A case of leprechaunism and an analysis of some clinical manifestations of this syndrome.
A case of Leprechaunismm is reported. The parents were not consanguineous. The patient had two female and one male sibling. The patient was female and one sister was normal but the brother was also affected by Leprechaunismm. Another sister was possibly affected by Leprechaunis. The laboratory and autopsy examination showed various abnormal results, but few correlation was noted between the findings of the investigations and the clinical manifestations. The abnormality of the carbohydrate metabolism in Leprechauism may be due to the delay of insulin-release from pancreatic islets, from the abnormality of insulin receptors, or an abnormality of the biological activity of insulin.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000728:Androgens / Q000378:metabolism; D001786:Blood Glucose / Q000032:analysis; D004392:Dwarfism / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006728:Hormones / Q000652:urine; D006801:Humans; D007231:Infant, Newborn; D007328:Insulin / Q000097:blood; D007684:Kidney Tubules / Q000473:pathology; D008060:Lipodystrophy / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010053:Ovary / Q000473:pathology; D010179:Pancreas / Q000473:pathology; D010808:Physical Examination; D011371:Progeria / Q000175:diagnosis; D013577:Syndrome; D013950:Thymus Gland / Q000473:pathology
D000728:Androgens; D001786:Blood Glucose; D006728:Hormones; D007328:Insulin