Endocrine Abstracts

Hypoparathyroidism is an uncommon condition characterized by reduced parathyroid hormone production resulting in hypocalcaemia with its clinical manifestations. A minority of cases are familial and exist as either isolated disease or as part of well described, multisystem syndromes. Mutation in the Autoimmune regulator gene (AIRE) results in Autoimmune Polyglandular Syndrome type 1 featuring hypoparathyroidism as a part of the syndrome. This case reported herein describes a mu...

Maternally inherited diabetes and deafness (MIDD) is rare subtype and monogenic form of adult onset diabetes caused from point mutation at position 3243 of mitochondrial DNA. The name indicates the main features of disease including diabetes and sensorineural hearing loss. About one percent of people with diabetes can have MIDD but the diagnosis can be challenging and needs high clinical suspicion on basis of family history, clinical features of diabetes, deafness and unusual ...

Primary hyperparathyroidism (PHPT) is commonly the first and most frequent clinical manifestation in MEN1 occurring in up to 95% of patients. Clinical course differs to that of sporadic PHPTH in terms of complications, surgical management and recurrence rates. This study aims to review the challenges of PHPT in MEN1. Retrospective analysis of patients attending a dedicated MEN1 clinic, under long-term review was carried out (n = 26). 85% had PHPT (n = 22; mal...

Primary hyperparathyroidism (PHPT) is commonly the first and most frequent clinical manifestation in MEN1 occurring in up to 95% of patients. Surgery is considered the treatment of choice. Clinical course differs to that of sporadic PHPTH in terms of age of onset, complications, surgical management and recurrence rates. This study aims to review the challenges of PHPT in MEN1. Retrospective analysis of patients attending a dedicated MEN1 clinic in the Royal Victoria Hospital, ...

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 ...