Endocrine Abstracts

Type 2 diabetes (T2DM) has emerged in youth, disproportionately affecting ethnic minorities. Maturity Onset Diabetes of the Young (MODY) has been reported in exclusively white UK children. We report the first UK Asian children with MODY, highlighting differences from T2DM.Child 1 is a slim (BMI SDS−0.14) female of Indian descent without acanthosis nigricans (AN). She presented aged 12 years with polydipsia and polyuria (HbA1c 8.6%). Hypoglycaemia w...

Introduction: Chiari-1 malformation (C-1M) is defined as the crowding of the craniocervical junction as a result of congenital cerebellar tonsil descent past the foramen magnum. Reported association between endocrine disorders and C-1M is mostly anecdotal.Aims: To evaluate the prevalence of endocrine disorders in C-1M against the prevalence of C-1M in those with isolated Growth Hormone Deficiency (GHD) with the aim of determining if there is a significan...

Purpose: IGF-1R antagonism reduces TED-related inflammation and proptosis. VRDN-001, a subnanomolar affinity full antagonist antibody to IGF-1R, is being evaluated in a phase 1/2 RCT (NCT05176639) at 3-20 mg/kg. We present results from the first cohort (10 mg/kg) of TED patients.Methods: Adults with active moderate-to-severe TED with clinical activity score (CAS) ≥4 were randomized to 2 infusions 3 weeks apart of either 10 mg/kg VRDN-001 or placebo...

Objectives: To establish the frequency of islet cell autoimmunity in children with a clinical diagnosis of type 2 diabetes (T2DM) and describe associated clinical and laboratory findings.Methods: We recruited children with: paediatrician diagnosis of T2DM; BMI above 85th centile for age and sex; children with other confirmed diagnoses such as monogenic and type 1 diabetes (T1DM) were excluded. Clinical data was collected into a national database. Blood w...

Objectives: Type 2 diabetes (T2DM) has increased in UK children since the first reports in 2000; however it is poorly characterised and management practice varies across the UK. We aimed to describe the characteristics of the first 125 children recruited to the UK national study.Methods: We recruited children with: paediatrician diagnosis of T2DM; body mass index (BMI) above 85th centile for age and sex; other diagnoses such as monogenic diabetes exclude...

Background: Acid-labile subunit (ALS) deficiency inhibits ternary complex formation leading to primary IGF1 deficiency and short stature. Potential metabolic consequences such as diabetes and low bone mass are not well studied.Objective: This study measured insulin sensitivity, lipid profile, bone density and structure in members of 4 affected families and explore possible gene-dose effects.Methods: Four patients (7–21 years) ...

Objectives: We aimed to develop a registry for the rare genetic diseases Wolfram (WS), Alstrom (AS), Bardet Biedl (BBS) and other diabetes syndromes, containing clinical, genetic diagnostic and outcome data. The purpose is to establish the natural history of these diseases; to assess clinical management; to characterize cohorts for future clinical trials; and to establish genotype phenotype relations. This abstract describes the first 50 patients recruited.<p class="abstex...

Type 2 diabetes (T2DM) has increased in UK children since the first reports in 2000; however it is poorly characterised and management practice varies across the UK. We aimed to describe the characteristics of the first 103 children recruited to a national study. We wrote to paediatricians asking for children with: diagnosis of T2DM; body mass index (BMI) above 85th centile for age and sex; and other diagnoses such as monogenic diabetes excluded. Clinical data was collected in...

Obesity is a recognised complication of craniopharyngioma (CP), but its aetiology is not understood. Leptin, which signals energy reserve, and ghrelin, which regulates appetite, are implicated in the development of obesity.Our aim was to assess leptin and ghrelin levels in CP patients and to compare these to normal and BMI-matched controls.CP patients were identified from the local database. All CP patients were on hormone replacem...

The relationship between serum TSH and thyroid autoantibodies is frequently used to classify thyroid disease both overt and subclinical. Further debate has centred on the validity of the cutoff point for serum TSH elevation (generally between 4-5 mU/l) which it has been suggested is inappropriately high. The significance of the presence of thyroid autoantibodies (hereafter termed antibody positivity) in extrathyroidal disease is unclear but an increased prevalence has been rep...