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hrp0092p2-145 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Neonatal Hypo-ketotic Hypoglycemia Secondary to Transient Hyperinsulinism. Diazoxide Responsiveness and Experience with Fasting Test after Treatment Withdrawal

Salamanca Luis , Itza Nerea , Mora Cristina , Dominguez Jesús , de Pipaón Miguel Sáez , Campos Angel , González Isabel

Introduction: Transient hyperinsulinism is described in neonates with stress factors (intrauterine growth restriction (IUGR), large for gestational age (LGA), perinatal asphyxia, infants of diabetic mother etc.). Recognition and early treatment is prioritary to avoid neurological morbidity related with recurrent hypoglycemia.Objective: Describe the incidence of transient hyperinsulinism. Clinical charac...

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hrp0092rfc1.4 | Diabetes and Insulin Session 1 | ESPE2019

Estimation of Mody Frequency and Prevalent Subtypes in Pediatric Patients by Targeted NGS

Salamanca Luis , Kadaoui Maria Al , Guerrero Julio , Carcavilla Atilano , Itza Nerea , Mora Cristina , Barreda Ana Coral , Dominguez Jesús , Vallespín Elena , Pozo Angela Del , Solis Mario , Aragonés Angel , Hermoso Florinda , Ramirez Joaquín , Teresa Muñoz Maria , Garzón Lucía , Rodriguez Amparo , Escribano Arantxa , Gonzalez Isabel , Campos Angel

Though up to fourteen different MODY subtypes have been so far described, there are no studies in the literature which have determined their actual frequency and prevalence in pediatric patients.Objectives: To identify the underlying molecular basis in a cohort of pediatric patients with a suspected clinical diagnosis of MODY by targeted NGS.Materials/Methods: Cohort of 60 patient fulfilling MODY c...

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ESPE Abstracts

Neonatal Hypo-ketotic Hypoglycemia Secondary to Transient Hyperinsulinism. Diazoxide Responsiveness and Experience with Fasting Test after Treatment Withdrawal

Estimation of Mody Frequency and Prevalent Subtypes in Pediatric Patients by Targeted NGS

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