Searchable abstracts of presentations at key conferences in endocrinology

ea0039oc7.6 | Oral Communications 7 | BSPED2015

The evolving phenotype of transient neonatal diabetes 1: findings from the international register

Lokulo-Sodipe Kemi , James Rowena S , Zalkapli N N , Docherty Louise E , Davies Justin H , Mackay Deborah J G , Temple I Karen

Introduction: Transient neonatal diabetes 1 (TNDM1) has an estimated incidence of 1 in 400 000 and is characterised by intra-uterine growth retardation and diabetes presenting soon after birth. Spontaneous remission of diabetes usually occurs within the first year of life. TNDM1 is caused by overexpression of imprinted genes at chromosome 6q24. Three causes have been described: paternal uniparental disomy for chromosome 6; paternally inherited duplication of 6q24; and maternal...