Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Rabson-Mendenhall syndrome

A rare syndrome that belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).

Diabetes mellitus

A group of abnormalities characterized by hyperglycemia and glucose intolerance.

Total: 1

(per page)

PMID (PMCID)
24468607	FEMALE
	Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome.
	Dominguez-Garcia A, Martinez R, Urrutia I, Garin I, Castano L. J Pediatr Endocrinol Metab. 2014;27(5-6):561-4.
	We describe a 12-year-old girl with type A insulin resistance with hyperandrogenism, hyperinsulinemia, and diabetes mellitus but without the dysmorphic characteristic of leprechaunism or Rabson-Mendenhall syndrome.