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A 13 year old pubertal Caucasian female presented with longstanding polyuria/polydipsia and weight loss of 12kg over 4 months (BMI decreased from 23 to 17.5kg/m2 despite a 5cm height gain). There was no personal / family autoimmunity history. A paternal grandparent was thought to have type 2 diabetes. She was haemodynamically stable and mildly dehydrated without clinical signs of insulin resistance. She had bilateral stellate posterior subcapsular cataracts. Plasma glucose was 57mmol/L with normal blood ketones and venous pH. HbA1c was 18.2% (175mmol/mol). Mildly elevated urea and creatinine corrected after rehydration. Liver function tests, serum magnesium and urate were normal. Islet autoantibodies were negative.Renal ultrasound (US) identified bilaterally small kidneys (u003c5th centile), with echogenic parenchyma, reduced corticomedullary differentiation, normal cortical thickness and a 5mm left cortical cyst. Urinary albumin/creatinine and calcium/creatinine were normal.Further imaging (US and MRI) demonstrated severe pancreatic atrophy and a mullerian duct anomaly (arcuate / subseptate uterus).Faecal elastase 1 in a soft stool sample was low (range of severe exocrine pancreatic insufficiency). However the patient has gained weight with insulin treatment and had normal measures of fat-soluble vitamins.

international journal of pediatric endocrinology/international journal of pediatric endocrinology

Novel heterozygous deletion in the HNF1β gene - adolescent with antibody negative diabetes, longstanding hyperglycaemia without ketosis, cataracts, small echogenic kidneys with a cortical cyst, pancreatic atrophy, exocrine pancreatic insufficiency and a uterine anomaly