Donohue syndrome (Leprechaunism) is an autosomal recessive disorder caused by a loss-of-function mutations in the insulin receptor gene. The clinical picture includes intra-uterine and postnatal growth restriction, lipo-atrophy, characteristic facial features, acanthosis nigricans, abnormal glucose homeostasis and severe insulin resistance.
Acanthosis nigricans | |
![]() |
Insulin resistance in leprechaunism is accompanied by acanthosis nigricans. |
1. |
al-Gazali LI et al. (1993) A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents. ![]() |
2. |
Psiachou H et al. (1993) Leprechaunism and homozygous nonsense mutation in the insulin receptor gene. ![]() |
3. |
Taylor SI et al. (1981) Qualitative abnormalities in insulin binding in a patient with extreme insulin resistance: decreased sensitivity to alterations in temperature and pH. ![]() |
4. |
Bier DM et al. (1980) Glucose kinetics in leprechaunism: accelerated fasting due to insulin resistance. ![]() |
5. |
Rosenberg AM et al. (1980) A case of leprechaunism with severe hyperinsulinemia. ![]() |
6. |
Kaplowitz PB et al. (1982) Fibroblasts from a patient with leprechaunism are resistant to insulin, epidermal growth factor, and somatomedin C. ![]() |
7. |
None (1965) Metabolic and chromosomal studies in leprechaunism. ![]() |
8. |
Der Kaloustian VM et al. (1971) Leprechaunism. A report of two new cases. ![]() |
9. |
Kuhlkamp F et al. (1970) [Clinical picture of congenital dysendocrinic disease or leprechaunism]. ![]() |
10. |
Summitt RL et al. (1969) Leprechaunism (Donohue's syndrome): a case report. ![]() |
11. |
Elsas LJ et al. (1985) Leprechaunism: an inherited defect in a high-affinity insulin receptor. ![]() |
12. |
Endo F et al. (1987) Structural analysis of normal and mutant insulin receptors in fibroblasts cultured from families with leprechaunism. ![]() |
13. |
Cantani A et al. (1987) [A rare polydysmorphic syndrome: leprechaunism. Review of 49 cases reported in the literature]. ![]() |
14. |
Geffner ME et al. (1987) Leprechaunism: in vitro insulin action despite genetic insulin resistance. ![]() |
16. |
Schilling EE et al. (1979) Primary defect of insulin receptors in skin fibroblasts cultured from an infant with leprechaunism and insulin resistance. ![]() |
17. |
Reddy SS et al. (1989) Epidermal growth factor receptor defects in leprechaunism. A multiple growth factor-resistant syndrome. ![]() |
18. |
Kobayashi M et al. (1978) Insulin resistance due to a defect distal to the insulin receptor: demonstration in a patient with leprechaunism. ![]() |
19. |
Reddy SS et al. (1989) Molecular defects in the insulin receptor in patients with leprechaunism and in their parents. ![]() |
20. |
CLARK DR et al. (1948) Dysendocrinism. ![]() |
21. |
PATTERSON JH et al. (1962) Leprechaunism in a male infant. ![]() |
22. |
SALMON MA et al. (1963) DYSTROPHIC CHANGES ASSOCIATED WITH LEPRECHAUNISM IN A MALE INFANT. ![]() |
23. |
LAKATOS I et al. (1963) [Leprechaunism (Donohue syndrome)]. ![]() |
24. |
None (1955) Leprechaunism. ![]() |
25. |
DONOHUE WL et al. (1954) Leprechaunism: a euphemism for a rare familial disorder. ![]() |
26. |
Hone J et al. (1994) Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance. ![]() |
27. |
OMIM.ORG article Omim 246200![]() |
28. |
Orphanet article Orphanet ID 508![]() |
29. |
Wikipedia article Wikipedia EN (Donohue_syndrome)![]() |