Endocrine Abstracts

Introduction: ACTH-independent macronodular adrenal hyperplasia (AIMAH) is often an incidental finding, but may be diagnosed in patients with Cushing’s syndrome. We have recently identified germline mutations in the armadillo repeat containing 5 gene (ARMC5) in AIMAH patients, associated with somatic second hits specific of each AIMAH nodule ( Assié et al, NEJM, 2013). The aim is to characterize the prevalence of ARMC5 mutations in AIMAH patients and the gen...

Background: It is well established that life-long follow-up is required for patients with hereditary pheochromocytomas and paragangliomas (PPGLs), due to the potential of developing recurrent disease. However, whether follow-up of patients with sporadic PPGLs is necessary, remains unclear.Aims: To examine the prevalence and predictors of recurrent disease in patients with sporadic PPGLs.Materials and method: This multicenter study included retrospective ...

Polycystic ovary syndrome (PCOS) is the most common endocrine and metabolic disorder affecting women in reproductive age. Women with PCOS exhibit 2-3x higher levels of circulating Anti-Müllerian Hormone (AMH) as compared to healthy women and it is unclear if the elevation of AMH is a bystander effect or is driving the condition. Moreover, PCOS has a strong heritable component, however the etiopathology of the disease and the mechanisms underlying its transmission remain t...

Adrenal insufficiency (AI) is characterised by lack of cortisol production from the adrenal glands which is treated with replacement doses of hydrocortisone. At times of physiological stress there is an increased requirement for exogenous glucocorticoids, which if untreated can lead to an adrenal crisis. Currently there are no unified guidelines for those <18 years old in the UK; this can lead to a substantial variation in the management of AI in both an emergency and peri...

Background: Primary adrenal insufficiency (PAI) has been associated with increased risk of infection, adrenal crises and a higher mortality rate. This is caused by altered circadian cortisol profiles, which ultimately lead to immune cell dysregulation. In this study, we aim to characterize differences in immunophenotype of PAI patients of three different etiologies.Methods: Cross-sectional single center study including 28 patients with congenital adrenal...

Objective: Adrenal venous sampling (AVS) is the gold standard method to assess lateralization of aldosterone secretion in patients with primary aldosteronism (PA). The selectivity index (SIcortisol, the adrenal to peripheral vein ratio of cortisol concentrations) determines correct catheter positioning during AVS. The lateralization index (LIcortisol, the aldosterone to cortisol ratios between adrenal veins) distinguishes unilateral aldosterone producing ...

Introduction: The Carney Complex is a multiple endocrine and non endocrine neoplasia mostly due to PRKAR1A mutations. Spectrum of manifestations and genotype-phenotype correlations have been previously described by retrospective studies. A prospective study evaluating the occurrence of the different manifestations was needed to precise the optimum follow-up.Methods: Multi-center national prospective study (Clinical Trials NCT00668291) including 70 patien...

Introduction: Germline inactivating mutations of the protein kinase A (PKA) regulatory subunit RIα (the PRKAR1A gene) cause primary pigmented nodular adrenocortical disease (PPNAD); other cyclic AMP (cAMP) signalling defects have been associated with bilateral adrenocortical hyperplasia (BAH), cortisol-producing adenoma (CPA) and related lesions. Recently, PRKACA somatic mutations were detected in single, sporadic CPAs in approximately 40% of patients wi...

Benign adrenal tumors correspond to a spectrum of distinct tumors, including uni- and bilateral diseases with distinct morphological features, and various steroid hormone secretion types and levels. The aim is to study this variability at the molecular level using pan-genomic approaches.Methods: One hundred and forty six benign adrenal tumors, including adrenocortical adenomas (ACA, N=), primary macronodular adrenal hyperplasia (PMAH, N=), and primary pi...

Introduction: Oral once-daily dual-release hydrocortisone (DR-HC) therapy provides a more physiological cortisol profile than conventional thrice-daily (TID) replacement therapy and has demonstrated improved metabolic profile among patients with adrenal insufficiency (AI). The mechanisms by which this metabolic improvement occurs may be due to less total exposure, changed cortisol time exposure profile, but also modified metabolism of cortisol.Objective:...