Endocrine Abstracts

The Brecon Group (Welsh Paediatric Diabetes Interest Group) was established in 1995 given the need to advise Welsh Government regarding commissioning of paediatric diabetes services. A diagnostic register was created using a minimal data-set to identify the numbers of young people aged <15 years with diabetes in Wales and to establish national audit. This allowed us to show the benefits of appointment of paediatric diabetes specialist nurses but also the lack of impact of ...

Objectives: There is uncertainty about the best approach to management of type 1 diabetes (T1D) in clinically well children at diagnosis. This study, investigated the impact of home and hospital management on biopsychosocial and economic outcomes.Methods: Multi-centred randomised controlled trial. 203 newly diagnosed children aged 0–17 years from eight UK centres were randomised for treatment initiation at home (n=101) or in hospital (n...

Background: Timely diagnosis and management of neonatal hypoglycaemia is important due to associated short and long-term sequelae including neurodevelopmental delay. Hyperinsulinism should be distinguished from other causes of hypoglycaemia as management and acceptable glycaemic parameters may be different.Aims: To characterize admissions with hypoglycaemia and assess the use of hypoglycaemia screen to detect hyperinsulinism.Method...

Introduction: Mutations in GNAS, affecting the alpha subunit of heterotrimeric G proteins, are implicated in several endocrinopathies. We report a patient with features of both receptor activation and inactivation in association with a novel de novo heterozygous somatic mutation.Case report: Asymptomatic hyponatraemia (Na 117-123) was identified in a male neonate, and treated with sodium supplementation and fludrocortisone. Biochemical data were...

Background: Children and young people with type-1 diabetes (T1D) have excess all-cause hospital admissions, particularly younger children with lower socioeconomic status. Education on managing alcohol is provided to teenagers with T1D in paediatric clinics, but its effectiveness is unknown. We compared the risk of alcohol-related hospital admissions (ARHA) in young people with childhood-onset T1D with the general population for the same birth years.Metho...

Corepressors and coactivators of thyroid hormone receptor-mediated function facilitate repression and transactivation of positively-regulated target genes respectively, but their role in negative regulation is not understood. A 13 yr old boy, born at 31 weeks gestation, was jittery at birth, with neonatal respiratory distress. Childhood features included poor weight gain, heat intolerance, tachycardia and hyperactivity. Ongoing problems are low frequency hearing loss, poor sig...

Objectives: Pregnancy and early infancy are periods when increased demand for thyroid hormone can result in subclinical hypothyroidism (SH). SH is frequently a prodrome to autoimmunity, but may be a compensation mechanism for an underlying genetic defect. The W546X mutation of the thyrotropin receptor (TSHR) is present at a frequency of 1 in 180 in a Caucasian population. We aimed to investigate whether W546X was the cause of SH presenting in pregnancy and early infancy.<p...

Background: Delivery of clinical trials to time and target is critical for studies to be financially viable and relevant. Feasibility studies are informative. However, protocol acceptability and recruitment rates can only be accurately ascertained once a study is open.The SCIPI study (SubCutaneous Insulin: Pumps or Injections?), randomises patients to treatment with multiple daily injections (MDI) or pumps at diagnosis of type I diabetes (TID). A consent...

Introduction: The effects of maternal suboptimal gestational thyroid function (SGTF) on age 3 offspring’s cognitive function were investigated in the Controlled Antenatal Thyroid Screening (CATS) randomised trial, comparing SGTF mothers who received (SGTF-T), or didn’t (SGTF-U), levothyroxine during pregnancy. The analysis was repeated at age 9 in the CATS-II follow-up study, also including children of mothers with normal gestational thyroid function (NGTF). Here we ...

Objectives: The Controlled Antenatal Thyroid Screening (CATS) study I was a randomised trial investigating the effects of levothyroxine treatment for suboptimal gestational thyroid function (SGTF), evaluating mothers with normal gestational thyroid function (NGTF), SGTF who received (SGTF-T), or didn’t (SGTF-U), levothyroxine during pregnancy. The present follow-up study (CATS II) reports the long-term effects of SGTF and levothyroxine treatment on anthropometric and card...