Donohue syndrome

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(lep'rĕ-kawn-izm), [MIM*246200]
A congenital form of dwarfism characterized by extreme growth retardation, endocrine disorders, and emaciation, with elfin facies and large, low-set ears; autosomal recessive inheritance; caused by mutation in the insulin receptor gene (INSR) on 19p.
[Irish leprechaun, elf]
Farlex Partner Medical Dictionary © Farlex 2012

Donohue syndrome

A rare genetic disorder caused by severe insulin resistance and characterized by acanthosis nigricans, emaciation, endocrine disorders, hirsutism, and facial features dominated by large wide-set eyes and large low-set ears.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
An autosomal recessive [MIM 246200] polydysmorphic condition with parental consanguinity, which is more common in females—the male foetuses die in utero
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.


William Leslie, Canadian pathologist, 1906-1985.
Donohue disease - a congenital form of dwarfism. Synonym(s): Donohue syndrome; leprechaunism
Donohue syndrome - Synonym(s): Donohue disease
Medical Eponyms © Farlex 2012
References in periodicals archive ?
A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure.
Continuous subcutaneous IGF-1 therapy via insulin pump in a patient with Donohue syndrome. J Pediatr Endocrinol Metab 2014;27:1237-1241.
Severe insulin resistance develops in Donohue syndrome because of INSR dysfunction.
In patients with Donohue syndrome, intracellular uptake of glucose is disrupted, insulin-dependent adipose-muscle tissues are lost and not replaced, and atrophy develops.
Therefore, hyperinsulinism causes pseudoacromegalic growth in many soft tissues, although severe growth retardation is found in patients with Donohue syndrome. This condition is especially prominent in androgen-dependent tissues (2).
It has been reported that insulin at a very high dose was used for hyperglycemia in some patients with Donohue syndrome (4, 5).
Use of rIGF-1 is recommended in patients with Donohue syndrome. However, experience in use of rIGF-1 is limited.
Donohue syndrome is caused by homozygous and compound heterozygous loss-of-function mutations in the INSR gene (2, 3).
It has been reported that families with a risk of having a child with Donohue syndrome could have healthy children with preimplantation genetic analysis (10).
However, that delight quickly turned to dread when they were told there was a possibility that the baby could also have Donohue Syndrome.
DONOHUE Syndrome is a rare and severe genetic disorder caused by mutations in the insulin receptor.
Donohue Syndrome is a disorder that causes low birth weight, unusual facial features and a failure to thrive in infants.