Endocrine Abstracts

A 14 year old girl presented with a two week history of painful throat and ears after having been previously treated with a course of antibiotics. She also complained of neck swelling and on further questioning admitted to increasing sweating and weight loss.On examination she had pyrexia of 38.9  °C and a tachycardia. A postural tremor was elicited and an enlarged, smooth, tender goitre. Initial laboratory investigations were fT4 56.2 and TSH ...

Bardet-Biedl affects 1/100,000 people. Biallelic loss of function pathogenic variants in over 26 genes may be due to autosomal recessive inheritance. Diagnosis is clinical, with genetic testing confirmation. Presenting features include retinal cone-rod dystrophy, obesity, polydactyly, cognitive impairment, hypogonadism, genitourinary abnormalities, monogenic diabetes, hypothyroidism, polycystic ovarian and metabolic syndrome. We present a rare case of Bardet-Biedl type 3, with...

Hyperparathyroidism-jaw tumour syndrome (HPT-JT) is a rare autosomal dominant condition characterized by primary hyperparathyroidism (<90%) as a result of parathyroid adenoma or carcinoma (10–15%), ossifying fibromas of mandible and maxilla (30–40%), renal lesions (20%) most commonly cysts and benign and malignant uterine tumours and caused by germline CDC73 pathogenic gene mutations. Currently only 200 cases reported in medical literature. His management has pro...

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 ...