Rabson-Mendenhall syndrome
| Rabson-Mendenhall syndrome | |
| OMIM | 262190 |
|---|---|
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Rabson-Mendenhall syndrome is a rare congenital condition characterized by severe insulin resistance, developmental abnormalities, and acanthosis nigricans.[1] A hypertrophic pineal gland has been reported in some cases.[2]
Pathophysiology
As in leprechaunism, of which Rabson-Mendenhall syndrome may represent a less severe form, the condition is caused by molecular modification of both alleles of the insulin-receptor gene.
Genetics
The condition is transmitted as an autosomal recessive trait and mainly affects children of consanguineous parents.[2]
Diagnosis
History and Symptoms
Rabson and Mendenhall described 3 siblings (2 girls, 1 boy) who initially presented with dental and skin abnormalities, abdominal distention, and phallic enlargement.[3] 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.[3]
Biologically, infants display fasting hypoglycemia, postprandial hyperglycemia and hyperinsulinemia, which progress to permanent hyperglycemia and recurrent diabetic ketoacidosis.
Treatment
Cochran et al. reported that treatment of 2 sibs with Rabson-Mendenhall syndrome with pharmacologic doses of human leptin resulted in improvement of fasting hyperglycemia, hyperinsulinemia, basal glucose, and glucose and insulin tolerance.[4]
References
- ↑ "Rabson-Mendenhall Syndrome". WebMD.com. Retrieved 2007-03-17.
- ↑ 2.0 2.1 "Rabson-Mendenhall syndrome". orpha.net. Retrieved 2007-03-17.
- ↑ 3.0 3.1 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. PMID 15070911.