Endocrine Abstracts

Introduction: The ideal strategy and the role of the different therapeutic options in acromegaly remain unclear. This research focuses on observing treatment options, and the respective level of disease control in acromegaly.Methods: A retrospective chart audit was conducted in US, France, Italy, and Brazil (September 2012). 97 endocrinologists completed structured case report forms for the 4 most recently-seen patients (two with somatostatin analogues (...

Background: Bardet Biedl syndrome (BBS) is a rare autosomal recessive disorder caused by ciliary dysfunction. It is characterised by rod cone dystrophy, polydactyly, renal dysfunction, cognitive impairment. Endocrine consequences are thought to include hypogonadism, obesity and polyuria. However little is known about the endocrine and metabolic abnormalities in adult patients.Methods: One hundred and fifty-four patients with BBS were identified through t...

Introduction: Bardet-Biedl Syndrome (BBS) is a rare, autosomal recessive ciliopathy, with a prevalence of 1 in 100,000–160,000, caused by mutations across >20 known genes encoding for proteins responsible for primary cilium/basal body complex integrity. Endocrinopathies associated with BBS include hypogonadism, hypothyroidism, and the metabolic complications of obesity. The endocrine characteristics of a large adult BBS cohort have been reported; howe...

Background: Gastroenteropancreatic Neuroendocrine Neoplasms (GEP-NENs) are a rare subset of cancers which nevertheless are a rising health burden. Development of new therapies suffers from several bottlenecks, including low patient accrual and poor understanding of tumor characteristics. Patient tumor organoids (PTOs) are a novel model capable of improving screening of patient tissue in an accurate, standardized, and high-throughput capacity. In this study, we utilized patient...

Background: In patients with Bardet-Biedl syndrome (BBS), signaling impairments in the melanocortin-4 receptor (MC4R) pathway lead to hyperphagia and severe obesity, which negatively impact quality of life (QOL). We evaluated the impact of setmelanotide, an MC4R agonist, on age-appropriate weight-related parameters, hunger, and QOL in a Phase 3 trial of patients with BBS to further characterize clinical benefit in this patient population.Methods: Patient...

Introduction: Patients with Cushing’s disease have significantly impaired health-related quality of life (HRQoL). Effective treatment is needed to treat Cushing’s disease and improve HRQoL; however, there are currently no approved medical treatments for Cushing’s disease. The effect of pasireotide on HRQoL in patients with Cushing’s disease was evaluated as part of a randomized, phase III study.Methods: Patients with persistent/recurr...

Congenital Hyperinsulinism (CHI), a common cause of persistent hypoglycaemia in infancy can be associated with feeding problems (FP). The extent of FP in CHI is not known. The commonest genetic cause of CHI is mutations in ATP-sensitive potassium (K+ATP) channel genes (ABCC8 and KCNJ11).Aims: To define FP in CHI patients presenting to a regional centre, in relation to medication and K+ATP ...

99mTc-Sestamibi (SeS) is a standard tool for localization of adenomas/hyperplasia (PA) in hyperparathyroidism (HPTH), designed on the difference between thyroid and parathyroid tissue radiotracer washout on early and late scintigraphy phases. However, PA have been reported to washout as fast as normal thyroid tissue (‘rapid washout’, RW), which may lead to diagnostic failure. The aim of the study was to determine a correlation of RW of SeS from parathyroid...