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...

hrp0089p2-p071 | Diabetes & Insulin P2 | ESPE2018

Clinical Details, Molecular Genetic Analysisand Clinical Pheonotype Correlation of 14 Patients with Neonatal Diabetes from The South India – A Single Centre Experience

Nagesh V Sri , Hattersley Andrew , Ellard Sian , Sethi Bipin , Franco Elisa De , Flanagan Sarah , Houghton Jayne , Venkateshwarlu M , Parekh Harsh , Dukle Vaibhav , Kelwade Jayant , Naseem Altaf , Kanithi Ravishankar , Nalli Ravi Kumar

Background: Neonatal diabetes mellitus (NDM) is a relatively rare form of monogenic diabetes and usually presents in the first 6–9 months of life. In this study, our objective was to report the clinical details, perform a detailed genetic analysis and acquire a clinical–phenotype correlation of our cohort.Materials and methods: NDM patients referred to SN Endocrine centre between period of Nov 2014 to April 2017 and patients under follow-up wit...