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Laron syndrome
Other Names for this Disease
- Growth hormone insensitivity syndrome
- Growth hormone receptor deficiency
- Laron dwarfism
- Laron type pituitary dwarfism I
- Pituitary dwarfism II
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Overview
Laron syndrome is a disorder chiefly characterized by marked short stature. Signs and symptoms in the newborn period typically include low blood sugar (hypoglycemia) and having an unusually small penis (micropenis). Affected children have slow and disproportionate growth, delayed motor development due to decreased muscle mass, and delayed puberty. Other signs and symptoms include distinctive facial features (protruding and high forehead, shallow eye sockets, underdeveloped nasal bridge and small chin); delayed teething; a high-pitched voice; thin bones and skin; and decreased sweating (hypohidrosis). It is often caused by mutations in the GHR gene and is inherited in an autosomal recessive manner. Treatment focuses on improving growth and includes injections of insulin-like growth factor 1 (IGF-1) and a diet with adequate calories.[1]
References
- J. Léger. Laron syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=633. Accessed November 2, 2011.
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General Information
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Laron syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Laron syndrome. Click on the link to go to OMIM and review these resources.