Rabson-Mendenhall syndrome
From Wikipedia, the free encyclopedia
| Rabson-Mendenhall syndrome Classification and external resources |
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| OMIM | 262190 |
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Rabson-Mendenhall syndrome is a rare insulin receptor disorder[1] characterized by severe insulin resistance, developmental abnormalities, and acanthosis nigricans.[2] A hypertrophic pineal gland has been reported in some cases.[3]
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[edit] 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.[4] The children demonstrated early dentition, a coarse, senile-appearing facies, 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.[4]
Biologically, infants display fasting hypoglycemia, postprandial hyperglycemia and hyperinsulinemia, which progress to permanent hyperglycemia and recurrent diabetic ketoacidosis.
[edit] Pathophysiology
The condition is transmitted as an autosomal recessive trait, and often affects children of consanguineous parents.[3]
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.
[edit] 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.[5]
[edit] References
- ^ Kasuga M, Kadowaki T (1994). "Insulin receptor disorders in Japan". Diabetes Res Clin Pract. 24 (Suppl.): 145–151. doi:. PMID 7859597.
- ^ Rabson-Mendenhall Syndrome. WebMD.com. Retrieved on 2007-03-17.
- ^ a b Rabson-Mendenhall syndrome. orpha.net. Retrieved on 2007-03-17.
- ^ a b Rabson S, Mendenhall E (1956). "Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases". Am J Clin Pathol 26 (3): 283–90. PMID 13302174.
- ^ Cochran E, Young J, Sebring N, DePaoli A, Oral E, Gorden P (2004). "Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome". J Clin Endocrinol Metab 89 (4): 1548–54. doi:. PMID 15070911.
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