Rabson-Mendenhall syndrome

Jump to: navigation, search
Rabson-Mendenhall syndrome
OMIM 262190

WikiDoc Resources for Rabson-Mendenhall syndrome

Articles

Most recent articles on Rabson-Mendenhall syndrome

Most cited articles on Rabson-Mendenhall syndrome

Review articles on Rabson-Mendenhall syndrome

Articles on Rabson-Mendenhall syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Rabson-Mendenhall syndrome

Images of Rabson-Mendenhall syndrome

Photos of Rabson-Mendenhall syndrome

Podcasts & MP3s on Rabson-Mendenhall syndrome

Videos on Rabson-Mendenhall syndrome

Evidence Based Medicine

Cochrane Collaboration on Rabson-Mendenhall syndrome

Bandolier on Rabson-Mendenhall syndrome

TRIP on Rabson-Mendenhall syndrome

Clinical Trials

Ongoing Trials on Rabson-Mendenhall syndrome at Clinical Trials.gov

Trial results on Rabson-Mendenhall syndrome

Clinical Trials on Rabson-Mendenhall syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Rabson-Mendenhall syndrome

NICE Guidance on Rabson-Mendenhall syndrome

NHS PRODIGY Guidance

FDA on Rabson-Mendenhall syndrome

CDC on Rabson-Mendenhall syndrome

Books

Books on Rabson-Mendenhall syndrome

News

Rabson-Mendenhall syndrome in the news

Be alerted to news on Rabson-Mendenhall syndrome

News trends on Rabson-Mendenhall syndrome

Commentary

Blogs on Rabson-Mendenhall syndrome

Definitions

Definitions of Rabson-Mendenhall syndrome

Patient Resources / Community

Patient resources on Rabson-Mendenhall syndrome

Discussion groups on Rabson-Mendenhall syndrome

Patient Handouts on Rabson-Mendenhall syndrome

Directions to Hospitals Treating Rabson-Mendenhall syndrome

Risk calculators and risk factors for Rabson-Mendenhall syndrome

Healthcare Provider Resources

Symptoms of Rabson-Mendenhall syndrome

Causes & Risk Factors for Rabson-Mendenhall syndrome

Diagnostic studies for Rabson-Mendenhall syndrome

Treatment of Rabson-Mendenhall syndrome

Continuing Medical Education (CME)

CME Programs on Rabson-Mendenhall syndrome

International

Rabson-Mendenhall syndrome en Espanol

Rabson-Mendenhall syndrome en Francais

Business

Rabson-Mendenhall syndrome in the Marketplace

Patents on Rabson-Mendenhall syndrome

Experimental / Informatics

List of terms related to Rabson-Mendenhall syndrome

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]

Laboratory Findings

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

  1. "Rabson-Mendenhall Syndrome". WebMD.com. Retrieved 2007-03-17.
  2. 2.0 2.1 "Rabson-Mendenhall syndrome". orpha.net. Retrieved 2007-03-17.
  3. 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.
  4. 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.



Linked-in.jpg