Searchable abstracts of presentations at key conferences in endocrinology

ea0063p81 | Calcium and Bone 1 | ECE2019

A rare case of hypoparathyroidism due to MELAS syndrome

Grebennikova Tatiana , Zenkova Tatjana , Tarbaeva Natalia , Sorkina Ekaterina , Belaya Zhanna

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...

ea0056p172 | Bone ' Osteoporosis | ECE2018

Effects of acromegaly on plasma microRNA levels relevant to bone metabolism.

Grebennikova Tatiana , Belaya Zhanna , Nikitin Alexey , Solodovnikov Alexander , Melnichenko Galina

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...

ea0063p74 | Calcium and Bone 1 | ECE2019

Multiple fragility fractures in young female patients caused by FGF23-induced hypophoshatemic osteomalacia

Grebennikova Tatiana , Slashchuk Konstantin , Tarbaeva Natalia , Rozhinskaya Liudmila , Rodionova Svetlana , Melnichenko Galina , Rumjantsev Pavel , Belaya Zhanna

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 ...

ea0049ep220 | Bone & Osteoporosis | ECE2017

Effects of acromegaly on bone tissue mRNA levels relevant to bone metabolism

Grebennikova Tatiana , Belaya Zhanna , Melnichenko Galina , Brovkina Olga , Nikitin Alexey , Astaf'eva Ludmila , Grigoriev Andrej , Dedov Ivan

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...

ea0070aep181 | Bone and Calcium | ECE2020

Clinical presentations of patients receiving PTH-therapy among the referral population with hypoparathyroidism.

Gronskaia Sofia , Grebennikova Tatiana , Pigarova Ekaterina , Rozhinskaya Luidmila , Melnichenko Galina , Luiza Brandi Maria , Belaya Zhanna

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...

ea0070aep227 | Bone and Calcium | ECE2020

Osteogenesis imperfecta type V due to a rare mutation c.119C> T in the IFITM5: A case report

Grebennikova Tatiana , Gavrilova Alina , Tiulpakov Anatoly , Tarbaeva Natalia , Melnichenko Galina , Belaya Zhanna

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...

ea0041ep341 | Clinical case reports - Thyroid/Others | ECE2016

Multiple endocrine disorders in Werner syndrome

Sorkina Ekaterina , Grebennikova Tatiana , Belaia Janna , Rozhinskaia Ludmila , Koksharova Ekaterina , Mayorov Alexandr , Galstyan Gagik , Shestakova Marina , Melnichenko Galina , Tiulpakov Anatoly

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 ...

ea0073pep8.7 | Presented ePosters 8: Pituitary and Neuroendocrinology | ECE2021

Russian hypothalamic and pituitary tumor registry (OGGO): current results

Lutsenko Alexander , Przhiyalkovskaya Elena , Belaya Zhanna , Vikulova Olga , Pigarova Ekaterina , Zenkova Tatiana , Mamedova Elizaveta , Grebennikova Tatiana , Dzeranova Larisa , Rozhinskaya Liudmila , Marova Evgenia

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...