hrp0086p2-p584 | Perinatal Endocrinology P2 | ESPE2016

A Unique IL2RA Mutation Presenting as Neonatal Diabetes, Congenital Hypothyroidism and Sepsis

Sri Nagesh V. , Hattersley Andrew , Ellard Sian , De Franco Elisa , Flanagan Sarah , Naseem Altaf , Ahmed A. , Ahmed Tanveer , Venkateswarlu K.

Background: 16 year old female neonate presented with neonatal diabetes, congenital hypothyroidism and sepsis.Objective and hypotheses: To evaluate the neonate for a common cause of neonatal diabetes, congenital hypothyroidism and sepsis and to explore for the best modality of management, including a possible role for sulphonylureas.Method: The neonate born of 3rd degree consanguinity was admitted and started on insulin infusion an...