Endocrine Abstracts

Background: X-Linked Hypophosphataemia (XLH) is a rare, progressive, hereditary phosphate wasting disorder characterised by a pathological increase in fibroblast growth factor 23 concentration/activity. Despite XLH being increasingly recognised as a chronic progressive disease, there are few data documenting its natural history or impact of treatment. The International XLH Registry will collect data to characterise burden of disease, disease progression and long-term outcomes....

A 61-year-old lady presented to her general practitioner in July 2018 with weight loss, loose stools, hair loss, increased anxiety and dry eyes over several weeks. Blood tests revealed Graves’ thyrotoxicosis (TSH< 0.10 mU/l, (RR) 0.30-5.50 mU/l; Free T4 (fT4) 26.1 pmol/l, RR 11.5−22.7 pmol/l; Free T3 (fT3) 11.8 pmol/l, RR 0.0-7.0 pmol/l, thyroid receptor antibodies >40.0U/l, RR 0.0-1.8 U/l; thyroid peroxidase antibodies 173.0 iu/ml, RR 0.0-33.9 iu/ml). There...

Background: Wolfram Syndrome (WS) is a rare autosomal recessive disorder characterised by early-onset diabetes and optic atrophy as well as a variable spectrum of other endocrine and neurological conditions. It is caused by mutations in the WFS1 gene. Previous reports have documented a variable prevalence of hypogonadism (6.3% of the international EURO-WABB registry, 34% of a German cohort); however the only UK cohort reported was of 10 males, 7 of whom had primary gonadal atr...

Introduction: We present the case of a clinically functioning gonadotroph adenoma in a pre-menopausal woman with abdominal pain, bilateral multi-cystic ovaries and fibromatosis. To our knowledge, this is the first case of fibromatosis associated with a functioning gonadotroph adenoma.Case: A 36 year old female presented on three occasions with acute abdominal pain. She was previously well and had two normal pregnancies. On the first admission, she underw...

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...

The prevalence of bronchial carcinoid, both typical (TC) and atypical (AC), has increased significantly over the past 30 years, most likely as a consequence of better awareness and diagnostic tools e.g. carcinoid specific immunohistochemistry stains. The peak incidence of TC and AC are in the fourth and fifth decades of life respectively. Diagnosis at younger ages is much rarer although carcinoid represents one of the commonest pulmonary tumours in children, teenagers and youn...

Introduction: Continuous subcutaneous insulin infusion (CSII) can improve glycaemic control and quality of life in Type 1 Diabetes patients. It is uncommon for paediatric patients to discontinue CSII and return to multiple daily insulin injections (MDI) often due to concerns regarding worsening metabolic control. However a trial off CSII is a requirement before transition to the adult clinic. We review the outcomes of those who discontinued CSII in our centre (total 248 patien...

Introduction: Recently a serious incident due to failure in rechecking blood glucose (BG) after hypoglycaemia treatment was reported in an adult inpatient. We evaluated adherence to network guidance on hypoglycaemia management in inpatients and changes in practice following an intervention based on education and system changes.Methods: In an audit (audit-1), hypoglycaemia episodes (BG level <4 mmol/l) were identified in paediatric inpatients (age &#6...

Introduction: Children with Down’s Syndrome (DS) have altered immunity with higher rates of diabetes, thyroid autoimmunity, coeliac disease, respiratory tract infections and leukemia. Diabetes in children with DS appears to be accelerated with an earlier age of onset compared with the general population, with 22% diagnosed before the age of 2 years. Increased HLA class II DR3/4 susceptibility is seen in in children with DS and diabetes but the prevalence is reduced compar...

Thyrotoxicosis results in osteoporosis and thyroid hormone (T3) stimulates osteoclastic bone resorption by unknown mechanisms. We previously demonstrated that knockout mice lacking thyroid hormone receptor α (TRα0/0) are euthyroid but have high bone mass, whereas mice lacking TRβ (TRβ−/−) are thyrotoxic and have osteoporosis. Tartrate resistant acid phosphatase (TRAcP) staining revealed osteoclast numbers were re...