Endocrine Abstracts

Introduction: Prader–Willi Syndrome (PWS) is a rare genetic disorder due to loss of paternally inherited genes on chromosome 15q11-13. It is characterised by neonatal hypotonia, childhood hyperphagia and obesity, hypogonadism, cognitive and behavioural disabilities, and development of scoliosis. PWS multidisciplinary (MDT) clinics were introduced from 2004 at Birmingham Children’s Hospital, a tertiary paediatric centre. This enabled centralised coordination of growth...

Introduction: Hydrocortisone is the main treatment for congenital adrenal hyperplasia (CAH) in children. The optimal biochemical monitoring and replacement regimen of these children continues to be debated. We explored variations in blood spot 17α-hydroxyprogesterone (17-OHP) levels.Methods: Single centre retrospective cross-sectional study of children with 21-hydroxylase deficiency aged <18 years. Patients treated with hydrocortisone who had dr...

Introduction: Prader–Willi Syndrome (PWS) is a rare genetic disorder due to loss of paternally inherited genes on chromosome 15q11-13. It is characterised by neonatal hypotonia, childhood obesity, hypogonadism, cognitive and behavioural disabilities, and development of scoliosis. We aimed to review the impact of growth hormone (GH) doses, scoliosis and IGF1 levels on height gain in children with PWS.Methods/design: Retrospective observational study ...

Case history: Patient 1, a 78 year old male, was diagnosed five years ago with a metastatic NET with octreotide avid disease including ileocolic/right common iliac nodal metastases and a solitary segment VII liver lesion. He elected for watchful waiting and was asymptomatic. Interval imaging showed gradual local disease progression. He was diagnosed with motor neurone disease resulting in unilateral arm weakness. He re-presented four years after diagnosis with progressive weak...

Phaeochromocytoma is a catecholamine producing tumour arising from the adrenomedullary chromaffin cells. It produces hormones such as epinephrine, norepinephrine, catecholamine and dopamine. (1) There have been some case reports describing an association between Brown adipose tissue (BAT) accumulation due to catecholamine excess caused by a phaeochromocytoma. We present a similar case in this abstract. A 77 year old lady was referred to the community geriatricians with symptom...

Introduction: The management of active thyroid eye disease (TED) remains controversial. High dose intravenous methylprednisolone (IVMP) is the current recommended first-line treatment based on EUGOGO guidance. Such therapy has the potential for serious adverse effects. We present the outcomes of an alternative approach in the management of moderate-to-severely active TED, using steroid-sparing agents (SSAs) in conjunction with IVMP. Methotrexate is used as the first-line SSA a...

Objective: To analyze the clinicopathological features of pseudohypoparathyroidism (PHP), that would help clinicians to consider this rare condition in children.Methods: A retrospective review of nine patients with PHP (including seven males and three females) admitted to our hospital between 1990 and 2014 was conducted. Clinical and biochemical parameters along with epidemiological data were extracted and analyzed.Results: The mea...

Objective: Objective to study the hypolipidemic efficacy, hepatoprotective activity, and tolerance of the fixed-dose combination of essential phospholipids with methionine (EPL+M) - Eslidine in the combination therapy with A in patients (pts) with cardiovascular diseases (CVD) and type 2 DM who suffer from hyperlipidemia (HL) in order to optimize their treatment in daily clinical practice.Subjects and methods: The trial enrolled 60 pts (mean age 58.1&#17...

Case history: An 80-year-old female presented with progressive leg and facial swelling, postural dizziness, generalised lethargy and reduced mobility. She suffered with chronic kidney disease (stage 3), rheumatoid arthritis and hypertension and had undergone partial thyroidectomy. Examination revealed marked bilateral leg oedema to the sacrum, facial oedema, an ejection systolic murmur, normal JVP and a clear chest.Investigations and results: Investigati...

An 86-year old man was admitted to hospital with gradual decline in mobility and leg weakness. Co-morbidities included atrial fibrillation, hypertension and osteoarthritis. The adjusted serum calcium on admission was 3.42 mmol/l; bone profile showed phosphate 0.56 mmol/l, alkaline phosphatase 140 U/l, albumin 34 g/l, parathyroid hormone 21.4 pmol/l. He was vitamin-D replete (68 nmol/l) with normal renal function. The hypercalcaemia was not thought to be due to any medications....