Endocrine Abstracts

MELAS syndrome is a progressive neurodegenerative disorder characterized by a combination of mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes and endocrine disorders. The frequency of hypoparathyroidism in MELAS syndrome is less than 0.5%. A 22-year-old female was admitted to our center due to episodes of seizures. At admission her height was 147.5 cm, weight 30.5 kg, BMI 13.8 kg/m2. She reported whole life weight and growth retardation, hearin...

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...

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 ...

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...

This study aims to evaluate patients who require PTH-treatment among the referral population with hypoparathyroidism.Methods: The information was collected from the registry database of chronic hypoparathyroidism, which was initiated by the National Medical Research Centre for Endocrinology (NMRCE).Results: Among 194 cases of hypoparathyroidism referred to our clinic over 2 years (2017–2019), eig...

Osteogenesis imperfecta (OI) is a heritable skeletal disorder caused by defective bone formation. OI type V (MIM#:614757) develops due to mutation in the IFITM. Mutation c.-14C >T in the IFITM5 is more common whereas only five reported patientshave a c.119C >T mutation. Patients with IFITM5:c.119C >T mutation usually have low-traumatic fractures in the prenatal period of development, severe limb and chest deformities, short height, verteb...

Background: Werner syndrome is a rare autosomal recessive disease caused by a mutation of the DNA helicase gene (WRN), characterized by the premature onset of multiple age-related disorders.Objective: To describe unusual multiple endocrine and metabolic disorders in three unrelated clinical cases of Werner syndrome.Methods: Three patients with obvious clinical features of premature ageing were referred to an endocrinologist due to ...

BackgroundPituitary disease registries are major instruments of epidemiological and clinical data collection used worldwide.ObjectiveTo assess the data of pituitary tumor registry in Russia.Material and methodsPatient records, retrieved from online platform of the Registry.ResultsCurrently there are 9858 patients regis...