Endocrine Abstracts

Drug addiction is a brain psychiatric disorder, whose etiology involves interaction of inherited predispositions and environmental factors. Addictive drugs share the properties of being self-administered by laboratory animals, and of activating the brain reward circuitry, which stems from the ventral tegmental area (VTA) where dopamine (DA) cells are located. These neurons are involved in neural processing contributing to drug addiction and DA plays a crucial role as learning ...

Pancreatic β cell dysfunction and death are central in the pathogenesis of type 2 diabetes but the underlying mechanisms are not well understood. Genetic factors predispose to type 2 diabetes but, despite very large scale genome-wide association studies, the heritability of the disease remains largely unexplained. Environmental and lifestyle factors contribute to the pathogenesis of type 2 diabetes and likely explain its rapidly increasing prevalence. Elevated levels of s...

Objectives: Autoimmune diseases are typically studied with a focus on the immune system, and less attention is paid to responses of target tissues exposed to the immune assault. We aimed to evaluate, based on available bulk RNA sequencing data, whether inflammation induces similar molecular signatures in the target tissues of five autoimmune diseases, namely type 1 diabetes (T1D), Hashimoto’s thyroiditis (HT), rheumatoid arthritis (RA), multiple sclerosis (MS) and systemi...

Background: Near-patient capillary beta-hydroxybutyrate (BOHB) meters have been available for several years but evidence as to their clinical utility and reliability in children is still growing. Anecdotal evidence suggests that patients may have a significantly high level of capillary ketones but look clinically well, little evidence is available as to the kind of levels of blood ketones that paediatric patients can clinically compensate for. There is a move towards home bloo...

Deficiency of 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3), an enzyme converting androstenedione (A) to testosterone (T) in the Leydig cells of the testis, is a rare cause of autosomal recessive 46,XY disorders of sexual development (DSD). A 18-year-old phenotypically female patient presented with primary amenorrhea. She had deep voice, macrocephaly, broad forehead, enlarged nasal tip, macrostomia, facial acne, gynecomastia, left-convex dorsal scoliosis, hypopla...

Phaeochromocytoma/paragangliomas (PPGLs) are relatively rare tumours and the health burden of such tumours is not very well known.Aim: This population based study aims to characterise all the phaeochromocytomas, paragangliomas and adrenal medullary hyperplasia diagnosed between 2007 and 2016 in Malta; looking into presentation, hormonal analysis, imaging characteristics and histology findings.Results: 16 ...

Phaeochromocytoma/paragangliomas (PPGLs) are relatively rare tumours and the health burden of such tumours is not very well known.Aim: This population based study aims to characterise all the phaeochromocytomas, paragangliomas and adrenal medullary hyperplasia diagnosed between 2007 and 2016 in Malta; looking into presentation, hormonal analysis, imaging characteristics and histology findings.Results: 16 ...

Background: The National Patient Safety Alert (2020) and introduction of the NHS Steroid Emergency Card has led to the development of guidelines, publications and patient information, aiming to improve safety and management of adrenal insufficiency and prevention of adrenal crisis. Health Education England (HEE), ‘Plain English’ and NHS England guidance recommends patient information is accessible and clear to a broad range of people, to ensure patients are fully awa...

A sixty-four-year old lady with a past medical history of total thyroidectomy for Graves’ disease and atrial fibrillation on amiodarone was referred to the endocrine out-patients in view of hypothyroidism. Since starting amiodarone, the TSH was noted to be elevated at 75 mU/l and the free T4 was 18 pmol/l. The patient complained of non-specific lethargy and was administered levothyroxine 50 mcg daily. Despite this her TSH remained elevated at 147 mU/l with a free T4 of 17...

Pituitary apoplexy arises when haemorrhage and/or infarction occurs within a pituitary tumour. In Malta, the estimated standardised incidence rate (SIR) of apoplexy is 0.15/100,000/yr. ACTH secreting pituitary adenomas have a SIR of 0.17/100,000/year.Case Report: A 46 year-old gentleman with a history of poorly controlled diabetes mellitus was referred following the diagnosis of a pituitary adenoma. He had presented with a 1.5 year history of left third ...