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).

Hyperinsulinemia

An increased concentration of insulin in the blood.


Total: 5

                       


(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.
22563226
(3342552)
 MALE Infant
Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence.
Kim D, Cho SY, Yeau SH, Park SW, Sohn YB, Kwon MJ, Kim JY, Ki CS, Jin DK.
J Korean Med Sci. 2012;27(5):565-8.
Rabson-Mendenhall syndrome (RMS) is a rare syndrome manifested by extreme insulin resistance with hyperinsulinemia, acanthosis nigricans, tooth dysplasia and growth retardation.
17849153
 MALE Child
Rabson-Mendenhall syndrome: medullary sponge kidney, a new component.
Harris AM, Hall B, Kriss VM, Fowlkes JL, Kiessling SG.
Pediatr Nephrol. 2007;22(12):2141-4.
Rabson-Mendenhall syndrome is a rare genetic disorder characterized by severe insulin resistance, extreme hyperinsulinemia, postprandial hyperglycemia, growth retardation, and dysmorphisms.
17560154
 MIXED_SAMPLE Infant
Severe deficiencies of IGF-I, IGF-II, IGFBP-3, ALS and paradoxically high-normal bone mass in a child with insulin-resistance syndrome (Rabson-Mendenhall type).
Fowlkes JL, Bunn RC, Coleman HN, Hall B, Reid MC, Thrailkill KM.
Growth Horm IGF Res. 2007;17(5):399-407.
Rabson-Mendenhall syndrome is a rare genetic disorder characterized by severe insulin resistance and hyperinsulinemia due to defects in signaling through the insulin receptor.
16127220
 FEMALE Child
A nonsense mutation in the Arg345 of the insulin receptor gene in a Japanese type A insulin-resistant patient.
Hashiramoto M, Osawa H, Ando M, Murakami A, Nishimiya T, Nakano M, Nishida W, Onuma H, Makino H.
Endocr J. 2005;52(4):499-504.
We have studied a 10-year-old Japanese girl with type A insulin resistance with hirsutism and hyperinsulinemia but without the dysmorphic features characteristic of leprechaunism or Rabson-Mendenhall syndrome.