Endocrine Abstracts

Objective: Incidence of paediatric type 2 diabetes appears to be increasing. We describe our cohort of paediatric type 2 diabetes at Barts Health NHS Trust in East London (UK) over the period 2008-2018 to gain insight in incidence, complications and outcomes.Methods: Retrospective cohort study. Data collection from Twinkle (electronic database for diabetes) and paper notes.Results: Fourty patients (25 female) were diagnosed with T2...

Introduction: Prevalence of vitamin D deficiency is well recognised and public awareness is being raised to encourage intake of vitamin D supplements. Optimal serum concentration of 25OHD for bone and general health has not been established. Desirable serum concentration of 25OHD had been proposed as >75 nmol/l and levels above 500 nmol/l are deemed toxic. Guidance is available on tolerable upper limit of vitamin D intake by US Institute of Medicine....

Introduction: Heterozygous inactivating mutations in the maternal allele of the GNAS gene typically result in pseudohypoparathyroidism (PHP). GNAS variants were recently described in 1% of patients, not known to have PHP, in the UK Genetics of Obesity cohort, resulting in reduced MC4R signalling and variable effects on PTH-R and GHRH-R signalling.Methods: NGS (Cambridge Obesity Gene Panel) and in vitro functiona...

We present 3 children in a single centre with Myhre syndrome (MS) due to a heterozygous SMAD4 Ile500val mutation. Consistent features were brachydactyly, joint restriction, muscular hypertrophy, genital abnormalities, conductive hearing loss and developmental delay. SGA and height were variable. Diagnosis was made by next generation sequencing in patients 1 and 3 and on the skeletal survey in patient 2. Retrospectively, features of Myhre syndrome were present on the s...

Background: A substantially reduced fluid replacement regimen was introduced in the New’ BSPED (2015) compared to ‘Old’ BSPED (2009) guideline for DKA management in children. However, effects of varying fluid replacement regimens are limited and we explored this by comparing outcomes of the two guidelines on the resolution of DKA.Methods: In a retrospective audit of consecutively admitted patients (age <18 years) to t...

Background: Rapid implementation of tele-clinics was necessary during the COVID-19 pandemic. Patients missed routine point-of-care HbA1c testing, vital for evaluating long-term glycemic control. We evaluated the feasibility of remote HbA1c monitoring via self-collection of capillary blood samples at home, and examined clinical characteristics associated with patient engagement.Methods: Bio-Rad Haemoglobin Capillary Collection System (HCCS) was used, with...

Introduction: PTEN-harmatoma-tumor syndrome is an umbrella term that describes a group of genetic disorders linked to germline mutations of PTEN (Phosphatase and tensin homolog), a tumor suppressor gene that inhibits the PI3/Akt signalling pathway thereby inhibiting proliferation, cell survival and angiogenesis. PTEN-harmatoma-tumor syndrome encompasses Cowden‘s Syndrome, Bannayan–Riley–Ruvalcaba syndrome, and autism spectrum disorder (ASD) associated with macro...

Background: Our Paediatric Diabetes service has a challenging rise in proportion of patients with Type 2 Diabetes Mellitus (T2DM); 8.5% of our current cohort; compared to 3.5% regionally and 2.5% nationally (NPDA 2017–2018).Objectives: Establish a T2DM New Diagnosis Pathway and T2DM clinics aiming to achieve HbA1c < 48 mmol/mol for all new patients at 3 months and a year, with 10% weight loss.Methods: Patients diagnosed wi...

Background: Central hypothyroidism (CeHT) is uncommon in children. CeHT is often part of multiple pituitary hormone deficiency but can occur in isolation, and may occasionally be due to mutations in TSHB, TRHR or IGSF1, involved in TRH signalling. We present an adolescent with a novel truncating mutation of IGSF1.Case presentation: A 15-year-old male was referred for pubertal delay, obesity and abnormal TFTs (FT4 (6.5 pmol/l [8...

A 3-year-old boy born to non-consanguineous parents. He was diagnosed to have autism at 2 years of age. He had a history of pica. He was admitted with severe carpopedal spasms of hands and feet. Investigations revealed severe hypomagnesaemia, hypocalcaemia, hypokalaemia, hyponatremia, and moderately low vitamin D levels. Parathyroid hormone concentration was low. Urine analysis revealed loss of sodium, calcium, magnesium and sodium. Renal functions and renal ultrasound were no...