Rabson-Mendenhall syndrome

Insilin-resistant diabetes mellitus, with a decrease in the number of insulin receptors, associated with multiple abnormalities and hypertrophy of the pineal body and adrenal cortex. 

 Rabson-Mendenhall syndrome

The symptoms include enlarged genitalia, dental abnormalities /dysplastic teeth, premature totth eruption), protruding abdomen, peculiar facies (bulging forehead, hypertrichosis, skin disorders (dry skin, acanthosis nigricans), thin limbs, narrow or thickened nails, draining absecesses, recurrent infections, and ketoacidosis. The syndrome is familial and is transmitted as an eutosomal recessive trait, often affecting children of consanguineous parents.

More details:  📖 Harrison’s Endocrinology 4th Edition

Rabson-Mendenhall syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. These disorders, which also include Donohue syndrome and type A insulin resistance syndrome, are considered part of a spectrum. Rabson-Mendenhall syndrome is intermediate in severity between Donohue syndrome (which is usually fatal before age 2) and type A insulin resistance syndrome (which is often not diagnosed until adolescence). People with Rabson-Mendenhall syndrome develop signs and symptoms early in life and live into their teens or twenties. Death usually results from complications related to diabetes mellitus, such as a toxic buildup of acids called ketones in the body (diabetic ketoacidosis).

References

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Parker VE, Semple RK. Genetics in endocrinology: genetic forms of severe insulin resistance: what endocrinologists should know. Eur J Endocrinol. 2013 Sep 12;169(4):R71-80. doi: 10.1530/EJE-13-0327. Print 2013 Oct. Review. Citation on PubMed or Free article on PubMed Central

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