Searchable abstracts of presentations at key conferences in endocrinology

ea0070aep231 | Bone and Calcium | ECE2020

A follow-up of a patient with osteopetrosis successfully treated with bone marrow transplant at the age of 28

Zhilyaev Viktor , Belaya Zhanna , Arapova Svetlana , Mamedova Elizaveta , Natalia Tarbaeva

Introduction: Osteopetrosis is a rare hereditary disease caused by defective osteoclast differentiation or function. Hematopoietic stem cell transplantation (HSCT) is a potentially curative treatment for some forms of osteopetrosis. HSCT is usually performed in infancy. Currently there is also experience of HSCT for osteopetrosis in adults1. In this clinical case we describe the follow-up of a patient treated with HSCT1 at the age of 28.<p class="abst...

ea0070aep630 | Pituitary and Neuroendocrinology | ECE2020

Clinical presentations of patients with MEN 1 syndrome and its phenocopies

Dimitrova Diana , Mamedova Elizaveta , Belaya Zhanna , Melnichenko Galina

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...

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...

ea0041ep749 | Neuroendocrinology | ECE2016

Molecular genetic analysis in familial isolated pituitary adenoma patients

Pigarova Ekaterina , Tarasova Tatiana , Mamedova Elizaveta , Dalantaeva Nadezhda , Tulpakov Anatoliy , Dzeranova Larisa

Introduction: FIPA- is a syndrome which includes pituitary adenomas with any kind of secretion in two or more members in a family in the absence of MEN or Carney complex; it also includes isolated family somatotropin syndrome (IFS).Aim: Molecular genetic study of a gene panel in FIPA patient.Materials and methods: Study included 1 family (2 men, 24 and 58 years) with pituitary adenomas with homogeneous secretion type — somatot...

ea0037ep1091 | Endocrine tumours | ECE2015

Mutation in CDKN1B 3′-UTR region in a patient with acromegaly and primary hyperparathyroidism

Mamedova Elizaveta , Mokrysheva Natalia , Pigarova Ekaterina , Przhiyalkovskaya Elena , Vasiliev Evgeniy , Rozhinskaya Lyudmila , Tiulpakov Anatoliy

Introduction: Multiple endocrine neoplasia type 4 (MEN4) is a rare disorder, caused by inactivating mutations in CDKN1B gene that encodes p27kip1 cyclin-dependent kinase inhibitor. To date nine different germline CDKN1B mutations have been described in patients with clinical features of multiple endocrine neoplasia type 1 (MEN1) negative for MEN1 mutations (MEN1 phenocopies).Case report: We present a female 54 y.o. w...

ea0026p204 | Pituitary | ECE2011

Efficacy of transsphenoidal surgery in treatment of Cushing’s disease: factors influencing postsurgical outcome

Molitvoslovova Natalia , Mamedova Elizaveta , Grigoryev Andrey , Kolesnikova Galina , Rozhinskaya Lyudmila , Arapova Svetlana , Marova Evgeniya

The study analyses direct postoperative and long-term results of surgical treatment of ACTH-secreting pituitary adenomas in 158 patients, operated between 2004 and 2009. There were 143 (91%) female and 15 (9%) male. The mean age of the patients was 36 years, S.D. 10.7. In all patients the diagnosis of Cushing’s disease was confirmed by high dose dexamethasone suppression test. Preoperative hormonal evaluation: ACTH (0800 h), pg/ml (Me-78.5 (50.5 (25th perce...

ea0073aep566 | Pituitary and Neuroendocrinology | ECE2021

Functioning gonadotroph adenoma accompanied by erythrocytosis in an elderly man

Mamedova Elizaveta , Buryakina Svetlana , Selivanova Liliya , Azizyan Vilen , Grigoriev Andrey , Belaya Zhanna

IntroductionClinically functioning gonadotroph adenomas (FGA) are rare, especially in men. We present a case of a LH/FSH-secreting functioning gonadotroph macroadenoma in an elderly patient, which manifested with visual impairment and was accompanied by secondary erythrocytosis.Clinical caseA 62-y.o. male was admitted to our hospital with a 9-month history of visual impairment and a 5-year history of plethora...

ea0081ep699 | Pituitary and Neuroendocrinology | ECE2022

Pituitary adenomas characteristics in patients with multiple endocrine neoplasia type 1, its phenocopies and sporadic acromegaly

Trukhina Diana , Mamedova Elizaveta , Lapshina Anastasia , Nikitin Alexey , Koshkin Philipp , Azizyan Vilen , Grigoriev Andrey , Belaya Zhanna , Melnichenko Galina

Multiple endocrine neoplasia type 1(MEN1) is a hereditary condition caused by mutations in the MEN1 gene, which encodes menin protein. The syndrome predisposes to the development of tumors in both endocrine and non-endocrine systems. In patients with MEN1, pituitary adenomas (PA) occur in approximately 40% of all cases. If patient has MEN1 phenotype with no mutations in MEN1 gene, the condition is regarded as a phenocopy. The reason of several endocrine MEN1-...