Laron syndrome
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| Laron syndrome | |
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| Growth hormone | |
| ICD-10 | E34.3 |
| ICD-9 | 259.4 |
| OMIM | 262500 245590 |
| DiseasesDB | 7262 |
| MeSH | D046150 |
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Laron syndrome Microchapters |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S
Synonyms and keywords: Growth Harmone Receptor Deficiency; Growth hormone insensitivity syndrome; pituitary dwarfism II; Laron syndrome due to postreceptor defect; growth hormone insensitivity due to postreceptor defect; Laron-type dwarfism
Pathophysiology
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 growth factor (IGF-1) and its principal carrier protein, insulin-like growth factor binding protein 3. Laron syndrome is a autosomal recessive disorder.
Epidemiology and Demographics
The majority of reported cases have been of Mediterranean or semitic origin, with numerous patients in Israel, Ecuador, Turkey and in the Bahamas.
Diagnosis
Symptoms
The principal feature of Laron syndrome is abnormally short stature (dwarfism). Symptoms include:
- Truncal obesity[1]
- Seizures are frequently secondary to hypoglycemia.
- Some genetic variations have an impact upon intellectual capacity.[2]
Physical Examination
Physical exam findings include:
Treatment
Treatment may include administration of IGF-1.
References
- ↑ Laron Z, Ginsberg S, Lilos P, Arbiv M, Vaisman N (2006). "Body composition in untreated adult patients with Laron syndrome (primary GH insensitivity)". Clin. Endocrinol. (Oxf). 65 (1): 114–7. doi:10.1111/j.1365-2265.2006.02558.x. PMID 16817829.
- ↑ Shevah O, Kornreich L, Galatzer A, Laron Z (2005). "The intellectual capacity of patients with Laron syndrome (LS) differs with various molecular defects of the growth hormone receptor gene. Correlation with CNS abnormalities". Horm. Metab. Res. 37 (12): 757–60. doi:10.1055/s-2005-921097. PMID 16372230.