Endocrine Abstracts

A 63-year-old lady was admitted with a 10 day history of central abdominal pain associated with constipation and vomiting. She was diagnosed with myelodyplasia 11 years previously and required regular blood transfusions but was otherwise fit and well. On this presentation, she was apyrexial with a heart rate of 72 beats per minute and blood pressure of 170/74. Her abdomen was soft with mild periumbilical tenderness. Routine blood investigations showed haemoglobin of 10.2 g/dl ...

Primary ovarian insufficiency (POI) is a highly heterogeneous condition defined by the occurrence of amenorrhoea, hypoestrogenism and hypergonadotropinism in women under 40. POI onset can be triggered by multiple factors, such as iatrogenic events, environmental conditions, autoimmunity or genetic alterations. When the ovarian insufficiency occurs as a consequence of either chromosomal or genetic alterations, it can be associated with other congenital abnormalities and classif...

Background: Glucocorticoids are crucial for treating various medical conditions due to their beneficial immunosuppressive effects. However, glucocorticoids also carry a high risk for osteoporosis. Notably, within just a few months of glucocorticoid therapy, bone density can be significantly reduced, and up to 5% of patients undergoing such treatment may experience fractures. There is promising evidence from preclinical studies and observations in patients with type 2 diabetes ...

Introduction: Secondary hormonal deficiencies (SHD) are frequently observed in patients with pituitary adenomas. We previously reported that pituitary tumour clinical subtypes were associated with specific patterns of SHD, and nonfunctioning adenomas (NFAs) were more likely to present with multiple SHD. We extended our work to examine if the immunohistochemical staining patterns of NFAs impacted SHD.Methods: All clinically NFAs surgically removed between...

We report the first case of familial adrenocortical carcinoma (ACC) in association with hereditary non-polyposis colorectal cancer (HNPCC) in a family with a MSH2 germline mutation.HNPCC, an autosomal dominant disorder caused by mutations in one of the DNA mismatch repair (MMR) genes, is the commonest cause of hereditary colon carcinoma, and is associated with an increased risk of certain non-colonic cancers (e.g. endometrial, ovarian, urin...

Introduction: Patients with adrenal insufficiency (AI), continue to face many challenges including: dealing with symptoms and associated disorders; managing medication regimens; prevention and management of complications, and effective engagement and interactions with healthcare providers. In patients with AI, adrenal crisis (AC) continues to lead to unnecessary deaths. We illustrate how University Hospitals Birmingham NHS Foundation Trust used the 4E framework (En...

Polycystic ovary syndrome (PCOS) is a multifactorial, complex endocrine disorder affecting a significant proportion of the global population. Hyperandrogenism is a key feature of PCOS patients. Aberrant secretion and/or action of gonadotropins have been implicated in PCOS, but, to date, we have only limited knowledge of how these factors may interact in the aetiology of PCOS. We hypothesised that excess androgens may cause aberrant gonadotropin activity and therefore sought to...

Background: The combined effect of the COVID-19 pandemic and associated restrictions have adversely affected population mental health. Periods of psychological distress can induce menstrual dysfunction. We previously demonstrated a significant disruption in women’s reproductive health during the first 6 months of the pandemic. The present study investigates longer term reproductive and mental health disturbances.Materials and Methods: An online surv...

Background: No effective blood biomarker exists to detect and clinically manage bronchopulmonary (BP) neuroendocrine tumors. We developed a blood-based 51 neuroendocrine tumor (NET)-specific transcript set to diagnose and monitor gastroenteropancreatic NETs. In this study, we examined whether the signature functioned in lung NETs. Thereafter, we examined performance metrics to assess clinical utility. The multianalyte gene signature accurately diagnosed the tumor and in additi...

Introduction: Despite public health interventions, paediatric obesity in the UK is increasing, with almost one third overweight or obese. The direct cost of obesity to the NHS is estimated at 4.2 billion a year. The North-East has some of the highest rates of obesity in the country. A recent clinical practice guideline (March 2017) from European and US Endocrine societies aims to inform assessment, treatment and prevention of paediatric obesity.Aim: To e...