Rabson-Mendenhall syndrome

Common Name(s)

Rabson-Mendenhall syndrome

Rabson-Mendenhall syndrome is a genetic disorder characterized by severe insulin resistance. Insulin, a hormone produced by the pancreas, regulates blood sugar levels by promoting the movement of glucose into cells for energy production or into the liver and fat cells for storage. Symptoms of Rabson-Mendenhall syndrome may include intrauterine and postnatal growth retardation, hypertrophy of muscle and fat tissues, abnormalities of the head and face, abnormalities of the teeth and nails, and skin abnormalities such as acanthosis nigricans. Additional symptoms may also be present. Rabson-Mendenhall syndrome is inherited in an autosomal recessive manner.  Treatment is difficult and may include high doses of insulin and/or recombinant insulin-like growth factor.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Rabson-Mendenhall 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 "Rabson-Mendenhall syndrome" returned 5 free, full-text research articles on human participants. First 3 results:

Syndrome of extreme insulin resistance (Rabson-Mendenhall phenotype) with atrial septal defect: clinical presentation and treatment outcomes.
 

Author(s): Deep Dutta, Indira Maisnam, Sujoy Ghosh, Satinath Mukhopadhyay, Subhankar Chowdhury

Journal: J Clin Res Pediatr Endocrinol. 2013 ;5(1):58-61.

 

Syndrome of extreme insulin resistance (SEIR) is a rare spectrum disorder with a primary defect in insulin receptor signalling, noted primarily in children, and is often difficult to diagnose due to the clinical heterogeneity.SEIR was diagnosed in an adolescent girl with facial dysmorphism,exuberant ...

Last Updated: 9 Apr 2013

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Rabson-Mendenhall syndrome.
 

Author(s): J Gupta, Jonathan M Daniel, V Vasudevan

Journal: J Indian Soc Pedod Prev Dent. ;30(3):279-82.

 

Rabson-Mendenhall syndrome is a rare, autosomal recessive disorder affecting insulin receptor. This disorder is characterized by insulin-resistant diabetes mellitus, hyperinsulinemia, deficiency of subcutaneous fat, acanthosis nigrican, growth retardation, coarse and senile appearance, ...

Last Updated: 24 Dec 2012

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Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence.
 

Author(s): Doosoo Kim, Sung Yoon Cho, Sung-Hee Yeau, Sung Won Park, Young Bae Sohn, Min-Jung Kwon, Ji-Yeon Kim, Chang-Seok Ki, Dong-Kyu Jin

Journal: J. Korean Med. Sci.. 2012 May;27(5):565-8.

 

Rabson-Mendenhall syndrome (RMS) is a rare syndrome manifested by extreme insulin resistance with hyperinsulinemia, acanthosis nigricans, tooth dysplasia and growth retardation. Our patient was first noted at the age of 8 months due to pigmentations on skin-folded areas. Initial laboratory ...

Last Updated: 7 May 2012

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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 "Rabson-Mendenhall syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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