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...

ea0037ep1282 | Clinical Cases–Thyroid/Other | ECE2015

Gynaecomastia in a patient with von Recklinghausen's disease (neurofibromatosis type 1)

Sorkina Ekaterina , Machekhina Liubov , Asanov Aliy , Makhinov Konstantin

Introduction: Neurofibromatosis type 1 (NF1), also known as von RecklinghausenÂ’s disease, is the most common type of NF and one of the most frequent human genetic diseases. Gynaecomastia due to pseudoangiomatous stromal hyperplasia (PASH) in patients with NF1 is quite a rare complication but still it should be differentiated from gynecomastia caused by other conditions.Clinical case: A 30-year-old man, previously diagnosed with NF1 at the age of 19,...

ea0035p302 | Clinical case reports Thyroid/Others | ECE2014

An unusual case of diabetes mellitus as a result of heterozygous missense mutation R482W in LMNA gene (familial partial lipodystrophy type 2), described for the first time in Russian population

Sorkina Ekaterina , Tiulpakov Anatoly , Kalashnikova Marina , Melnichenko Galina

Background: Familial partial lipodystrophy type 2 (Dunnigan syndrome and FPLD2) is a rare genetic disorder, associated with different metabolic abnormalities, especially insulin resistant diabetes mellitus, dyslipidaemia, hepatic steatosis, and cirrhosis, cardiovascular disease, and cardiomyopathy, kidney disease.Clinical case: A 20-year-old patient first presented with changed appearance due to abnormal subcutaneous fat tissue redistribution (lipodystro...

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 ...

ea0057021 | Cardiovascular complications in pituitary gigantism (results of an international study) | BES2018

Cardiovascular complications in pituitary gigantism (results of an international study)

Liliya Rostomyan , Adrian Daly , Nalini Shah , Luciana A Naves , Anne Barlier , Marie-Lise Jaffrain-Rea , Philippe Emy , Sebastian Neggers , Lecumberri Santamaria Beatriz , Ian Holdaway , Thierry Brue , Gunter Stalla , Roberto Salvatori , Yves Bertherat Jerome , Dominique Maiter , Margaret Zacharin , Anurag Lila , Silvia Filipponi , Satinath Mukhopadhyay , Tapani Ebeling , Marja Ojaniemi , I McCormack Ann , Outi Kuismin , Anne-Lise Lecoq , Mona Sahnoun-Fathallah , Caroline Jung-Sievers , Elena Malchiodi , Liudmila Rozhinskaya , Elena Nazzari , Sachin Mittal , Elisa Verrua , Ekaterina Sorkina , Alexander Dreval , France Devuyst , Ismene Bilbao , Simona Auriemma Renata , Palacios Garcia Nuria , Irena Ilovaiskaya , Vyacheslav Pronin , Annamaria Colao , Diego Ferone , Anna Spada , Patrick Petrossians , Paolo Beck-Peccoz , A Stratakis Constantine , Philippe Chanson , Albert Beckers

Background: Cardiovascular disease is an important cause of morbidity/mortality in chronic GH hypersecretion.Aim: To evaluate cardiovascular system in a large series of patients with pituitary gigantism. Standard case report forms were used with height assessments related to local country norms. Results: 151pts (123 male) with GH-excess and abnormal growth velocity for age or final height >2SD over local norms had complete data on cardiac assessments...