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. (Contributing 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.
Read more about this topic: Donohue Syndrome
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