Endocrine Abstracts

Background: HbA1c remains the most powerful outcome measure for children and young people with diabetes. It is collected at every clinic visit and is used for individualised discussions around diabetes control and for national benchmarking. However, despite DCCT and IFCC standardisation, there is still no overall consensus as to the most appropriate methodology, particularly when assessing patients with haemoglobinopathies that may affect HbA1c measurement.<p class="abstex...

Introduction: The impact of ethnicity and socioeconomic status (SES) on glycaemic control in children with type 1 diabetes (T1D) is poorly understood in England and Wales.Methods: We studied 18 478 children and young people with T1D aged <19 years attending diabetes clinics in England and Wales and included in the 2012–2013 National Paediatric Diabetes Audit (NPDA). Self-identified ethnicity was categorized as white, Asian, black, mixed, other a...

Abstract: Transarterial embolisation (TAE) is an effective treatment for liver metastases from neuroendocrine tumour (NET). It reduces arterial blood flow to the tumour resulting in ischemia and necrosis. In this single centre retrospective study the effectiveness and safety of TAE was evaluated.Patients and methods: 30 patients with histological confirmed gastro-entero-pancreatic NET with liver metastases were investigated. Tumour response, decline in s...

Congenital adrenal hyperplasia (CAH) has an estimated prevalence of one in 10 000–20 000 live births. Patients are described as salt wasting (SW), simple virilising (SV), or non-classical (NC). The CAH genotype is usually compound heterozygous.Aims: To characterise the cohort of CAH patients presenting to a regional centre 1994–2014, to quantify the allelic frequency of CYP21A2 mutations and to examine genotype–phenotype associations.<...

Introduction: Central congenital hypothyroidism (CCH), undetected by TSH-based NewbornScreening, occurs from TSH synthesis or secretion defects. An extremely rare (<1:100,000) cause concerns the recently described ImmunoGlobulinSuperFamily member 1 (IGSF1) gene, critical in TSH biosynthesis. These 2 infants highlight intriguing clinical features.Case-1: Term male (BW 3.95 kg) with poor feeding and persistent jaundice (max bilirubin 362 umol/l) despit...

Objectives: To identify patient and clinical factors associated with emergency hospital admission with diabetic ketoacidosis (DKA) in children and young people with type 1 diabetes attending specialist NHS outpatient clinics in England and Wales.Design: Cross-sectional observational analysis of linked data from the National Paediatric Diabetes Audits (NPDAs) in England and Wales, and Hospital Episode Statistics and Patient Episode Database for Wales. We ...

Objectives: Pregnancy and early infancy are periods when increased demand for thyroid hormone can result in subclinical hypothyroidism (SH). SH is frequently a prodrome to autoimmunity, but may be a compensation mechanism for an underlying genetic defect. The W546X mutation of the thyrotropin receptor (TSHR) is present at a frequency of 1 in 180 in a Caucasian population. We aimed to investigate whether W546X was the cause of SH presenting in pregnancy and early infancy.<p...

Background: The safety of GH replacement in patients with craniopharyngioma has not been clearly elucidated.Aim: To assess whether GH replacement increases the risk of craniopharyngioma recurrence.Patients and Methods: The records of the patients with craniopharyngioma followed-up at the Departments of Endocrinology and Paediatrics between 1/1964-6/2004 were reviewed. The recurrence risks of GH-treated and non-GH-treated patients w...

Heparin is being frequently used in most hospitals within the U.K. The use of low molecular weight heparin is increasing also amongst different specialities. The risk of bleeding and thrombocytopaenia with heparin treatment is well recognised. However other side effects of heparin therapy like hyperkalaemia, which can be life threatening due to the high risk of arrhythmias are less commonly perceived.We describe a 59 year old female patient with type 2 d...

Random serum cortisol levels should be carefully interpreted in the clinical setting of hypoadrenalism, when clinicians have a high index of suspicion. We describe an 81year old lady who was admitted with symptoms and signs of hypoadrenalism, though her random cortisol levels were 800nmol/l. She was admitted following a collapse at home. She also gave a history of weight loss of about 5 kgs over the previous 6 months, and complained of breathlessness. On examination she was sl...