Abstract
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.
Highlights
The Rabson Mendenhall Syndrome (RMS) was first described by Rabson and Menden-hall in 1956
A number of syndromes are associated with insulin resistance like Type A and Type B insulin resistance syndromes, Leprechaunism, Lipodystrophy and Rabson Mendenhall syndrome (RMS), out of which type A insulin resistance syndrome, leprechaunism and RMS are caused by mutations in the insulin receptor gene
The more appropriate definition may be that insulin resistance exists whenever normal concentrations of insulin produce less than normal biological responses described by Kahn in 1976 with respect to glucose uptake, suppression of hepatic glucose production, decreased lipolysis, increased lipogenesis and prevention of proteolysis [13]
Summary
The Rabson Mendenhall Syndrome (RMS) was first described by Rabson and Menden-hall in 1956 They described three siblings with Insulin resistant diabetes mellitus having characteristic facial, skin, skeletal and dental features [1], The other names of this condition are pineal hyperplasia and diabetes mellitus syndrome and pineal hyperplasia, insulin resistant diabetes mellitus and somatic abnormalities. Homozygous mutations in Insulin receptor gene (INSR) are responsible for this syndrome [2]. Mutations in the insulin receptor gene produce a spectrum of diseases including Donohue’s syndrome (leprechaunism), Rabson Mendenhall syndrome and type A insulin resistance; patients with these conditions have several different characteristics [4]. Mutations in the INSR gene cause inherited insulin-resistance syndromes (i.e. abnormal glucose homeostasis, acanthosis nigricans and ovarian hyperandrogenism (which range from mild to severe). Dental abnormalities, enlarged phallus in males, clitoromegaly and multiple cysts on the ovaries in females, enlargement of nipples, genitalia, kidneys (nephromegaly), heart and other organs as penis in males, nephrocalcinosis, paradoxical fasting hypoglycemia, postprandial hyperglycemia, severe insulin resistance and hyperinsulinemia are other associated findings [7, 8]
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