe resistance to GH, characterized by grossly impaired growth despite normal levels of GH in serum, has been termed Laron syndrome.
Molecular genetic investigations have shown that this disorder is mainly associated with mutations in the gene for the GH receptor. These can result in defective hormone binding to the ectodomain or reduced efficiency of dimerization of the receptor after hormone occupancy. There are exceptionally low levels of insulin-like growth factor (IGF-1) and its principal carrier protein, insulin-like growth factor binding protein 3.
A related condition involving postreceptor insensitivity to growth hormone has been associated with STAT5B.
The majority of reported cases of Laron syndrome have been in people with Semitic origins, almost all of them being Jews or assimilated descendants of Jews.
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Wikipedia