Endocrine Abstracts

Introduction: Loss of protective sensation, inflammation and trauma may lead in predisposed diabetics with peripheral neuropathy to Charcot foot.Methods: Regular foot screening enables identification of those individuals who are at highest risk for foot ulceration. Special attention must be paid to infection. Differentiation between osteomyelitis and Charcot arthropathy is mandatory, the two conditions may coexist. Basic conservative treatment for Charco...

Introduction: Late-night salivary cortisol assessment is an important element when investigating suspected Cushing’s syndrome (CS). The goal of medical therapy is achieving a mean (of 5 samples during a single day) serum cortisol (serumF) of 150–300 nmol/l (Cushing Day Curve [CDC]). Metyrapone is an 11β-hydroxylase inhibitor elevating levels of 11-deoxycortisol causing conventional immunoassay (IA) to overestimate SerumF; a problem obviated by LC–MS/MS. We ...

Background: Phaeochromocytomas & paragangliomas (PPGL) are rare neuroendocrine tumours presenting with symptoms of sympathetic overactivity, hypertension, or as adrenal incidentalomas.Study and results: A 24-year retrospective review of a U.K. single-centre PPGL service (2009 -2023) identified 61 cases (53 phaeochromocytomas/8 paragangliomas). Among these, 35 (57%) were females. Mean age of diagnosis was 56.35±16....

3-M syndrome is an autosomal recessive primordial growth disorder characterized by pre- and post-natal growth restriction, facial dysmorphism and radiological abnormalities. Mutations in the gene CUL7 have been previously shown to cause 3-M syndrome. CUL7 is a member of the cullin family of E3 ubiquitin ligases involved in targeted protein degradation.We identified a large cohort of 3-M syndrome patients who did not carry CUL7 mutations but...