Endocrine Abstracts

A 49 year old lady presented to the hospital unconscious with severe hypoglycaemia. She had type 1 diabetes for 24 years and coeliac disease. She was hypo-unaware and had multiple admissions with DKA and hypoglycaemia over the years. She did not engage in the self-management of diabetes, therefore, insulin was being injected by the carers in the community and by nurses in the hospital. Her erratic and unpredictable glycaemic control was attributed to non-compliance. She admitt...

Nicotinamide adenine dinucleotide (NAD+) levels increase during metabolic stress, which acts as a consumed substrate by, amongst other proteins, the sirtuins, which adapt transcriptional programmes to increase energy availability and regulate insulin sensitivity. Thus, maintaining appropriate skeletal muscle NAD+ availability is critical for regulating systemic energy homeostasis. In order to gain better insight into ageing muscle NAD+ dynamics we used ta...

Introduction: Thyrotoxicosis, the commonest cause of which is Graves’ disease, is rare in childhood and adolescence.We report a consecutive series of patients referred to a single tertiary paediatric endocrine centre over 5 years.Methods: Retrospective case note and database review of patients referred 01/2013–02/2018.Results: 27 patients (21F) with Graves’ disease in 21, and Hashitoxicosis in 6. During the same peri...

Background and ObjectiveData on the epidemiology, effects of dopamine agonists and long term outcome of prolactinoma in children and adolescents have been gradually accumulating but are still scarce. We conducted a systematic review and meta-analysis of published literature (1994 – 2019) to study the epidemiology of prolactinoma in patients < 20 years old, and determine the management strategies adopted.Methods: Relevant ...

Thyroid malignancies are the most common type of endocrine tumors. Of the various histological sub-types, anaplastic thyroid carcinoma (ATC) represents 2% of all cases but is responsible for most of the thyroid cancer related death.Indeed, ATC is regarded as one of the more aggressive and hard to treat forms of human cancer. Moreover, to date, there is a paucity of relevant models to study how the signature genetic abnormalities detected in ATC contribut...

A 42-year-old woman presented to her GP with episodes of feeling ‘shaky’ exacerbated by physical exercise and prolonged fast. She was previously diagnosed with an insulinoma in 2006 (serum glucose 1.6 mmol/l, serum insulin 3.1 mIU/l and serum C-peptide <165 pmol/l). CT abdomen /transabdominal ultrasound revealed a 1 cm insulinoma in the uncinate process of the pancreas and the patient later underwent pancreatic enucleation in 2006. Post pancreatic enucleation, 72...

Objective: To determine the impact on quality of life and metabolic control of insulin pump therapy in a cohort of young people in south London.Methods: Seventeen children and young people with type 1 diabetes aged 5–17 undergoing assessment for pump therapy were routinely seen by a clinical psychologist as part of their assessment. The majority were aged 13–17. Measures quantifying quality of life (PEDS-QL generic and diabetes specific modules...

Background: 5α-Reductase type 2 deficiency (5ARD) is caused by mutations in the SRD5A2 gene. Inadequate masculinisation in XY individuals results from failure to convert testosterone (T) to dihydrotestosterone (DHT), a potent androgen. A decreased serum T:DHT ratio is frequently taken to identify 5ARD, but requires hCG stimulation for prepubertal patients; findings are not always supported by genotyping. Urine steroid profiling (USP) by GC-MS is established as showing sig...

Mutations in GHR, STAT5B and IGF1 lead to GH-insensitivity but often the cause of reduced GH-sensitivity remains unknown. We describe the identification of a mutation in the MVK gene encoding mevalonate kinase (MK) in a pedigree investigated for STAT5B-deficiency.A 15-year-old male born to consanguineous parents was referred for short stature (height 125.8 cm; −5.6 SDS) and arthritis. He presented, aged 2 years, with fev...

Aim and methods: Cortisol substitution in adrenal insufficiency (AI) is a matter of debate. We performed a pharmacokinetic analysis of plasma and salivary cortisol following oral hydrocortisone intake in patients with AI, and a pharmacokinetic modelling simulation. Fifty patients with primary (n=20) or secondary (n=30) AI were recruited. After 24-h plasma and salivary cortisol measurements under usual hydrocortisone treatment, a pharmacokinetic modelling with dif...