ESPE Abstracts

Case: A South Indian boy diagnosed with ataxic telangectaisa(AT) since aged 5 years (homozygous mutations for ATM gene at C1966A>C and 1968-X.delI), presented with type 2 diabetes (T2DM) aged 15.9 years. There was a 4-week history of polyuria and polydipsia without weight loss. Investigations showed fasting glucose 11.5 mmol/l, insulin 209 pmol/l, HbA1c 103 mmol/mol, negative glutamic acid decarboxylase and islet cell antibodies, and urinary C-peptide 2.84 nmol/mo...

Background: With the increase of overweight prevalence an increasing number of women develop gestational diabetes.Objective and hypotheses: We evaluated the growth of 6902 children of mothers with gestational diabetes. The secular trends in the prevalence of children with gestational diabetes in mothers was studied during 30 years.The material consisted of children born 1974 (n=1108), 1981 (n=977), 1991 (n</em...

Background: Long-term safety data are reported for paediatric patients treated with recombinant GH (GH; Norditropin®, Novo Nordisk A/S) at the treating physician’s discretion and enrolled in the observational NordiNet® International Outcome Study (IOS) (NCT00960128).Objective and hypotheses: To evaluate incidence rates (IR) (events/1 000 patient-years) of adverse drug reactions (ADR), serious adverse events (SAE), and...

Background: Turner syndrome (TS) is a common aneuploidy diagnosed by peripheral-blood-cell (PBC) karyotyping. Karyotyping is costly, time-staking and subject to manual errors. Quantitative real-time PCR (qPCR) is a cheap molecular diagnostic test which can detect several samples of TS within hours.Objective: To assess the performance of qPCR in detecting TS and variants.Methods: Ge...