hrp0086p1-p691 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Neonatal Diabetes and Congenital Hypothyroidism, a Rare Condition: Report of 2 Cases with Different Genetic Causes

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...

hrp0086p1-p227 | Diabetes P1 | ESPE2016

Rising of Type 1 Diabetes Mellitus Incidence in Chilean Children Between 2006 and 2014

Garfias Carolina , Garcia Hernan , Ugarte Francisca , Martin Yonathan San , Bortzuski Arturo , Cerda Jaime

Background: T1DM incidence in children varies across regions and countries, showing a continue rise Worldwide.Objective and hypotheses: To determine the incidence of T1D in Chilean children under 20 years between 2006 and 2012.Method: We reviewed mandatory notifications of T1D (GES Program) in Chile’s public health system in population younger than 20 years between 2006 and 2014. Data were obtained from the Department of Infor...

hrp0086p2-p572 | Perinatal Endocrinology P2 | ESPE2016

Sirolimus Therapy in Infant with Congenital Hyperinsulinemic Hypoglycemia Unresponsive to Diaxoside

Garfias Carolina , Godoy Claudia , Rumie Karime , Lacourt Patricia , Basaure Javiera , Garcia Angelica

Background: Hyperinsulinemic hypoglycemia (HH) is the most common cause of severe, persistent neonatal hypoglycemia. Treatment of diffuse forms that is unresponsive to diazoxide and octreotide is near total pancreatectomy.Objective: To describe the clinical characterization of a newborn with congenital HH due to a diffuse pancreas lesion and unresponsive to diaxoside.Case report: Preterm term male of 33 weeks born to non-consanguin...