Endocrine Abstracts

Phaeochromocytoma in association with hypercortisolism is thought to be rare. However we have observed 4 cases in 3 years and question the rarity of this link. In each case there was a dominant adrenal mass (3.6-7.7cm) with contralateral adrenal hyperplasia. Three of the 4 tumours showed increased 123-I-mIBG uptake. Urinary catecholamines ranged from 872-22752nmol/24h (N < 600). Hypercortisolism was present in all 4 patients; sustained in 2 and cyclical in 2. Case 1 (JCEM ...

Background: Islet transplant into the liver is a therapy for type 1 diabetes patients experiencing severe hypoglycaemia or impaired hypoglycaemic awareness. Widespread use is not currently considered due to the requirement for immunosuppression for the lifetime of the graft, and the attrition in graft function over the following 1-5 years. Following transplant into the liver, inflammation results in >60% islet loss, with few patients achieving insulin independence. The liv...

Background: Patients with neuroendocrine neoplasms (NENs) may often develop other malignancies. This study aimed to identify the frequency at which these second non-NEN malignancies occurred in England.Methods: Data was extracted from the National Cancer Registration and Analysis Service (NCRAS) on all patients diagnosed with a NEN at one of eight NEN site groups between 2012-2018: appendix, caecum, colon, lung, pancreas, rectum, small intestine and stom...

Background: Gestational diabetes mellitus (GDM) is common complication in pregnancy. During pandemic COVID-19, endocrine service iniciate telemedicine in medical care and monitoring blood glucose.Purpose: The purpose of this study was to asses metabolic control and pregnancy outcome during pregnancy in telematic consult.Materials and Methods: Descriptive study of 20 patients were assesed in telematic review in the first wave of the...

Background: Pathogenic variants in genes encoding Succinate Dehydrogenase subunits B and D (SDHB/SDHD) predispose to Phaeochromocytoma and Paraganglioma (PPGL). Cascade genetic screening identifies relatives at risk and allows surveillance screening to enable early detection of PPGLs.Methods: Retrospective analysis of genetic databases and hospital records between January 2000 and December 2018 identified relatives carrying SDHB and <em...

Glucocorticoid (Gc) excess, either endogenously produced (Cushing’s syndrome) or as a result of exogenous steroid treatment, can cause metabolic disorders such as obesity and hyperglycaemia. The contribution of centrally acting corticosterone in the development of these metabolic disorders is unknown. Gcs regulate the anorexigenic and orexigenic neuropeptides (POMC and AgRP) within the arcuate nucleus of the hypothalamus to modulate energy balance. This study investigated...

Background: A proof-of-concept study (LINC 1) demonstrated that after 10 weeks, LCI699 normalized UFC in 11/12 patients with Cushing’s disease. This interim analysis of the first eight patients enrolled into a longer-term study (LINC 2) further evaluates LCI699 in Cushing’s disease; the full analysis on all 19 enrolled patients is expected in time for the congress.Methods: There were two study groups. Previous LINC 1 participants (follow-up coh...

Although bariatric surgery is the most effective weight loss therapy, its skeletal consequences are unclear. The aim of this study was to assess the impact of weight loss, gut hormones, adiponectin on bone loss in people undergoing Dieting (Diet), Gastric Banding (GB) and Gastric Sleeve (GS) over 24 months post-intervention.There were 15 Diet, 8 GB and 20 GS subjects with mean (±S.D.) age 53 (12) years and BMI 39 (6). At 12 months mea...

Mammalian genes display pulsatile transcription dynamics with bursts of expression occurring with variable duration and frequency. Using the human prolactin gene as a model of tissue specific gene regulation, we have characterised the transcription dynamics of this gene in cell lines, primary cells and pituitary tissue slices. Our data indicate that the tissue environment may have an important influence on cellular transcription activity. Cultures of cells from enzymatically d...

Background: SOX2 is an early developmental transcription factor implicated in pituitary development. It consists of a N-terminal domain, a high mobility group (HMG)-DNA binding domain and a carboxyl-terminal domain. Heterozygous SOX2 mutations have been described in patients with a severe ocular phenotype and hypogonadotrophic hypogonadism (HH) with/without associated abnormalities. In vitro SOX2 interacts with β-catenin, a member of the Wnt signalling pathway, and...