Rabson-Mendenhall syndrome

Jump to navigation Jump to search
The printable version is no longer supported and may have rendering errors. Please update your browser bookmarks and please use the default browser print function instead.
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.

Template:Disease-stub

Template:WikiDoc Sources