Leprechaunism.

Abstract

Donahue syndrome is a chromosome recessive inherited disorder. It´s additionally called leprechaunism. Donahue syndrome is because of compound heterozygous or homozygous mutation within the INSR gene. It results in either complete or virtually complete absence of hypoglycaemic agent receptors. Donahue syndrome is the most severe type of hypoglycaemic agent disorder. A 21-year-old male, born to blood- related birth-givers, could be a noted case of Donahue syndrome. He was diagnosed with this syndrome at three years of age. He was a known Type1 diabetic with overstated hyperglycaemia with hyperinsulinism and dysmorphic characteristics and craniofacial abnormalities. Physical examination showed genitomegaly, lipoatrophy (A), abdominal distension, dermal disorders and huge depressed ears with elfin facies (B). Laboratory tests were conducted and the findings disclosed: Plasma aldohexose random-339 mg/dl, Blood Urea Nitrogen- 42 mg/dl, Creatinine-3.50 mg/dl, Insulin- >1000 micro-IU/ml and very low Testosterone-19.82 ng/dl. Clinical examinations for complete body systems were additionally performed. Chest X-ray and Echo was traditional. Retinopathy screening showed macular-star in the right eye. Ultrasound abdomen showed accrued cortical echoes in each kidney with reduced corticomedullary differentiation, therefore the patient was also on weekly chemical dialysis. Neurological examinations were intact. Deoxy ribonucleic acid analysis using period-time PCR are frequently used for distinguishing this syndrome. Other diagnosis are Type-A syndrome and Rabson Mildenhall syndrome. Treatment needs efforts from endocrinologists, dermatologists and numerous medical professionals. Treatment with insulin-like protein one can also be contemplated.