Endocrine Abstracts

Introduction: Chromogranin-A (CgA) is a 49 kDa protein of the granin/secretogranin family originating from dense-core secretory granules within cells of the diffuse endocrine system. CgA is currently the best available diagnostic biomarker for neuroendocrine tumours (NETs) with recent clinical guidelines advocating the measurement of CgA as part of the baseline biochemical profile in patients presenting with symptoms suspicious of a gastroenteropancreatic NET.<p class="abs...

The accurate measurement of cortisol by immunoassay is compromised by the potential for cross-reactivity of reagent antibodies with structurally-related steroid compounds present in patient serum. This susceptibility is potentiated when normal steroid metabolism is altered pharmacologically by anti-steroidogenic drugs. This class of drug is utilised in the management of Cushing’s syndrome to moderate cortisol production. To investigate the effect of the 11β-hydroxyla...

Adrenal insufficiency (AI) is life-threatening and can present alone or in combination with other co-morbidities. Here we describe families with a novel association of AI with porphyria caused by biallelic mutations in protoporphyrinogen oxidase (PPOX) or coproporphyrinogen oxidase (CPOX). The porphyrias are a group of disorders caused by defects in one of eight enzymes within the haem biosynthetic pathway, divided into acute porphyrias, resulting in mainly n...

Adrenal insufficiency (AI) is life-threatening and can present alone or in combination with other co-morbidities. Acute porphyria attacks can also be serious, resulting in permanent disability or death and symptoms can be similar to AI. Previous literature describing hormonal perturbations in porphyria suggest an association between the two conditions. We were referred a family with 4 individuals with porphyria and AI, the clinical picture included global developmental delay, ...