Endocrine Abstracts

Background: Congenital Adrenal Hyperplasia (CAH) is a group of inherited disorders affecting adrenal steroidogenesis. The main form, 21-hydroxylase deficiency (21-OHD), results from mutations in the CYP21A2 gene. Patients experience hormone deficiencies, and excessive androgens which lead to various symptoms such as hypoglycemia, salt wasting, virilization, and early puberty. Therapy demands high glucocorticoid doses, causing significant side-effects. While new treatm...

Objective: Patients with adrenal insufficiency (AI) have been found to have increased cardiovascular morbidity, partly associated with nonphysiologic glucocorticoid replacement.Design: We included two separate cohorts (cohort 1 and 2) of patients with chronic primary and secondary AI under standard replacement therapy and compared them to two age- and sex-matched population-based studies (SHIP-TREND/DEGS). Patient cohort 1 comprised 389 individuals asses...

Background: The evaluation of postoperative adrenal insufficiency (PAI) and hypothalamus–pituitary–adrenal (HPA) axis recovery in patients with adrenal incidentaloma (AI) undergoing unilateral adrenalectomy remains limited.Objectives: We aimed to identify predictive factors for PAI development and evaluate HPA axis recovery in AI patients undergoing unilateral adrenalectomy.Methods: We retrospectively analysed adrenal fun...

Background: Constitutional duplications of the PRKACA gene locus have been described as responsible for adrenal Cushing’s disease.The objective here was to evaluate the results of its systematic screening in bilateral adrenal nodular disease and to specify the associated phenotype.Methods: Between 2020 and 2023, 440 consecutive index cases with macronodular or micronodular adrenal hyperplasia or Carney Complex (CNC) w...

Background: Sepsis is a life-threatening inflammatory condition and a leading cause of death in hospitals. It arises when a microbial infection triggers prolonged and uncontrolled systemic inflammation resulting in progressing organ dysfunction. Recent experimental data suggest a possible involvement of ferroptosis – an iron-dependent form of regulated necrosis – in sepsis-mediated damage of many vital organs. However, its role in adrenal gland dysfunction and/or dam...

Background: Adrenal incidentalomas (AI) with mild autonomous cortisol secretion (MACS) are associated with increased morbidity and mortality and constitute a common clinical scenario.Objective: We assessed the outcome of cardiovascular risk factors associated with MACS after adrenalectomy versus conservative management.Methods: Retrospective study performed on a cohort of patients evaluated in our clinic between 2018 and 2022 with ...

Background: Adrenal venous sampling (AVS) is the gold standard diagnostic approach for differentiating unilateral from bilateral primary aldosteronism (PA). However, it is a costly, invasive, and operator-dependent procedure with restricted availability.Objectives: It was aimed to develop a prediction model based on a simple clinical score with prominent parameters from the current literature for the subtype diagnosis of PA. The contribution of adrenal v...

Introduction: Glucocorticoid (GC) replacement regimens in adrenal insufficiency (AI) only roughly correspond to physiological steroid profiles. Moreover, control of substitution quality is difficult and signs of clinically relevant mild chronic over- or under-replacement might be omitted. FKBP5 regulates GC receptor sensitivity by reducing its affinity to cortisol when bound to the receptor complex. FKBP5 methylation has been inversely correlated with cortisol levels both in h...