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 | |
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Insulin resistance in leprechaunism is accompanied by acanthosis nigricans. |
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Orphanet article Orphanet ID 508
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Wikipedia article Wikipedia EN (Donohue_syndrome)
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