ESPE Abstracts

From time to time pediatric endocrinologists may be confronted with paradoxical constellations. Here, we report on a 13-year-old boy with type-1 diabetes. He had polyuria and polydipsia for the previous 2 weeks. Three days before presentation, he got increasingly exhausted and developed recurrent vomiting. At presentation his weight was 41,4 kg (P 25-50) and his height was 154 cm (P 25-50). Initial labs were HbA1c 10.2%, glucose 530 mg/dl, pH 7.15, base excess - 21.1 mmol/l, b...

We report a girl born small for gestational age with a birth weight of 1970g. At the age of 2 years she developed marked dystrophy, height was -4.39 SDS and BMI was -3.1 SDS. Later she developed severe insulin restistance and hyperglycaemia due to compound heterozygous mutations in the insulin receptor gene: exon 16: c.2986A>G (paternal) and intron 9: c.2029+1G>T (maternal). Clinical findings included severe acanthosis nigricans, mild hypertrophic cardiomyopathy, abnorma...