Endocrine Abstracts

Introduction: We report a case of a 72-year-old man who was incidentally discovered to harbour a large right adrenal mass during evaluation for resistant hypertension and subsequently diagnosed with an androstenedione and oestrogen secreting adrenocortical tumour.Case report: A 72-year-old gentleman presented with unilateral gynecomastia which was previously investigated with a mammogram and biopsy (normal) to rule out breast cancer. Two years later, he ...

Introduction: In pregnancy, pheochromocytoma is an extremely rare clinical condition. If undiagnosed and nontreated, it’s associated with adverse maternal-fetal outcomes. An early diagnosis and the prevention of a hypertensive crisis during delivery and surgical treatment are of the utmost importance in the management of a pheochromocytoma during pregnancy. Case report: We report the case of a 41-year-old female diagnosed with pheochromocytoma durin...

Context: Medical data sharing is central for clinical research. Physicians have always shared data for multicentric retrospective studies. However, in the current framework, clinical data exchange requires a complex set-up, featuring interoperability, security, ethical and legal compliance. Objectives: To ask adrenal tumor researchers and clinicians from the European network for study on adrenal tumors (ENSAT) about the landscape of data management and s...

Objective: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is the most common cause of Cushing’s syndrome with bilateral adrenal origin. Pathogenic variants of ARMC5 and KDM1A tumor suppressor genes are causing around 25% of isolated PBMAH cases and variants of PDE11A gene, are frequently associated with the disease, but causality has not been formally established. Methods: The leukocyte DNA of 354 index cases of PBMAH, from 8 European, A...

Introduction: Somatostatin receptor (SSTR)-targeted PET/CT is widely used for diagnosing and monitoring pheochromocytoma and paraganglioma (PPGLs). This study aims to evaluate the potential of the novel SSTR-targeted tracer [18F]-SiTATE in diagnosing PPGLs by comparing imaging parameters with tumor marker levels and secretory activity in a small cohort of patients diagnosed with PPGL. Methods: All patients with histologically confirmed PPGL who presented...

Introduction: Despite advancements in the treatment of adrenocortical carcinoma (ACC), the prognosis for metastatic disease remains poor. This study aims to identify prognostic factors for survival in patients with metastatic ACC.Materials and Methods: This retrospective study included 23 patients with metastatic ACC treated between 2012 and 2023. The main outcomes were overall survival (OS), progression free survival (PFS) and disease specific survival ...

Introduction: Adrenocortical carcinoma (ACC) is a rare malignancy with estimated annual incidence of 0,7 to 2 cases per milion, and it is more commonly diagnosed in women. Being extremely agressive entity, survival median of four years is not suprising. Hormone secreting ACC is found in 60% of patients diagnosed with disease, whereas isolated hyperandrogenism is found in 3-5% cases of adult patients. Case presentation: We present the case of 63-year-old ...

Introduction: Adrenocortical carcinoma (ACC) is a rare endocrine malignancy with poor prognosis despite diagnostic and therapeutic advances. Tailoring personalized management strategies of ACC in low and middle income countries is hindered by data scarcity. This study aims to specify clinico-biological presentation and therapeutic outcomes of patients with ACC in the context of a developing country.Methods: We reviewed demographic, clinical, pathology an...

Introduction: Multiple endocrine neoplasia–type 1 (MEN1) is an autosomal dominant cancer syndrome characterized by tumors in at least two of the following: parathyroid, endocrine pancreas, and anterior pituitary. MEN1 mutations may exhibit gonosomal mosaicism— a combination of somatic and germ-line tissue mosaicism. We present a family with gonosomal mosaicism in MEN1.Case Presentation: A 43-year-old man presented with sudden neck enlargement, ...

Introduction: Neuroendocrine neoplasms (NENs) are relatively rare, with an incidence of approximately 0.5 per 100,000 people. This study aims to explore the prevalence of secondary neoplasms in patients diagnosed with sporadic NENs. Methods: We retrospectively analyzed clinical and histological data from patients treated at our NEN clinic between 2020 and 2023. Patients with known genetic syndromes were excluded from the study. Res...

Introduction: Triple A syndrome is a rare multisystem autosomal recessive condition, with a classical triad of Alacrimia, achalasia, and adrenal insufficiency. We describe our patient’s clinical and genetic profile, highlighting the often-missed diagnosis due to its staggered presentation.Case presentation: A 22-year-old male, with history of Adrenal insufficiency diagnosed at age 3 and maintained on Glucocorticoid replacement presented to our emerg...

Introduction: Ovarian dermoid cysts, also known as mature cystic teratomas (MCTs), account for 69% of ovarian embryonal cell tumors in young women. It is a rare type of embryonic cell tumor that can contain immature but also fully formed tissue, including teeth, hair, bones and muscles. Ganglioneuroma is a benign neurogenic tumor. These tumors originate from the neuroepithelium along the sympathetic ganglia. The main localization is the mediastinum.Case ...

Osilodrostat as an inhibitor of adrenal 11B-hydroxylas, is an effective medication used in the management of endogenous hypercortisolism. There are limited data regarding usage of osilodrostat in adolescent patients. Case presents a 16-year-old female who was admitted to Endocrinology Department due to suspicion of Cushing Syndrome. Patient’s medical history was significant for newly diagnosed hypertension, diabetes mellitus type 2, menstrual irregularities, insomnia for ...

Introduction: Major advances have been made in understanding the pathophysiology of primary aldosteronism (PA). A breakthrough was the identification of mutations in the potassium channel KCNJ5, which drive aldosterone overproduction in aldosterone-producing adenomas and familial hyperaldosteronism type III. Our objective was to identify small molecules that selectively target mutated KCNJ5 channels to broaden the therapeutic strategies for PA.Methods: W...

Introduction: The majority the pheochromocytomas (PCCs) are diagnosed incidentally. The absence of characteristic paroxysmal symptoms does not exclude the diagnosis. The purpose of this study is to evaluate the diagnostic sensitivity of imaging features and biochemical markers in PCCs, providing data to improve clinical decision-making.Methods: The available imaging results, clinical and biochemical data of patients who underwent laparoscopic adrenalecto...

Introduction: Cushing’s syndrome (CS) is a condition characterized by chronic exposure to excess glucocorticoids, mostly due to adrenocorticotropic hormone (ACTH) excess, but in 10–15% due to ACTH-independent cortisol excess. Although CS directly or indirectly affects most organ systems, there can often be a significant diagnostic delay, especially during pregnancy.Case presentation: Twenty-nine-year-old woman complaining about pain in her lowe...

Background: The role of endocrine disrupting chemicals (EDCs) in the development of the metabolic syndrome and its components gained increasing importance in recent years. The underlying mechanisms appear to be multifactorial and are largely unresolved. Disruption of glucocorticoid and mineralocorticoid hormone action is considered a possible mechanism. This systematic review is the first to summarize epidemiological studies investigating an association between EDC concentrati...