hrp0086p1-p691 | Endocrinology and Multisystemic Diseases P1 | ESPE2016
Mendoza Carolina
, Garfias Carolina
, Seiltgens Cristian
, Silva Ricardo
, Hodgson Isabel
, Ugarte Francisca
, Flanagan Sarah
, Ellard Sian
, Garcia Hernan
Background: Neonatal diabetes (ND) is a rare monogenic form of diabetes presenting within the first six months of life. The most frequent causes include mutations in KCNJ11, ABCC8 and insulin genes, but up to 40% of patients remain without a molecular genetic diagnosis.Case presentation: Case 1: a female newborn of non-consanguineous parents, born at 35 weeks, SGA. She presented with hyperglycemia at second day of life...