Endocrine Abstracts

Background: Primary hyperaldosteronism (PA) is a prevalent, but underdiagnosed syndrome. Diagnosis and treatment have been relatively constant since the development of the latest Endocrine Society guidelines in 2016.Study objective: Baseline characteristics, treatment and follow-up of subjects with PA referred for adrenal venous sampling (AVS) in a tertiary hospital since 2009 are presented.Results: Thirty five subjects (M/F: 17/18...

Background: The 5-year survival rate for patients with unresectable, metastatic pancreatic neuroendocrine tumors (pNETs) remains less than 30%, emphasizing the need for new and effective treatment options for patients with advanced pNETs. Notch1 signaling is a critical cell-cell communication pathway responsible for regulating differentiation, cell fate determination, and epithelial-mesenchymal transition (EMT). Notch1 plays a critical role in the differentiation state of NE c...

Background: There are known outcome disparities between Black and White patients with pancreatic neuroendocrine tumors (pNETs). Recently, Black patients were shown to have higher rates of lymph node metastasis in smaller tumors than White patients, indicating possible differences in tumor biology. Numerous prognostic gene expression differences between racial groups have been reported in other cancers, but no such analysis has been conducted in pNETs. This study evaluated pNET...

Introduction: Graves’ disease (GD), similarly to most autoimmune disease, is triggered by environmental factors in genetically predisposed individuals. Particular HLA alleles increase or decrease GD risk. We have recently demonstrated novel, previously not reported association between a presence of alleles HLA-B*39:06, -B*37:01, -C*14:02, -C*03:02, -C*17:01, -DRB1*14:01 and GD. These alleles are independent risk factors, with no linkage disequilibrium with other,...

Introduction: Subacute thyroiditis is a thyroid inflammatory disease, triggered mainly by viral factors in genetically susceptible individuals. Up to 2020, only HLA-B*35 was confirmed as SAT-related. However, obviously in HLA-B*35-negative patients, some other genetic background occurs. Material and Methods: We performed HLA-typing using high resolution NGS method in different groups of patients with SAT and demonstrated the new association between HLA a...

Chronic hypoparathyroidism affects ~2.5/10 000 individuals in the European Union and is classified as a rare disorder. There is limited knowledge of the natural history and epidemiology of this disease. Publications frequently represent a single center’s experience and information across the population of patients with hypoparathyroidism is lacking and needed. To fill the gap, a voluntary global hypoparathyroidism patient registry (PARADIGHM) was initiated by NPS Pharmace...

Introduction: Low energy trauma fractures are prevalent in end-stage liver disease and after orthotopic liver transplantation (OLT). However, data on bone mineral density (BMD) are scarce in these patients. In this study, we evaluated the natural course of changes in BMD after successful OLT.Study design: All recipients of a successful OLT between 2000 and 2011 from the Leiden University Medical Centre, in whom BMD data were available, were included. Pat...

Chronic hypoparathyroidism (HypoPT) is a rare disease associated with a variety of symptoms and diminished health-related quality of life (HRQoL). This study aimed to characterise and quantify the symptom burden, HRQoL, and overall disease impact in patients receiving recombinant human parathyroid hormone (rhPTH1-84, Natpar®) for inadequately controlled HypoPT and in symptomatic patients receiving standard therapy (ST; calcium and/or vitamin D supplements). A w...

Background: The 5-year survival rate for patients with advanced pancreatic neuroendocrine tumors (pNETs) is less than 30%. Notch signaling is a transmembrane receptor pathway with four distinct isoforms, activation of which is linked to cellular differentiation, cell fate, and viability. Both Notch1 and Notch3 signaling have been shown to be dysregulated in pNETs. Notch3 activation has been shown to repress Notch1 activity in other cancers. We hypothesize that activation of No...

Abnormal foetal growth is associated with an increased predisposition to impaired glucose metabolism (Hales and Barker. Diabetologia 1992; 35: 595-601). The aim of the study was to examine whether size at birth influenced glucose tolerance in pigs at 5 months of age.The litters from 4 multiparous sows were weighed at birth. A low (L: <10th percentile) and normal (N: 40th-60th percentile) piglet was selected from each l...