ESPE Abstracts

Donohue syndrome (also known as leprechaunism) is an extremely rare and severe autosomal recessive genetic disorder. Leprechaunism derives its name from the fact that people with the disease often have elfin features and are smaller than usual. Leprechaunism is also characterized by abnormalities of the endocrine system ; such abnormalities include hyperinsulinemia. Due to the mutation in Insulin receptor gene, infants with leprechaunism fail to use insulin effectively (insulin resistant). Because of this, they may experience postprandial hyperglycemia and abnormally hypoglycemia when not eating.Additional abnormalities resulting from improper function of the endocrine system include abnormal enlargement of the breast and clitoris in females and the penis in males. In some cases, cysts have formed in the ovaries. Hypertrophic cadiomyopathy may be seen in these patients as in diabetic mother babies.Here we are representing the first reported Egyptian case with this extremely rare disorder . A 5 months old boy born to consanguineous parents with history of dead female infant with the same condition . The patient was presenting with stunted growth, large penis, protuberant nipples, prominant and low-set ears, flaring nostrils, very thick lips and gingival hyperplasia . Hyperinsulinemia due to Insulin resistent was full blown in our patient.

Provisional Diagnosis of leprechaunism was reached thorough clinical evaluation, a detailed patient history, identification of characteristic symptoms and physical findings. The diagnosis required measurement of insulin levels, with a blood test, and confirmation of defective insulin binding on the cells known as fibroblasts.

Molecular testing of the Insulin receptor gene mutation in the index case and parents is recommended for confirmation of our diagnosis . This will aid in providing proper genetic counseling for the family and prenatal diagnosis in upcoming pregnancies.