Endocrine Abstracts

Familial hypocalciuric hypercalcaemia consists of 3 subtypes which are all inherited in an autosomal dominant manner and caused by inactivating mutations. FHH type 1 is most common (>65%) and is due to mutation in the calcium sensing receptor gene (CaSR), FHH2 due to GNA11 mutation and FHH 3 due to AP2S1 gene mutation (has been found in both kindreds from Oklahoma and Northern Ireland). FHH results in hypercalcaemia and hypocalciuria. It is usually asymptomatic, requiring ...

This is a case of an 18-year-old person living with Type 1 Diabetes, presenting with unusual severe hypoglycemic episodes, on insulin Detemir twice daily and insulin Aspart with meals. Episodes appeared prolonged in duration requiring IV glucose infusions with a total of four inpatient admissions. Intentional overdose was recurrently denied, and smart insulin pen downloads confirmed normal expected insulin dosing. Investigations included a Short Synacthen Test with a stimulate...

Selenium (Se) supplementation is recommended by the European Group (EUGOGO) for mildly active TED (200 mg/day for six-months) based on a seminal RCT which reported slowing of disease progression vs placebo. Treatment in Se deficient geographical areas may be particularly important. We recently reported Se deficiency in a cohort of 240 pregnant women in NI. The TEAMeD-NI group was set up in 2019 as part of the UK-wide quality improvement program to take a proactive approach to ...