Rabson–Mendenhall syndrome

Also, direct actions against other symptoms may be taken (e.g. surgery for facial abnormalities) This syndrome usually affects children and has a prognosis of 1–2 years.

[citation needed] Minor symptoms may include an enlargement of the genitalia and precocious puberty and a deficiency or absence of fat tissue.

[citation needed] The condition is transmitted as an autosomal recessive trait, and often affects children of consanguineous parents.

[citation needed] Researchers have determined that the Rabson–Mendenhall syndrome is caused by mutations of the insulin receptor gene.

Mutations of the insulin-receptor gene lead to an alteration of structure or reduced number of insulin receptors.

Definitive genotype–phenotype correlation for insulin receptor defects is difficult to establish primarily due to the rarity of these syndromes.

[medical citation needed] A combination of clinical findings and laboratory tests are used to diagnose Rabson-Mendenhall Syndrome.

Results from a patient with severe insulin resistance will show values exceeding healthy ranges (≤99 mg/dL for FPG and ≤139 mg/dL for GTT) by over 50 units.

[citation needed] Rabson and Mendenhall described 3 sibling (2 girls, 1 boy) who initially presented with dental and skin abnormalities, abdominal distention, and phallic enlargement.

In the older girl the genitalia were large enough at the age of 6 months to permit vaginal examination for diagnosis of a left ovarian tumor which was removed soon afterward.

Well thought out meals with complex combinations of carbohydrates are put together and assigned to the patient in hope of seeing a constant glucose level maintained.

[medical citation needed] 10.Atray A, Jahnavi S, Thai K, Hiremath P, Anjana R M, Unnikrishnan R, Mohan V, Radha V-Rabson Mendenhall Syndrome; a case report(2013);Journal of Diabetology, June 2013; 2:4.

Rabson–Mendenhall syndrome has an autosomal recessive pattern of inheritance.