Endocrine Abstracts

Background: Children and young people (CYP) with Type 1 diabetes are offered 4 face to face appointments annually. During the COVID-19 pandemic these were delivered virtually.Objective: We conducted a survey to assess patient and carer satisfaction with the remote diabetes service. Methods: Research ethics approval was obtained. The survey was distributed to 280 CYP and their families; one response per family was collected. Data on...

Pathogenic variants in the SDHx genes are responsible for ~20% of familial Phaeochromocytoma/Paraganglioma (PPGL) tumours. Metastatic disease is lower in SDHD in comparison to SDHA, B and C mutations. Although the genotype-phenotype relationship is not well established it is considered that truncating SDHD pathogenic variants have a higher risk of causing disease in comparison to missense variants. We present two cases of metastatic paraganglioma in patients with heterozygous ...

Langerhans Cell Histiocytosis is an inflammatory myeloid neoplasia caused by mutations of several genes in the MAPKinase (MAPK) pathway which can present in single or multiple sites. Our patient presented to her GP with several months of amenorrhoea, thirst, tiredness and 3 stone weight loss. She was previously fit and well, working, and married with children. Blood tests revealed panhypopituitarism with low 9am cortisol 117 nmol/l (133-537). Oestrogen and gonadotrophins were ...

Anabolic androgenic steroids (AAS) are class C drugs with adverse effects on health. Prevalence is increasing, often with a lack of awareness of the dangers. We present the case of a 33 year-old male with dilated cardiomyopathy and polycythaemia apparently due to AAS abuse over three years. The patient presented with five weeks of increasing breathlessness and chest tightness. Examination revealed evidence of congestive cardiac failure. Chest radiograph showed evidence of pulm...

Background: Recent NPDA 15/16 data shows that nationally 17.9% of children and young people (CYP) with type 1 diabetes mellitus (T1DM) have a HbA1c level >80 mol/mol (7.9% at Nottingham Children’s Hospital (NCH)), putting them at increased risk of diabetic ketoacidosis and long-term sequelae. To support patients on the high HbA1c pathway (>80 mmol/mol) at NCH, a 5-day inpatient stay for stabilisation is offered. The process involves daily re-education from paediat...

Background: High oxidative stress is associated with increased morbidity. The effect of testosterone treatment (TT) on oxidative stress in ageing men with reduced bioavailable testosterone is undetermined.Aim: To determine the effect of TT compared to placebo on oxidative stress biomarkers.Methods: Double-blinded, placebo-controlled study in 38 men, aged 60–78 years, with bioavailable testosterone <7.3 nmol/l and waist cir...

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominantly inherited condition predisposing to primary hyperparathyroidism (PHPT), pituitary tumors, gastroenteropancreatic tract neuroendocrine tumors (NET), thymic tumours and skin lesions. Clinical features are rare in the paediatric population and guidance exists on the screening for complications of MEN1.Objective: To describe clinical features and treatment outcomes in a sin...

Background: Familial glucocorticoid deficiency (FGD) is characterised by isolated glucocorticoid deficiency, with preserved mineralocorticoid production. FGD type 2 is caused by mutations in MRAP encoding the melanocortin-2 receptor accessory protein. MRAP has a single transmembrane domain essential to its function in trafficking the MC2R/ACTH receptor. 15 mutations in MRAP have been described, five of which are within the canonical donor splice-site of intro...

Background: In type 1 diabetes (T1D), optimal glycaemic control requires intensive self-management to reduce the risk of complications. While routine downloading and review of blood glucose data is part of clinical practice of healthcare providers in an outpatient setting, patients and families are also educated, advised and encouraged to regularly download and review blood glucose data at home in order to make adjustments to insulin dosing for carbohydrate intake and insulin ...

Introduction: The hyperparathyroidism-jaw tumour syndrome is a rare autosomal, dominantly inherited disorder characterized by neoplastic or cystic lesions in parathyroid gland, jaws and the kidneys. With approximately 200 reported cases in literature this condition remains a challenge both diagnostically and in guiding further management.Case report: Seventeen year old scholar was seen by the maxillofacial department at Medway Hospital with 2 painless sw...