Genetic disease is caused by a gene change. Genetic disease is one of the types of diseases affecting the personal, family and social life. One of the types of genetic disease is Rabson Mendenhall Syndrome. The Rabson Mendenhall Syndrome (RMS) was first described by Rabson and Menden-hall in 1956. Rabson Mendenhall syndrome is an extremely rare genetic disorder with autosomal recessive inheritance of unknown prevalence that is estimated to affect less than 1 per million people worldwide characterized by severe insulin resistance. The present study is a case report of a patient with Rabson Mendenhall Syndrome in Iran. A 6 year old girl presented with severe hyperglycemia and loss of consciousness and acidosis. In spite of taking large doses of insulin, her sugars were uncontrolled. She had severe acanthosis nigricans. There was associated growth retardation, dental dysplasia, distent abdomen, emaciated extremities and clitoromegaly. In last admission with diabetic ketoacidosis she was treated with intravenous fluids, insulin drip, metformin and also pioglitazone, antibiotics and other supportive treatments as needed, but unfortunately after few days this treatments could not save her and patient expired. There is no complete cure for the condition and the current treatments are difficult and not very promising.
Somayeh Rostami Maskopaii,
Rabson Mendenhall Syndrome; a Case Report and Review of Literature, International Journal of Environmental Chemistry.
Vol. 4, No. 1,
2020, pp. 13-19.
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