Endocrine Abstracts

Introduction: Recent experience of C-peptide testing in adults with longstanding diabetes has revealed misdiagnosis of monogenic diabetes as either type 1 or type 2 with important implications for quality of life and healthcare costs. Correct diagnosis earlier in life may be possible with the use of routine antibody testing at diagnosis and c-peptide measurement 3 years after initial diagnosis. Negative or low titres for all 3 antibodies suggest non-type 1 diabetes. Persistenc...

Introduction: Diabetic Ketoacidosis (DKA) is a known risk factor for ischaemic and haemorrhagic stroke in children and young people. Cerebral oedema may predispose to ischaemic or haemorrhagic brain injury, however not all cases of stroke are associated with cerebral oedema. This case illustrates severe complications of DKA including ischaemic stroke and cardiac arrest, and raises questions about fluid management in severe DKA.Case report: We describe th...

Introduction/aims: Adrenarche, the gradual increase in adrenal androgen secretion resulting in clinical features of pubic hair, axillary hair, body odour and acne, is independent from gonadotrophin-dependent central puberty. It is important that children presenting with these features are not unnecessarily investigated, whilst ensuring significant pathology is not overlooked.There is variation in practice in management of adrenarche. We identified curren...

Introduction: The management of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21-OH) deficiency is challenging and clinical practice is known to vary. Clinical guidelines were published in the Consensus Statement in 2002 encompassing evidence for best practice.Aims: To compare the management of paediatric patients with severe 21-OH deficiency in South East and West of Scotland (SE and WoS) with consensus guidelines. To determine the nature ...

Introduction: We evaluated the Lothian Adolescent Diabetes Service (LADS) to assess the service at the introduction of a clinical psychologist, to help guide service redevelopment and evaluate areas where psychological support would be most beneficial.Methods: Over 13 weeks, all adolescents with type 1 diabetes mellitus attending LADS clinics were invited to complete a questionnaire about their clinic experience and support with diabetes management. Cons...

Introduction: The initial insulin doses for children with newly diagnosed type 1 diabetes mellitus (T1DM) are dependent on the degree of ketosis at presentation, reflecting the presence of insulin resistance. The concept of metabolic memory has heightened the importance of improving glycaemic control following diagnosis.Aim: To determine whether current local prescribing guidelines accurately predict insulin requirement at initiation of treatment followi...

Introduction: Women with Turner syndrome (TS) have a 13-year reduction in life expectancy compared to the general population. Cardiovascular disease (CVD), whether congenital or acquired, is the cause of death in around half of these women. Therefore, early identification of congenital heart defects, aortic abnormalities and risk factors for CVD is extremely important, and may have a significant impact on long-term outcomes of CVD in TS.Aim and methods: ...

Introduction: Effects on fertility have been seen as important late effects of treatment for childhood cancer.Aim: To evaluate the impact of chemotherapy and radiotherapy treatment for childhood medulloblastoma on gonadal function.Methods: Retrospective cohort study of all children treated for medulloblastoma (diagnosed from 2–18 years) in a single institution in the UK between 1983–2011 and a minimum relapse-free surviva...

Objectives: Diazoxide is first line treatment for hypoglycaemia due to hyperinsulinaemic hypoglycaemia (HH). Although sporadic cases of pulmonary hypertension (PH) have been reported, no HH cohort has been systematically characterised to understand severity and risk factors for diazoxide-induced PH.Methods: To investigate the onset, progress and associated factors in PH, patients with HH who developed diazoxide-induced PH in 4 regional centres were retro...

Aim: To quantify difference in service provision for children and young people (CYP) living with CAH across the UK.Methods: A national service evaluation using online questionnaires circulated to patients and clinicians from secondary and tertiary UK centres managing CYP with CAH, and via the ‘Living with CAH’ support group mailing list.Results: Total of 195 responses rel...