Endocrine Abstracts

Introduction: Hypercalcaemia secondary to malignancy is rare in childhood. Bisphosphonates have previously been shown to be effective in managing such cases in adults, however caution must be exercised in patients with renal failure or respiratory compromise. Denosumab, a RANKL monoclonal antibody is a very potent inhibitor of osteoclasts and can induce hypocalcaemia. It is not excreted by the kidney. Limited trials in adults have shown denosumab to have greater efficacy compa...

Background: We present a case of a 10 year old female with T1DM, referred to our tertiary centre for complex diabetes care due to her other severe chronic dermatological condition. We discuss the difficulties with optimizing diabetes control in such a chronic debilitating condition which has a pervasive effect on T1DM treatment.Case: To our knowledge this is only the second reported case of a child with T1DM and Epidermolysis Bullosa. Severe Recessive Dy...

Introduction: Graves’ disease is the commonest cause of hyperthyroidism accounting for 80% of all cases. The first line treatment for Graves’ disease in the UK is medical therapy, most frequently using a ‘dose-titration’ regimen. Currently, there is a lack of guidance to aid clinicians in carrying out optimal dose-titration of carbimazole, resulting in a risk of under- or over-treatment. Thus, we aimed to develop a carbimazole dosing-algorithm for the medic...

Introduction: Thyroxine plays a key role in the development of the structures of the ear, the auditory pathway and in myelination of the central nervous system. The association between congenital hypothyroidism (CH) and neurodevelopmental outcome is clearly established. However, there is a lack of data about the prevalence and severity of hearing loss in the CH population.Methods: Between 1/1/12 and 31/12/13, 187 children were diagnosed with CH and treat...

Nephropathy remains a major diabetes related complication despite improvements in metabolic control. Current interventions are based on the appearance of albuminuria. Whether earlier detection and treatment might be beneficial is unclear. The reabsorption of low molecular weight (<70 kDa) plasma proteins in the renal proximal tubule is mediated by an endocytic receptor, megalin, and its coreceptor, cubulin.Using label free quantitative proteomics we ...

Introduction: Cushing’s syndrome is a rare and life-threatening paediatric disease, the diagnosis of which can be challenging given its heterogeneous clinical presentation and the investigation results which are frequently inconclusive.Aim: To assess the reliability of the tests used for screening and for establishing the aetiology of Cushing’s syndrome.Design: We conducted a retrospective study analyzing cases of Cushing...

Background: Poorly controlled diabetes is associated with dyslipidaemia including high cholesterol and LDL concentrations. This increases the long term risk of atherosclerosis and cardiovascular complications. In children and young people with type 1 diabetes, management with lipid lowering agents is controversial and to date long term evidence of benefit is limited. We report a case of severe dyslipidaemia and the impact of improvement in glycaemic control.<p class="abste...

Thyroid ectopia is a frequent and severe form of congenital hypothyroidism and results from failure of the process of embryonic development and migration of the thyroid gland from the pharyngeal pouch to the anterior neck with the isthmus sited at the level of the cricoid cartilage. With improved technetium scanning techniques, cases of dual foci thyroid tissue are increasingly recognised. The incidence and clinical characteristics of this group of patients has not been establ...

Familial glucocorticoid deficiency (FGD, OMIM#202200) is a rare autosomal recessive disorder characterised by adrenal resistance to the action of ACTH, with isolated glucocorticoid deficiency. Recently, mutations in NNT, encoding the mitochondrial anti-oxidant nicotinamide nucleotide transhydrogenase have been reported to cause FGD.Our index case, from a highly consanguineous Kashmiri family, was diagnosed with adrenal insufficiency during a sep...

Background: Glucagon (GST) is used as an alternative to insulin (ITT) to diagnose GH deficiency (GHD) and adrenal insufficiency (ACTHd). However the peak cortisol response to diagnose adrenal insufficiency varies (550, and 500 nmol/l), has been extrapolated from adults undergoing intraoperative stress and not fully validated.Aim: To determine the peak cortisol ‘cut off’ level which most accurately predicts clinically significant adrenal insuffi...