Endocrine Abstracts

A 44-year-old gentleman presented to the Emergency Department with a 2-week history of fever and rigors. Past medical history was unremarkable other than an earlier diagnosis of hypertension. He was noted to have new onset atrial fibrillation with rapid ventricular response; a diagnosis of hypertrophic obstructive cardiomyopathy (HOCM) was made on echocardiography. In addition, a vegetation was identified on the mitral valve. Treatment for infective endocarditis (Streptoco...

Background: Non-alcoholic fatty liver disease (NAFLD) is now the most common liver disease in children and young people. NAFLD can progress to cirrhosis and is associated with cardiometabolic morbidity and mortality, often requiring liver transplant. Brown adipose tissue (BAT) expends energy for thermogenesis when activated by pharmacological agents, e.g. β3-adrenergic receptor agonists, or environmental signals such as cold exposure. We hypothesise that intermittent cold...

Background: The pathogenesis of autoimmune Addison’s disease (AAD) remains incompletely understood, but it is thought to be due to interplay between genetic, immune and environmental factors. A month of birth effect, with increased risk amongst those born in autumn and winter months, have been described in autoimmune conditions such as type 1 diabetes and autoimmune thyroid disease.Aim: To investigate month of birth effect in two independent cohorts...

From human epidemiological and related studies, there is strong (indirect) evidence that common male reproductive disorders that manifest at birth (cryptorchidism, hypospadias) or in adulthood (low sperm count, low testosterone, primary hypogonadism) may have a common origin in foetal life due to impaired androgen (testosterone) production or action; the so-called testicular dysgenesis syndrome (TDS) hypothesis. Whilst the foetal origin of cryptorchidism and hypospadias is sel...

The 21-hydroxylase (21OH) gene, CYP21A2, encodes the 21OH steroidogenic enzyme which is the primary autoantigen in autoimmune Addison’s disease (AAD). It is located on chromosome 6p21, in a copy number repeat termed RCCX, adjacent to the 21OH pseudogene (CYP21A1P). CYP21A1P is highly homologous to CYP21A2 but contains an 8 bp deletion in exon 3 (707-714delGAGACTAC) which results in a frameshift. The predicted protein product is...

Background: Hyperthyroxinaemia with non-suppressed TSH, due to resistance to thyroid hormone (RTH) or TSH-secreting pituitary tumour (TSHoma), can be difficult to diagnose, particularly with coincident autoimmune thyroid disease (AITD).Methods: To determine presentation patterns of AITD coincident with RTH or TSHoma, we analysed our cohort of cases with dual diagnoses.Results: Nine patients with RTH had AITD. Six had Graves’ d...

Introduction: The effect of BMI on mortality amongst the elderly may be different from younger adults. Thus, this study aims to determine the relationship between BMI and its 5-year changes on all-cause and cause-specific mortality in the elderly.Methods: During 1992–1994, the Blue Mountains Eye Study recruited 3654 residents aged ≥49 years in Sydney, Australia. Of these, 75% of survivors returned for follow-up at 5 years. We initially examine...

Background: 5-Cytosine methylation of DNA is a means of encoding epigenetic information. In the testis, the generation of de novo methylation is conducted by the enzymes DNMT3a and 3b and the co-enzyme DNMT3L. Epigenetic marks made to the DNA of germ cells are important as a potential means of trans-generational carriage of environmental information. In fetal life, germ cell demethylation and remethylation are important physiological events and these overlap with key ...

Background: A diagnosis of Addison’s disease means lifelong dependence on daily glucocorticoid and mineralocorticoid therapy and is associated with increased morbidity and mortality, as well as a risk of unexpected adrenal crisis. We wished to explore whether immunomodulatory therapy at an early stage of autoimmune Addison’s disease could lead to preservation or improvement in adrenal steroidogenic function.Design: We conducted an open-label, p...

Introduction: Effects on fertility have been seen as important late effects of treatment for childhood cancer.Aim: To evaluate the impact of chemotherapy and radiotherapy treatment for childhood medulloblastoma on gonadal function.Methods: Retrospective cohort study of all children treated for medulloblastoma (diagnosed from 2–18 years) in a single institution in the UK between 1983–2011 and a minimum relapse-free surviva...