Laron syndrome

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Laron syndrome
Growth hormone
ICD-10 E34.3
ICD-9 259.4
OMIM 262500 245590
DiseasesDB 7262
eMedicine ped/1277 
MeSH D046150

Template:Search infobox 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

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Overview

Laron syndrome, or Laron-type dwarfism, 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.

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

History and Symptoms

The principal feature of Laron syndrome is abnormally short stature (dwarfism). Physical symptoms include:

Treatment

Treatment may include administration of IGF-1.

References

  1. Template:WhoNamedIt
  2. 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.
  3. 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.
  4. 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.
  5. Culotta E (2007). "Paleoanthropology. The fellowship of the hobbit". Science. 317 (5839): 740–2. doi:10.1126/science.317.5839.740. PMID 17690271.
  6. 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.
  7. 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.

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