Endocrine Abstracts

Hypoparathyroidism, a rare disorder characterized by absent or low levels of parathyroid hormone (PTH), often results from thyroid surgery. However, nonsurgical etiologies are present in >10% of patients. Data about this group of patients are limited.In this post hoc REPLACE (NCT00732615, EudraCT2008-005063-34) analysis, baseline characteristics and response to 50–100 μg/day rhPTH(1-84) in patients with postsurgical or nonsurgical ...

Hypoparathyroidism is a rare endocrine deficiency due to inadequate amounts of parathyroid hormone (PTH) and is characterised by hypocalcaemia and hyperphosphataemia. Current management regimens with large amounts of oral calcium and active vitamin D do not adequately control mineral homeostasis and can lead to complications in many patients. The phase III REPLACE and RELAY clinical trials established the efficacy and safety of once-daily s.c. injection of r...

Context: Loss-of-function of immunoglobulin superfamily 1 (IGSF1) causes an X-linked syndrome of central hypothyroidism, macroorchidism, and variable prolactin deficiency, GH deficiency in childhood, delayed pubertal testosterone rise, and/or obesity. The clinical features advert towards a pivotal role for IGSF1 in the pituitary gland, but detailed knowledge on pituitary hormone secretion in this syndrome is lacking.Objective: To study detailed ...

Although chronic hypoparathyroidism is known to negatively affect health-related quality of life (HRQoL), burden of illness is less well defined in patients whose disease is not adequately controlled on conventional therapy. We report burden of illness for the European subset of a patient survey in 13 countries globally. 398 adults with chronic hypoparathyroidism not adequately controlled on conventional therapy (recruited by treating physician or patient association) complete...

Significant knowledge gaps exist regarding the humanistic effects of chronic hypoparathyroidism (HPT), a rare, debilitating condition. We provide interim results from a global survey conducted to characterise the burden associated with chronic HPT from the patient perspective. An anonymous, self-reported survey (online or paper) was conducted in patients with chronic HPT, not adequately controlled with standard therapy by self-perception, from 12 countries through physicians o...

Background: Cancer cells utilize both oxidative phosphorylation (OXPHOS) and glycolysis to generate energy. Switching between OXPHOS and glycolysis can promote tumor progression. The mechanisms governing oncogenic metabolic flexibility are largely unknown, but recent data has suggested that Notch1 dysregulation in cancer cells can contribute to altered metabolic phenotypes. We hypothesized that Notch1 signaling supports metabolic flexibility in pancreatic neuroendocrine tumor ...

Background: Following IHC of CALR, H-scoring was performed by a pathologist. H-scoring was validated by MIF of the same tissue, wherein random-forest machine learning (ML) classifiers were employed to classify cells. ML classifiers were trained to distinguish between pNET cells and tumor stroma using approximately 30% of cells for the respective cell population of interest in each TMA core. Pearson’s correlations were used to evaluate the relationship between H-scoring an...

Aim: Healthy adipose tissue contains numerous innate and adaptive immune cells that carry a type 2 cytokine immune signature, controlled by IL-33 and reflected by accumulation of ST2+ T regulatory cells (Tregs), type 2 innate lymphoid cells (ILC2s), and alternatively activated macrophages. These type 2 responses are lost in mice or humans on high-caloric diets that lead to obesity. Understanding how type 2 immunity is regulated in adipose tissue could contribute to ...

Background: Patients with hypoparathyroidism experience significant physical and cognitive symptoms and reduced health-related quality of life (HRQoL). Conventional therapy for hypoparathyroidism does not fully alleviate diminished HRQoL. The Hypoparathyroidism Patient Experience Scales (HPES) were developed to assess disease-specific physical and cognitive symptoms as well as the impact of hypoparathyroidsm on HRQol. TransCon PTH, an investigational long-acting prodrug of par...

Objective: The thyroid fine needle aspiration biopsy (FNAB) may bring inconclusive cytological results of atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS) or follicular neoplasm/suspicious for follicular neoplasm (FN/SFN). The objective of the study was to describe the genetic landscape of indeterminate thyroid nodules to better understand this phenomenon and identify genetic markers potentially differentiating benign and malignant ...