Endocrine Abstracts

Introduction: Bilateral macronodular adrenal disease (BMAD, former PBMAH) is a rare cause of Cushing’s syndrome. The few morphologic descriptions of BMAD mention multinodular hyperplastic adrenal glands composed of clear spongiocytic cells and fewer compact eosinophilic cells without any morphologic variation. The discovery of ARMC5 and KDM1A mutations argues for genetic heterogeneity. The aim of this work was to describe the morphological and immunohist...

Background: Resection of the adrenal gland is a challenging intervention that requires close endocrinological supervision for the correct assessment of hormones to minimise complications peri-operatively (peri-op) and post-operatively (post-op).Objectives: This study assessed the function of the hypothalamus–pituitary–adrenal axis and the related management according to underlying adrenal disorders.Methods: We reviewed 16...

Background: Multiple endocrine neoplasms (MEN) are a rare hereditary syndrome, caused by an autosomal dominant mutation due to germline mutation in the rearranged during transfection (RET) proto-oncogene. According to the new WHO guidelines, MEN type 2 (formerly known as MEN 2A) is characterised by medullary thyroid cancer (MTC), paragangliomas, primary hyperparathyroidism (PHP) and cutaneous lichen amyloidosis.Objectives: To present the clinical and par...

Introduction: The steroidogenesis inhibitor osilodrostat (OSI), indicated for the medical treatment of endogenous Cushing’s syndrome, exhibits significant interindividual variability regarding the response to treatment (Pivonello et al. 2020). Plasma exposure may contribute to this variability. Our objective was to investigate the effect of concomitant use of mitotane (MIT), a potent inducer of CYP450 (3A4), on circulating OSI concentrations in patients treated f...

Background: Although adrenal vein sampling (AVS) is a technically demanding procedure, it is still considered the gold standard for subtyping primary aldosteronism (PA). The aim of the study was to analyze the success rate of AVS in patients with PA.Methods: In all patients AVS was performed sequentially during continuous stimulation with adrenocorticotrophic hormone by one interventional radiologist. Adrenal vein cannulation was considered successful if...

New possible pathogenic variants involved in pheochromocytomas and paragangliomasIntroduction: Pheochromocytomas and paragangliomas (PPGLs) are rare tumors of the chromaffin tissues that store and release catecholamines in excess. Most pheochromocytomas are sporadic, usually resulting in unilateral adrenal tumor, but 25–45% harbour a germline mutation.Aim: To describe new possible pathogenic variants (VUS) involved in PPGLs.</...

Primary aldosteronism (PA) is a form of endocrine hypertension characterized by autonomous aldosterone secretion. Aldosterone-producing adenomas (APAs) are a significant cause of unilateral PA, where aldosterone overproduction is driven by a somatic mutation in an ion pump or channel. Multiple studies have shown that mutations in the KCNJ5 gene are the most prevalent in PA patients suffering from the unilateral subtype, and unilateral laparoscopic total adrenalectomy ...

Background: The existing consensus for patients with primary aldosteronism (PA) after unilateral adrenalectomy recommends annual follow-up to rule out persistence or recurrence of the disease.Objectives: The aim of the study was to assess the remission rate in patients with PA ≥1 year after adrenalectomy.Methods: Of the 41 patients who underwent adrenalectomy for PA between 2016 and 2021, 24 had available follow-up data and w...

Background: Bilateral micronodular adrenal cortical disease (miBACD) is a rare and difficult-to-manage disease. miBACD is one of the causes of Cushing’s syndrome. miBACD is divided into primary pigmented nodular adrenocortical disease (PPNAD) and isolated micronodular adrenocortical disease. Its more common presentation is familial PPNAD, as part of Carney syndrome. We also presented a rare case of miBACD.Case presentation: A 20-year-old female pati...

Background: Acromegaly is a rare disease, mostly caused by a GH (growth hormone)-secreting pituitary adenoma. The pathomechanism of bone complications remains not fully explored. The fibroblast growth factor-23 (FGF-23)/Klotho axis regulates phosphate and vitamin D metabolism.Objectives: The study aimed primarily at evaluating FGF-23 and Klotho concentrations with regard to acromegaly activity. The secondary goal was to identify associations between FGF-...