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Donohue syndrome (also known as Leprechaunism) is an extremely rare and severe genetic disorder. ''Leprechaunism'' derives its name from the fact that those afflicted with the disease often have elfin features and are smaller than usual. Affected individuals have an insulin receptor with greatly impaired functionality. ==Presentation== Facial features indicative of Donohue syndrome include protuberant and low-set ears, flaring nostrils, and thick lips. Physical features include stunted growth (including during gestation), an enlarged clitoris and breasts in affected females, and an enlarged penis in affected males. In the Journal of Pediatric Medicine, Donohue and Uchida described affected sisters whose growth appeared to have ended in the seventh month of gestation, both born alive but dying before four months of age. Very early death (or spontaneous abortion) is the norm, although sufferers sometimes live longer than a decade.〔 As the mutation causing the disorder affects insulin receptor function, those with the disease are also insulin resistant, with hypoglycemia and profound hyperinsulinemia (very high levels of insulin in the blood)〔 Another feature of the disease is that the subcutaneous adipose tissue is markedly diminished, which contributes to the unusual appearance of affected individuals. A much milder form of the disease, in which there is some insulin resistance but normal growth and subcutaneous fat distribution, is also known. It is caused by a less severe mutation of the same gene. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Donohue syndrome」の詳細全文を読む スポンサード リンク
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