Rabson-Mendenhall SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Rabson-Mendenhall Syndrome
Rabson-Mendenhall syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. In people with Rabson-Mendenhall syndrome, insulin resistance impairs blood glucose regulation and ultimately leads to a condition called diabetes mellitus, in which blood glucose levels can become dangerously high.
Rabson-Mendenhall syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bloodstream. This binding triggers signaling pathways that influence many cell functions.
Rabson-Mendenhall syndrome is estimated to affect less than 1 per million people worldwide. Several dozen cases have been reported in the medical literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Duke University Affiliated Physicians, Inc.
Allen Smith is a primary care provider, practicing in Family Medicine in Durham, North Carolina. Dr. Smith is rated as a Distinguished provider by MediFind in the treatment of Rabson-Mendenhall Syndrome. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Rabson-Mendenhall Syndrome, Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, and Hypertension. Dr. Smith is board certified in American Board Of Family Medicine, Family Medicine. Dr. Smith is currently accepting new patients.
Wataru Ogawa practices practicing medicine in Kobe, Japan. Mr. Ogawa is rated as an Elite expert by MediFind in the treatment of Rabson-Mendenhall Syndrome. He is also highly rated in 23 other conditions, according to our data. His clinical expertise encompasses SHORT Syndrome, Rabson-Mendenhall Syndrome, Isolated ACTH Deficiency, Gastrectomy, and Sleeve Gastrectomy.
Takeru Ito practices practicing medicine in Hiratsuka, Japan. Mr. Ito is rated as an Elite expert by MediFind in the treatment of Rabson-Mendenhall Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Rabson-Mendenhall Syndrome, Donohue Syndrome, Chronic Recurrent Multifocal Osteomyelitis, and Genetic Epilepsy with Febrile Seizures Plus (GEFS+).
Published Date: December 01, 2014
Published By: National Institutes of Health