Searchable abstracts of presentations at key conferences in endocrinology

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...

ea0022p452 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Cushing’s disease as the first manifestation of familial multiple endocrine neoplasia syndrome type 1

Rostomyan Liliya , Mokrysheva Natalya , Tiulpakov Anatoly , Rozhinskaya Ludmila

MEN1 syndrome is an autosomal dominant inherited disease characterised by primary hyperparathyroidism in association with endocrine enteropancratic tumors and anterior pituitary adenomas. Tumours of the pituitary gland as the first manifestations of MEN1 are very rare in children.Clinical case report: A 13-year-old boy presented with clinical signs suggestive of Cushing’s syndrome. He had decreased growth rate, muscle weakness, headaches and truncal...

ea0016p355 | Growth and development | ECE2008

Health-related quality of life in constitutionally tall children and adolescents

Melnitchenko Galina , Koloda Dmitry , Pronin Vyacheslav , Tiulpakov Anatoly

Objective: To evaluate the health-related quality of life (HRQoL) in children and adolescents with constitutional tall stature (CTS).Materials and methods: Sixty-two patients (20 males and 42 females) with CTS aged 9.3–16.4 years (12.9±2.4 years, mean±S.D.) were enrolled in this study. Sixty-eight normal subjects (24 males and 44 females) aged 9.8–16.2 years (13.1±2.1 years) served as controls. The evaluation of th...

ea0063ep6 | Adrenal and Neuroendocrine Tumours | ECE2019

A case of Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia caused by ARMC5 mutation and concomitant primary hyperparathyroidism

Mamedova Elizaveta , Vasilyev Evgeny , Petrov Vasily , Izmailova Natalya , Buryakina Svetlana , Rozhinskaya Liudmila , Tiulpakov Anatoly , Belaya Zhanna

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–...

ea0049ep346 | Endocrine tumours and neoplasia | ECE2017

Multiple endocrine neoplasia type 1 phenocopies: role of the genes associated with familial primary hyperparathyroidism

Mamedova Elizaveta , Mokrysheva Natalya , Vasilyev Evgeny , Petrov Vasily , Belaya Zhanna , Rozhinskaya Liudmila , Tiulpakov Anatoly

Introduction: The genetic causes of development of multiple endocrine neoplasia type 1 (MEN-1) phenocopies remain largely unknown.Aim of the study: To evaluate the role of genes associated with familial primary hyperparathyroidism (PHPT) in the development of MEN-1 phenocopies with the combination of PHPT and pituitary adenomas (PA).Materials and methods: 20 patients (19 females and 1 male) were included in the study. All patients ...

ea0041ep625 | Endocrine tumours and neoplasia | ECE2016

Four cases of hyperparathyroidism-jaw tumor syndrome in young patients with primary hyperparathyroidism in Russia

Mamedova Elizaveta , Mokrysheva Natalya , Pigarova Ekaterina , Voronkova Iya , Vasilyev Evgeny , Petrov Vasily , Rozhinskaya Liudmila , Tiulpakov Anatoly

Introduction: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a rare autosomal-dominant disorder caused by mutations in CDC73 tumor suppressor gene. To date about 80 mutations in CDC73 have been described.Case reports: Four patients among a cohort of young patients (<40 y.o.) with primary hyperparathyroidism (PHPT) underwent next-generation sequencing (NGS) (Ion TorrentTM PGMTM, Thermo Fisher Scientific&#150...

ea0037ep689 | Pituitary: basic and neuroendocrinology | ECE2015

Gene panel study for familial pituitary adenoma

Borodich Tatiana , Pigarova Ekaterina , Przhiyalkovskaya Elena , Dzeranova Larisa , Rozhinskaya Liudmila , Vasilyev Evgeny , Tiulpakov Anatoly , Dedov Ivan

Introduction: Several genetic syndromes are associated with familial pituitary adenomas. The penetrance of clinical manifestations of these syndromes is not ubiquitous and this might be the reason for the lack of detection of genetic mutations when only one or few genes are studied.Aim: Clinical characterisation and molecular genetic study of a panel with ten genes involved in formation of pituitary adenomas in familial setting.Mat...

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...

ea0032p527 | Endocrine tumours and neoplasia | ECE2013

The clinical characteristics of primary hyperparathyroidism (PHPT) in patients with multiple endocrine neoplasia (MEN) type 1

Rostomyan Liliya , Mokrysheva Nataliya , Tiulpakov Anatoly , Artemova Alla , Kirdyankina Nataliya , Rozhinskaya Liudmila

: Rarely PHPT could be a part of MEN 1 (2–4.5%). Little is known about clinical differences between MEN1 related and sporadic PHPT.Aim: To compare the clinical features of PHPT in MEN type 1 cases and sporadic PHPT.Materials and methods: Data were obtained in 442 patients: 62 sharing MEN1 phenotype (PHPT in association with pituitary adenomas and/or gastroenteropancreatic neuroendocrine tumors) (Group-I) and 380 with apparentl...

ea0016p374 | Growth factors | ECE2008

Pituitary hormone axes in constitutionally tall adolescents

Melnitchenko Galina , Koloda Dmitry , Pronin Vyacheslav , Tiulpakov Anatoly , Gitel Evgeny , Ordzhonikidze Zurab , Pavlov Vladimir , Preobrazhensky Vladimir

Objective: To evaluate the pituitary hormone axes in adolescents with constitutional tall stature (CTS).Materials and methods: About 120 patients (54 males and 66 females) with CTS aged 9.6–16.5 years (13.6±2.7 years, mean±S.D.) were enrolled in this study. Sixty-eight normal subjects (24 males and 44 females) aged 9.8–16.2 years (13.1±2.1 years), who were comparable in socioeconomic and nutritional terms, served a...