Leprechaunism syndromeE34.8

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

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Synonym(s)

Donohue Syndrome; leprechaunism

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HistoryThis section has been translated automatically.

Donohue, 1948

DefinitionThis section has been translated automatically.

Autosomal recessive complex malformation syndrome with anomaly of the female external genitals, exophthalmos (frequent), failure to thrive (very frequent), gynecomastia (very frequent), hyperglycaemia/non-insulin-dependent diabetes mellitus (very frequent), hyperinsulinism (very frequent), susceptibility to infection (very frequent), macropenis, Short stature, large/protruding nostrils, large/long ears, small face (faun-face), severe mental retardation, full/thick lips, excess neck skin, hypertrichosis, sunken nasal root, testicular ectopy/cryptorchidism, microcephaly, umbilical hernia, high/narrow palate, hypotonic/missing abdominal wall muscles.

EtiopathogenesisThis section has been translated automatically.

Autosomal recessive mutations of the insulin receptor gene (INSR gene; gene locus: 19p13.2) with consecutive defects of the insulin receptor.

Differential diagnosisThis section has been translated automatically.

Acanthosis nigricans benigna; Acanthosis nigricans maligna; Pfaundler-Hurler disease; Scheie disease; Lawrence syndrome.

Progression/forecastThis section has been translated automatically.

Often lethal.

LiteratureThis section has been translated automatically.

  1. Donohue WL (1948) Dysendocrinism. J Pediat 32: 739-748
  2. Donohue WL, Uchida IA (1954) Leprechaunism: a euphuism for a rare familial disorder. J Pediat 45: 505-519
  3. Hone J et al (1995) Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism. Hum mutation 6: 17-22
  4. Whitehead JP et al (1998) Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome. Diabetes 47: 1362-1364

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer