Endocrine Abstracts

Background: Management of CAH involves replacing cortisol deficiency and reducing raised adrenal androgens, however the supraphysiological glucocorticoid doses often required to treat hyperandrogenism are associated with poor long-term health outcomes. Modified-release hydrocortisone (MRHC) capsules, Efmody, replicate cortisol diurnal rhythm and improve control of CAH compared to standard glucocorticoid therapy. Here we report changes in glucocorticoid daily dose and 9am 17-hy...

Adrenal tumours are frequently detected by conventional cross-sectional imaging, which, however, has limited specificity in identifying the most prevalent tumour type, benign, non-functional adrenocortical adenomas (ACA) not requiring surgery. We assessed the diagnostic accuracy of adrenal molecular imaging with [18F]Fluorodeoxyglucose-positron emission tomography (FDG-PET) and [123I]Iodometomidate-single photon emission tomography (IMTO-SPECT). We perfor...

Background: Recently, we have shown that ambulatory 24-hour dynamic steroid profiling using the newly developed U-RHYTHM system is possible and presented the circadian and ultradian rhythmicity of adrenal hormones in a healthy cohort. With U-RHYTHM, multiple hormones can be sampled simultaneously, and the free active hormones can be measured in local tissue where the effect is exerted. Thus the hormone fingerprint resulting from replacement therapy in individual patients can b...

Background: Current glucocorticoid replacement regimens for patients with primary adrenal insufficiency (PAI) mean patients wake with either low or undetectable cortisol levels1, associated with fatigue and a reduced quality of life (QoL)2. Plenadren® (Takeda, UK) is a once-daily modified-release formulation of hydrocortisone that replaces daytime cortisol levels whereas Chronocort® (modified-release hydrocortisone hard capsules, Diurnal, UK) wh...

Background: Confirmation of primary aldosteronism (PA) with the saline infusion test (SIT) requires accurate measurements of plasma aldosterone, best achieved by mass spectrometry. Performance of the test and appropriate cut-offs remain inadequately defined.Design and methods: This prospective multicenter cohort study involved 451 patients with suspected PA who underwent a seated SIT. Among these, there were 90 and 76 in whom PA was respectively confirmed and excluded based on...

Background: DNA mismatch repair (MMR) maintains genomic integrity and stability. Inactivation of the MMR genes MLH1, PMS2, MSH2, and MSH6 by somatic or germline variants or gene methylation causes MMR deficiency (dMMR) leading to microsatellite instability (MSI) and high tumour mutational burden. In many tumour entities, patients with dMMR/MSI respond well to immune checkpoint inhibitor (ICI) therapy. The clinical relevance of dMMR and MSI i...

Introduction: It is known that phaeochromocytoma penetrance in MEN2A syndrome steadily increases with age. In general, MEN2A related pheochromocytomas (PHEOs) have a benign evolution; however, some of them have an aggressive behaviour despite the same genetic background as the benign forms.Aim: To evaluate potential factors that may influence PHEO penetrance and tumor dimensions (age at diagnosis, MTC aggressiveness or genetic status).<p class="abste...