Endocrine Abstracts

A 20-year-old man with a 5-year history of poorly controlled type 1 diabetes presented with epigastric pain, bloating and weight loss. He had attended DAFNE recently and had been commenced on an insulin Pump resulting in improvement of HbA1C from 114 to 76 mmol/mol over a 4-month period. Blood pressure was elevated (157/108 mmHg) with a resting tachycardia of 110. Haemoglobin was elevated at 18.7 g/dl. 24 h blood pressure monitoring revealed an average diastolic blood pressure...

Background: Neurofibromatosis type 1 (NF1) related Phaeochromocytoma is a rare endocrine disorder and diagnosis is frequently delayed. NF1 is frequently associated with gastro-intestinal stromal tumour but also reported with adenocarcinoma (rare genetic MLH1 mutation). We presented a case where diagnosis of phaeochromocytoma was delayed 5 years after initial symptoms and only incidentally found on scanning at the time of his presentation with colonic...

Background: Neurofibromatosis type 1 (NF1) related Phaeochromocytoma is a rare endocrine disorder and diagnosis is frequently delayed. NF1 is frequently associated with gastro-intestinal stromal tumour but also reported with adenocarcinoma (rare genetic MLH1 mutation). We presented a case where diagnosis of phaeochromocytoma was delayed 5 years after initial symptoms and only incidentally found on scanning at the time of his presentation with colonic...

Hypomorphic CYP24A1 protein coding mutations causing inappropriate 1,25(OH)2D concentrations are associated with idiopathic infantile hypercalcemia and adult-onset hypercalciuria and nephrolithiasis. It is unclear why some cases present with CYP24A1-mediated abnormal calcium handling lack protein-coding CYP24A1 mutations. Non-coding region mutations, e.g. the 3’ UTR, impacting messenger RNA (mRNA) structure have rarely been studied in...