Endocrine Abstracts

Background: PHID is a novel syndrome caused by mutations in SLC29A3, which encodes for the nucleoside transporter protein hENT3. It is associated with multiple endocrine manifestations including severe short stature, pubertal delay and pancreatic exocrine insufficiency. Mutations in SLC29A3 have also been linked to H syndrome and familial Rosai Dorfman Disease (RDD). A key feature of these syndromes is persistent inflammation. Currently there is no treatment for ...

Introduction: Obesity is one of the biggest health challenges we currently face. Obesity results from imbalance of energy consumption and expenditure. Genetic studies on monogenic forms of obesity and Genome Wide Association studies have revealed neuronal mechanisms of genesis of obesity and/or leanness. We report a novel disorder of increased energy expenditure with severe failure to gain weight and increased brown fat.Case report: The proband is a whit...

Background: We observed patients with well-differentiated NETs who received PRRT with 177Lu-dotatate and later developed rapid disease progression with biopsy-proven histologic transformation to NECs, an outcome that has not been previously described. In this series, we characterize the clinicopathologic features and outcomes of patients whose tumors underwent poorly-differentiated transformation.Methods: After obtaining IRB approval, we condu...

We present a case of a 44-year-old female with fluctuating thyroid function over 12-14 years. The patient originally presented with a high TSH, normal free T3/T4 and a negative anti-TPO antibody. She was initially monitored, then went onto Levothyroxine replacement in an antenatal setting. Subsequently, 12-18 months later, she presented with hyperthyroid symptoms and vastly elevated TSH-receptor-antibody (TSHR-ab) titre of >10 IU/L, the upper limit of normal being 2.9 IU/L...

A recent case series commented on adverse COVID-19 outcomes among patients with Cushing’s syndrome, despite minimal symptoms and low inflammatory markers. Excessive glucocorticoids can impede adaptive immune response to viruses, leading to increased infection risks (1). Sarker et al discussed glucocorticoids binding to viral spike-proteins, inhibiting receptor interactions and contributing to prolonged positive swabs, in the absence of symptoms (2). We report the c...