Laron syndrome: Difference between revisions
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Revision as of 19:36, 19 September 2012
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Laron syndrome | |
Growth hormone | |
ICD-10 | E34.3 |
ICD-9 | 259.4 |
OMIM | 262500 245590 |
DiseasesDB | 7262 |
MeSH | D046150 |
WikiDoc Resources for Laron syndrome |
Articles |
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Most recent articles on Laron syndrome Most cited articles on Laron syndrome |
Media |
Powerpoint slides on Laron syndrome |
Evidence Based Medicine |
Clinical Trials |
Ongoing Trials on Laron syndrome at Clinical Trials.gov Trial results on Laron syndrome Clinical Trials on Laron syndrome at Google
|
Guidelines / Policies / Govt |
US National Guidelines Clearinghouse on Laron syndrome NICE Guidance on Laron syndrome
|
Books |
News |
Commentary |
Definitions |
Patient Resources / Community |
Patient resources on Laron syndrome Discussion groups on Laron syndrome Patient Handouts on Laron syndrome Directions to Hospitals Treating Laron syndrome Risk calculators and risk factors for Laron syndrome
|
Healthcare Provider Resources |
Causes & Risk Factors for Laron syndrome |
Continuing Medical Education (CME) |
International |
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Business |
Experimental / Informatics |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Phone:617-632-7753 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
Overview
Laron syndrome is a autosomal recessive disorder characterized by an insensitivity to growth hormone (GH), caused by a variant of the growth hormone receptor. It causes short stature.
Historical perspective
It is named after Zvi Laron, the Israeli researcher who, with A. Pertzelan and S. Mannheimer, first reported the condition in 1966[1][2], based upon observations which began in 1958.[3]
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.
Homo floresiensis
Recent publications have proposed that Homo floresiensis represented a population with widespread Laron syndrome.[4][5]
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[6]
- Seizures are frequently secondary to hypoglycemia.
- Some genetic variations have an impact upon intellectual capacity.[7]
Physical Examination
Physical exam findings include:
Treatment
Treatment may include administration of IGF-1.
References
- ↑ Template:WhoNamedIt
- ↑ Laron Z, Pertzelan A, Mannheimer S (1966). "Genetic pituitary dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism?". Isr. J. Med. Sci. 2 (2): 152–5. PMID 5916640.
- ↑ Laron Z (2004). "Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003". J. Clin. Endocrinol. Metab. 89 (3): 1031–44. PMID 15001582.
- ↑ Hershkovitz I, Kornreich L, Laron Z (2007). "Comparative skeletal features between Homo floresiensis and patients with primary growth hormone insensitivity (Laron syndrome)". Am. J. Phys. Anthropol. 134 (2): 198–208. doi:10.1002/ajpa.20655. PMID 17596857.
- ↑ Culotta E (2007). "Paleoanthropology. The fellowship of the hobbit". Science. 317 (5839): 740–2. doi:10.1126/science.317.5839.740. PMID 17690271.
- ↑ 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.