hrp0089p1-p081 | Diabetes & Insulin P1 | ESPE2018

ZFP57-associated Transient Neonatal Diabetes is Responsive to Oral Sulfonylurea Treatment

Reinauer Christina , Jonasson Annemarie , Harmsen Stefani , Debinski Pierre , Soditt Volker , van Afferden Sonia , Mayatepek Ertan , Bergmann Carsten , Meissner Thomas , Kummer Sebastian

Background: Transient neonatal diabetes (TNDM) is commonly caused by a methylation loss in the 6q24 region, either in isolation or as multiple-loci demethylation due to ZFP57 gene mutation. TNDM is biphasic; usually resolves after 2–3 months but often recurs between age 4 and late adolescence.Case: The boy was born at 38 weeks of gestation (birth weight 3340 g, healthy consanguineous Turkish parents, unremarkable pregnancy). He presented at...