Searchable abstracts of presentations at key conferences in endocrinology

ea0070ep547 | Hot topics (including COVID-19) | ECE2020

Familial Isolated Hypoparathyroidism caused by AIRE gene mutation

Aamir Shahzad Muhammad , Ann Brosnan Dr. Elizabeth , Sajjad Sadiq Muhammad

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...

ea0070aep1038 | Hot topics (including COVID-19) | ECE2020

Gestational diabetes as unusual presentation of maternally inherited diabetes and deafness (MIDD)

Akbar Ali Uzair , Sajjad Sadiq Muhammad , Ann Brosnan Dr. Elizabeth , Aamir Shahzad Muhammad

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 ...

ea0104p154 | Neuroendocrinology | SFEIES24

Primary hyperparathyroidism in multiple endocrine neoplasia type 1 (MEN1): the northern ireland (NI) experience

Ahmed Doua , Shahzad Muhammad A. , D'Arcy Robert , Graham Una M. , McHenry Claire M.

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...

ea0105p3 | Poster Presentations | UKINETS2024

Primary hyperparathyroidism in multiple endocrine neoplasia type 1 (MEN1): Northern Ireland’s (N.I) experience

S Ahmed Doua , A Shahzad Muhammad , Wallace Ian , D'arcy Robert , M Graham Una , McHenry Claire M

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, ...

ea0104p205 | Thyroid | SFEIES24

Selenium prescribing for thyroid eye disease in NI – the exponential rise

Aamir Shahzad Muhammad , Nugent Ailish , Hunter Amy , Lewis Anthony , Loughrey Ben , Ahmed Doua , Casey Geraldine , McHenry Claire , Courtney Hamish , Wallace Helen , Wallace Ian , Lindsay John , Darrat Milad , Johnston Philip , Haq Rizwan , D'Arcy Robert , Kamalarajah Sri , Hunter Steven , White Steven , Graham Una , McNabb Bernadette , McElwaine Fred , McMullan Paul , Harper Roy , Elhassan Samah , Shakeel Majeed Muhammad , Mustafa Shaikh Ghulam , Neely Andrew , Todd Anna , Sandhu Farooq , Smyth Jayna , Bradley Una , McConnell Mae , Kennedy Adele , Hameed Ali , Hamill Connor , Rooney Des , McKeever Edward , McCracken Emma , Black Neil , Kelly Rhys , Cartmill Barry , Bonanos Efstathios , Gordon Aileen , Woodside Jayne , Mullan Karen

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 ...