Rabson-Mendenhall syndrome

Rabson-Mendenhall syndrome

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Rabson-Mendenhall syndrome is a rare insulin receptor disordercite journal |author=Kasuga M, Kadowaki T |title=Insulin receptor disorders in Japan |journal=Diabetes Res Clin Pract. |volume=24 |issue=Suppl. |pages=145–151 |year=1994 |pmid=7859597 |doi=10.1016/0168-8227(94)90242-9] characterized by severe insulin resistance, developmental abnormalities, and acanthosis nigricans. [cite web | title = Rabson-Mendenhall Syndrome| publisher = WebMD.com | url = http://children.webmd.com/Rabson-Mendenhall-Syndrome | accessdate = 2007-03-17] A hypertrophic pineal gland has been reported in some cases.cite web | title = Rabson-Mendenhall syndrome| publisher = orpha.net| url = http://www.orpha.net/static/GB/rabsonmendenhall_syndrome.html | accessdate = 2007-03-17]

Clinical presentation

Rabson and Mendenhall described 3 siblings (2 girls, 1 boy) who initially presented with dental and skin abnormalities, abdominal distention, and phallic enlargement.cite journal |author=Rabson S, Mendenhall E |title=Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases |journal=Am J Clin Pathol |volume=26 |issue=3 |pages=283–90 |year=1956 |pmid=13302174] The children demonstrated early dentition, a coarse, senile-appearing , and striking hirsutism. An "adult growth of hair of head" at 5 years of age was pictured in the case of one of the girls. 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. The children were mentally precocious. Prognathism and very thick fingernails as well as acanthosis nigricans were also described. Insulin-resistant diabetes developed, and the patients died during childhood of ketoacidosis and intercurrent infections. At necropsy pineal hyperplasia was found in all three.

Biologically, infants display fasting hypoglycemia, postprandial hyperglycemia and hyperinsulinemia, which progress to permanent hyperglycemia and recurrent diabetic ketoacidosis.

Pathophysiology

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

As in leprechaunism, of which Rabson-Mendenhall syndrome represents less severe form, the condition is caused by molecular modification of both alleles of the insulin-receptor gene.

Treatment

Treatment of Rabson-Mendenhall syndrome with pharmacologic doses of human leptin may result in improvement of fasting hyperglycemia, hyperinsulinemia, basal glucose, and glucose and insulin tolerance.cite journal |author=Cochran E, Young J, Sebring N, DePaoli A, Oral E, Gorden P |title=Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome |journal=J Clin Endocrinol Metab |volume=89 |issue=4 |pages=1548–54 |year=2004 |pmid=15070911 |doi=10.1210/jc.2003-031952]

References


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