Endocrine Abstracts

Introduction: Multiple endocrine neoplasia type 1 (MEN 1) is a rare, autosomal dominant disease caused by mutations in the MEN1 gene. The syndrome predisposes an individual to the development of primary hyperparathyroidism (PHPT), gastroenteropancreatic neuroendocrine tumors (GEP-NETs), pituitary adenomas (PA), as well as other endocrine and non-endocrine tumors that usually manifest at a young age. If a patient with the MEN 1 phenotype does not carry m...

Molecular basis of the bone disorders in patients with acromegaly are largely unknown.Objective: To investigate microRNAs (miRNA) expression profiles that regulate bone metabolism in plasma samples from patients with acromegaly.Materials and methods: Fasting plasma samples were taken from consecutive subjects with biochemically confirmed active acromegaly and healthy volunteers matched by age, sex and BMI. IGF1 was measured by an e...

Background: Bone tissue is a non-classical endocrine organ, which controls phosphate metabolism through production of fibroblast growth factor 23 (FGF-23) mainly by osteocytes. Recent studies have demonstrated that specific proteins involved in paracrine regulation of bone remodeling can be measured in serum samples and may be involved in human metabolism.Aims: To evaluate serum biomarkers related to endocrine and paracrine function of bone tissue in pat...

Objective: To analyze long-term treatment outcomes and to determine prognostic factors affecting the survival of patients with ECS. Matherials and methods: Retrospective, observational study on 147 patients (88 women, 59 men) with ECS diagnosed between 1990 and 2021. Various imaging studies were performed on all patients to find the source of ACTH producing neuroendocrine tumor (NET). Multivariable analysis was performed using a Cox proportional hazards ...

Background: Surgical outcomes in patients with acromegaly are highly dependent on a surgeon’s level of expertise, as the majority of patients present with macroadenomas at diagnosis.Aim: To assess remission rates in patients with acromegaly admitted to a tertiary medical center.Materials and methods: We included patients admitted to the neuroendocrinology and bone disease department with no previous radiation therapy or curren...

Background: Nelson syndrome is a rare complication of Cushing disease (CD), which occurs either in patients with very aggressive CD or as a result of misdiagnosis. Clinical characterization of patients with Nelson syndrome could provide important insights in management of the disorder.Methods: We analyzed medical records of patients with CD between 2015 and 2021 to identify those who developed Nelson syndrome.Results: Nine patients...

Introduction: ADH-deficiency (central diabetes insipidus, ADH-D) is a rare disease, and data on worldwide and country-specific prevalence rates are scarce. ADH-D registries could provide valuable information on epidemiology, etiological distribution, treatment requirements and potentially serve as a guide for management decisions in clinical practice.Objectives: To assess the epidemiological data on ADH-D in Russian Registry for Central Diabetes Insipidu...

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome of abnormal phosphate metabolism caused by a small mesenchymal tumor that secrete fibroblast growth factor 23 (FGF23). A 29-year-old female has suffered from two low-traumatic hip fractures, multiple fractures at the pelvic and sacrum, and diffuse bone pain for more than 3 years. Her mobility was limited in the last year (used crutches) because she had severe muscle weakness. Laboratory examination at the time ...

Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of Cushing syndrome and in 25–55% of cases is caused by mutations in ARMC5 gene. A 37 y.o. female was referred to our center with a diagnosis of ACTH-independent Cushing syndrome. Laboratory testing confirmed endogenous hypercortisolism (urinary free cortisol 5063.5 nmol/24 h (60–413), midnight salivary cortisol 56.6 nmol/l (0.5–9.4), midnight serum cortisol 1427 nmol/l (46–...

Molecular basis of the bone disorders in patients with acromegaly are largely unknown.Objective: To investigate gene expression profiles that regulate bone metabolism in bone tissue samples from patients with acromegaly.Materials and Methods: Patients with clinically evident and biochemically proven active acromegaly and patients with hormonally inactive pituitary adenoma matched by age, sex and BMI were invited to participate. Bon...