Endocrine Abstracts

Background: Mutations in BRAF are a rare cause of cardiofaciocutaneous syndrome (CFC). Recently, BRAF mutations have been reported in papillary craniopharyngiomas, but have not been described in patients with other hypothalamo-pituitary abnormalities. We describe three patients with CFC and septo-optic dysplasia (SOD) associated with heterozygous BRAF mutations.Cases: Patients presented in childhood with clinical features of ge...

Introduction: Copeptin is the C-terminal fragment of proAVP and secreted in equimolar amounts with AVP. While AVP is unstable in vitro and has proved difficult to measure in clinical practice, copeptin is relatively stable and can be measured using an automated immunoassay. Therefore copeptin measurement offers potential as a more practical alternative to the direct measurement of AVP in the investigation of polyuria/polydipsia.Methods: AVP, cop...

An 84-year-old lady with hypertension, bladder cancer, and chronic kidney disease, presented with a 3-day history of diplopia on looking to the right, abnormal eye movements, right-sided peri-orbital headache, and diarrhoea. Clinical examination revealed right-sided sixth cranial nerve palsy with normal pupillary light reaction, visual acuity, and visual fields. There were no other neurological deficits. The patient did not have features of hypercortisolism, GH excess, or adre...

A 21 year old Caucasian female with no known personal or family history of thyroid disease presented with several years history of anxiety and was found to have abnormal thyroid function tests. Results showed TSH: 1.8 mu/l (0.3–5.5), T4: 73 pmol/l (10–22), T3 12.3 pmol/l (3.1–6.8). Past medical history included chronic anxiety with no regular medications or nutritional supplements. There was no history of recent iodinated contrast administr...

Introduction: Our aim was to evaluate the effectiveness of a regional prepregnancy care (PPC) programme for women with both types 1 and 2 diabetes.Methods: This prospective cohort study included women with pregestational diabetes attending five antenatal centres in the West of Ireland between January 2006 and December 2013. Comparisons were made between those that did and did not attend the PPC programme. Primary outcomes included composite adverse neona...

Pregnancy for women with type 1 or type 2 diabetes is a high-risk time. The Atlantic diabetes in pregnancy (DIP) programme aims to provide coordinated, optimal evidence-based clinical care for women with diabetes over five hospital centres in the West of Ireland. After previously auditing pregnancy outcomes in 2008 and again in 2011 we now look at our 10-year outcomes. Changes in clinical care delivery that have occurred over that time include; the provision of dedicated combi...

Introduction: Hypocalcaemia is a recognised cause of neonatal seizures most often related to vitamin D deficiency in the mothers of exclusively breast fed infants. There have also been case reports of an underlying diagnosis of hyperparathyroidism in a reportedly well mother becoming apparent after the infant presents with hypocalcaemic seizures. Maternal hypercalcaemia suppresses parathyroid activity in the foetus, which causes transient neonatal hypocalcaemia.<p class="a...

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: The prevalence of coeliac disease (CD) in type 1 diabetes (T1DM) is 4.4–11.1 vs 0.5% in the general population. The compliance to gluten free diet (GFD) in symptomatic patients vs those diagnosed on screening is significantly higher as expected. The impact of untreated CD on patients with T1DM ranges from malabsorption and frequent unexplained hypoglycaemia to no symptoms.Aims: i) To describe the demographics of our children with CD.</...

Introduction: 45XO/46XY karyotype has varied phenotypic spectrum ranging from short stature, ambiguous genitalia (60%), clinical signs of Turner’s syndrome in both males and females and normal male phenotype. We report six phenotypically male cases with a varied clinical presentation.Case 1 and 2: Short stature: Two pre-pubertal, phenotypical males, were referred with concerns regarding short stature (height <0.4th centile, height velocity &#150...