Endocrine Abstracts

Background: Self-management of Type 1 diabetes (T1DM) is difficult and complex, particularly so during the transition period. Deterioration in glycaemic control is common, in part due to psychosocial and environmental changes (going to college or university), poor adherence to insulin regimens, risk-taking behaviours and family stressors. Transition to adult diabetes services can be a traumatic period for young people with diabetes, who commonly fall between services and are l...

Case: A 10-year-old girl with panhypopituitarism and cerebral palsy secondary to Group B streptococcal meningitis as a neonate had full hormonal replacement therapy (hydrocortisone, thyroxine, DDAVP) since infancy. GH was started at 3 years of age. Sodium levels were always stable in the high normal range. She became epileptic aged seven and was started on sodium valproate. Recurrent chest infections occurred from age eight and she became colonised with Pseudomonas an...

Case: A 14 year-old boy was found semiconscious by his mother following difficulty in sleeping overnight as he felt intermittently hot and cold. He had intentionally tried to lose weight (about 25 kg over 6 weeks). Presenting weight was 81 kg. Following prolonged resuscitation at home, GCS was 12 on arrival to hospital, 8 when intensive care team arrived. pH was <6.9 throughout. First venous glucose was 80 mmol/l (unrecordable on gas and glucometer), first plasma Sodium 11...

Background: Poor diabetes control is associated with increased risks in all types of hospital admission. Admission into hospital among children and young people with diabetes places a large burden on the NHS resources. For example the cost of a DKA stay per patient is £20641.Introduction: We analysed the paediatric admissions to hospital of those in T1DM. Our objective was to compare our type of hospital admissions to the national paediat...

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...

Introduction: Pathogenic MC4R variants result in hyperphagia and early onset obesity but puberty is not usually affected. We describe an MC4R variant in a patient with Kallmann syndrome and obesity.Case: A 16 year old male with repaired Tetralogy of Fallot, anosmia, autism and anxiety, was referred with obesity and delayed puberty. Height was -1.31 SDS, BMI 30.7 kg/m2. He had a high arched palate, normal skin, normal hai...

Background: Children with HbA1cs in target within the first year of diagnosis of diabetes show tracking of future results1 and experience fewer long term complications.2 This phenomenon is called ‘metabolic memory.3 HbA1C depends on a combination of patient factors and quality of care offered by the team (intensive insulin, communication, and support). We hypothesized that well managed, supported, patients should achieve target HbA1cs at l...