Laron syndrome

Common Name(s)

Laron syndrome

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Laron syndrome" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Laron syndrome" returned 26 free, full-text research articles on human participants. First 3 results:

Fanconi Anemia and Laron Syndrome.
 

Author(s): Inma Castilla-Cortazar, Julieta Rodriguez de Ita, Gabriel Amador Aguirre, Fabiola Castorena-Torres, Jesús Ortiz-Urbina, Mariano García-Magariño, Rocío García de la Garza, Carlos Diaz Olachea, Martha Irma Elizondo Leal

Journal: Am. J. Med. Sci.. 2017 05;353(5):425-432.

 

Fanconi anemia (FA) is a condition characterized by genetic instability and short stature, which is due to growth hormone (GH) deficiency in most cases. However, no apparent relationships have been identified between FA complementation group genes and GH. In this study, we thereby ...

Last Updated: 31 Dec 1969

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Fifty years on: New lessons from Laron syndrome.
 

Author(s): Haim Werner, Lena Lapkina-Gendler, Zvi Laron

Journal: Isr. Med. Assoc. J.. 2017 Jan;19(1):6-7.

 

Last Updated: 31 Dec 1969

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Identification of signaling pathways associated with cancer protection in Laron syndrome.
 

Author(s): Lena Lapkina-Gendler, Itai Rotem, Metsada Pasmanik-Chor, David Gurwitz, Rive Sarfstein, Zvi Laron, Haim Werner

Journal: Endocr. Relat. Cancer. 2016 05;23(5):399-410.

 

The growth hormone (GH)-insulin-like growth factor-1 (IGF1) pathway emerged in recent years as a critical player in cancer biology. Enhanced expression or activation of specific components of the GH-IGF1 axis, including the IGF1 receptor (IGF1R), is consistently associated with a ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Laron syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report.
 

Author(s): Stefania Moia, Daniele Tessaris, Silvia Einaudi, Luisa de Sanctis, Gianni Bona, Simonetta Bellone, Flavia Prodam

Journal:

 

Mutations localized in the Growth Hormone Receptor (GHR) gene are often associated with the pathogenesis of Laron Syndrome, an autosomal recessive hereditary disorder characterized by severe growth retardation. Biochemically, patients present normal to high circulating GH levels, ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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