Endocrine Abstracts

A 36-year-old man was referred to the neurologists for leg weakness and pain, fatigue and lethargy for 2 years. Sarcoidosis was diagnosed 6 years previously, on the basis of uveitis, lower motor neurone facial palsy, hilar lymphadenopathy and transbronchial biopsy. Prednisolone had been discontinued 3 years prior to his current presentation.His blood pressure was 99/71. Examination was otherwise unremarkable. His ACE was 109 U/l (10–70). His TSH was...

Background: Aldosterone levels in plasma are reported to be associated with risk of hypertension. Aldosterone secretion from the zona glomerulosa is regulated acutely by the renin/angiotensin system and plasma potassium. The role of ACTH in regulation of aldosterone secretion is disputed.Aim: We have utilised a large population study of middle aged adults to test the extent to which acute aldosterone responses to ACTH are associated with cortisol respons...

Objective: To assess adherence to RCP guidelines on radioiodine (RAI) treatment (1995) and management of thyroid eye disease, and also to look at patterns of thyroid function following RAI treatment.Method: Retrospective case notes review of 78 randomly selected patients from one acute trust. An audit performa was developed, based on the RCP guidelines.Results: The audit demonstrated significant deviations from standards. Communica...

Hypoparathyroidism is a rare disorder characterised by hypocalcaemia and insufficient or undetectable parathyroid hormone (PTH). Recombinant human PTH, rhPTH(1-84), has been approved in the United States and Europe as an adjunctive treatment for adult patients with hypoparathyroidism. When hypoparathyroidism is established, long-term administration of rhPTH(1-84) is a treatment option. Thus, long-term safety and efficacy data for rhPTH(1-84) are needed. To this end, we evaluat...

Background: Nutritional data in NETs is lacking. There are a range of gastrointestinal issues which can be related to the NET, treatment, surgical intervention, or pre-existing diseases1. Many of these can have nutritional consequences or be improved through altering diet with the support of a specialist dietitian.From October 2018, a gastrointestinal specialist dietitian joined the weekly clinic for 12 months. The aim of the service evaluatio...

Section 1: Case history: We present the case of a 21-year-old lady known to harbour a homozygous inactivating mutation of the calcium sensing receptor (CaSR) which led to uncontrolled hypercalcaemia in infancy, necessitating emergency total parathyroidectomy. The CaSR plays an important role in calcium homeostasis. Inactivating mutations result in a higher calcium “set-point” and various degrees of hypercalcaemia based on the severity of functional impairment. In the...

Background: One in 5 million children is affected by adrenocortical carcinoma (ACC) each year. Since prognosis for children older than 4 years is limited, clinicians often choose aggressive treatment with etoposide, doxorubicin, cisplatin (EDP) and mitotane after resection. However, little is known about the impact of EDP-mitotane on development in children. We therefore aimed to provide an overview of side-effects and neurocognitive effects of EDP-mitotane in children.<p ...

Background and Aim: Thyroid hormone beta receptor (TRβ) agonists have shown promising results to improve non-alcoholic steatohepatitis in preclinical studies and clinical trials. However, a recent cross-sectional study on human liver biopsies found that TRβ expression decreases during non-alcoholic steatohepatitis (NASH), which may indicate developing thyroid hormone resistance and pose a challenge for TRβ agonists. We aim to study how the changes in TRβ ex...

Introduction: Liquid biopsies have revolutionised cancer care, from accurate diagnosis to guiding treatment and surveillance. Here, we used shallow Whole Genome Sequencing (sWGS); a cost-effective and easy-to-perform test to explore concordance of copy number alterations (CNAs) between formalin-fixed paraffin-embedded (FFPE) tissue extracted DNA and circulating cell-free DNA (cfDNA) in patients with Thyroid Cancer (TC) during different stages of the disease. <...

Self-limited delayed puberty is a condition that is frequently familial with strong genetic determinants. It has been linked to coding region sequence variation by next generation sequencing of affected individuals, identifying genetic regulation of gonadotropin-releasing hormone (GnRH) pathways underlying this condition. However, the role of epigenetic modifiers of human pubertal timing is underexplored. The Hypothalamic-pituitary-gonadal (HPG) axis is unique as it is active ...