Laron syndrome
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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
Overview
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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.
References
Historical Perspective
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
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]
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.
Classification
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Pathophysiology
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
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.
References
Causes
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References
Differentiating Laron Syndrome from other Diseases
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Epidemiology and Demographics
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
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.
References
Risk Factors
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Natural History, Complications and Prognosis
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Diagnosis
History and Symptoms | Physical Examination | Laboratory Findings | CT | MRI | Ultrasound | Other Imaging Findings | Other Diagnostic Studies
Treatment
Treatment
Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies
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