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...

ea0058oc5.1 | Oral Communications 5 | BSPED2018

Growth outcomes in adolescents and adults with Silver-Russell syndrome and the effects of childhood growth hormone treatment

Lokulo-Sodipe Oluwakemi , Canton Ana P M , Giabicani Eloise , Ferrand Nawfel , Child Jenny , Wakeling Emma L , Binder Gerhard , Netchine Irene , Mackay Deborah J G , Inskip Hazel M , Byrne Christopher D , Davies Justin H , Temple I Karen

Childhood short stature in Silver-Russell syndrome (SRS) is frequently treated with growth hormone (GH), however final height and long-term body mass index (BMI) data are limited.Objective: To assess height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and Ger...