Endocrine Abstracts

A 40-year-old gentleman was referred with sudden onset discomfort in the neck associated with the development of a lump. Earlier that morning he had carried out breathing exercise known as surya krishna at 0600 h and noticed the lump 3 h later whilst shaving. Thyroid USS showed a right-sided thyroid cyst, aspiration of which yielded haemorrhagic contents. FNA of the solid component of the wall did not reveal any malignant cells. The fluid re-accumulated with pressure symptoms ...

Germline mutations account for hereditary phaeochromocytoma (PCC) and paraganglioma (PGL) syndromes. SDHB immunostaining can be used to functionally characterise SDH status on PCC and PGL tumours. Genetic testing of multiple candidate genes is increasingly performed in patients presenting with PCC/PGL tumours. We investigated the effectiveness of SDHB immunostaining as an initial screening tool in identifying SDH mutations.This was a retrospecti...

75% of patients presenting with a phaeochromocytoma (PCC) or paraganglioma (PGL) have no relevant family history, but a germline pathogenic variant is identified in 30–40%. In our genetic endocrine clinic, over 80% of patients with malignant PCC or PGL have SDHA/SDHB/SDHC/SDHD/MAX or FH pathogenic variants identified, confirming high heritability in severe disease.We describe a series of seven patients from fiv...

75% of patients presenting with a phaeochromocytoma (PCC) or paraganglioma (PGL) have no relevant family history, but a germline pathogenic variant is identified in 30–40%. In our genetic endocrine clinic, over 80% of patients with malignant PCC or PGL have SDHA/SDHB/SDHC/SDHD/MAX or FH pathogenic variants identified, confirming high heritability in severe disease.We describe a series of seven patients from fiv...

Primary hyperparathyroidism is a common endocrine condition; 80% due to a parathyroid adenoma. We present an unusual case of a 69-year old white European female, who presented first in 2012 with mild hypercalcaemia (< 2.8 mmol/l), osteoporosis, hypertension and type 2 diabetes. Pharmacotherapy included Bendroflumethiazide, but no phosphate supplements. Investigations revealed primary hyperparathyroidism and dual-modality scanning showed no evidence of an adenoma, although ...

Background: Absence of effective clinical indicators for thyroid cancer, which has an excellent prognosis, means community ultrasounds (US) can be important in identifying risk. Where cytology is definitive it should be reviewed by appropriate MDT specialists. This study aimed to examine the outcomes from two-week-wait (2WW) referrals.Methods: To achieve these aims, we retrospectively reviewed 293 patients referred on th...