Endocrine Abstracts

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 ...

Objective: To analyze registry data on patients with acromegaly.Materials and methods: Russian hypothalamic and pituitary tumors registry database (on-line platform), which contains data on 3719 patients with acromegaly.Results: According to the database, highest prevalence of acromegaly per 100 000 inhabitants is registered in: Penza region (7.3), Kirov region (7.3), Krasnoyarsk region (6.2). Most common clinical presentations in ...

Introduction: Regardless of improvements in MRI, up to 20% of ACTH-secreting pituitary tumors are only identified at surgical exploration. The objective was to estimate whether there is any difference in blood vessels and the subsequent ability to uptake contrast agent in visualized micro-adenomas as compared to non-visualized on MRI ACTH-secreting pituitary tumors.Materials and methods: Retrospective evaluation of ACTH-positive pituitary tumors from pat...

Introduction: Recent evidence suggests that the skeleton might be another affected organ in patients with type 2 diabetes mellitus (T2DM). This study evaluates the prevalence of low-traumatic vertebral and non-vertebral fractures and their risk factors in subjects with T2DM.Materials and methods: We invited outpatients with T2DM, who were under observation in a single outpatient clinic. The subjects were interviewed regarding the presence of low-traumati...

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...

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...

Aim: To assess the size changers of prolactinomas after pregnancy and lactation.Material and methods: We have analyzed the Russian register of tumors of the hypothalamic–pituitary region and conducted additional surveys of patients with prolactinomas who had pregnancy. We obtained data from 33 patients with prolactinomas who had 45 pregnancies and MRI studies prior and during/after pregnancy and lactation. Five patients had macroadenomas and 40 micr...

Introduction: ACTH-secreting pituitary adenoma tissue differs from normal pituitary gland tissue in microRNA (miR) expression. MiRs are secreted into circulation and can be detected as potential biomarkersAim: To evaluate the difference in miR levels in plasma samples drained from inferior petrosal sinuses in patients with Cushing’s disease (CD) and ectopic-ACTH syndrome (EAS).Materials and methods: we enrolled 24 patients wi...

Introduction: This study evaluates the diagnostic accuracy of clinical features and first line routine screening tests to differentiate ACTH-ectopic syndrome from Cushing’s disease (CD).Materials and methods: The retrospective clinical and biochemical presentations of 180 patients with histologically proven ACTH-dependent Cushing’s syndrome (CS) (159 CD, 21 ACTH-ectopic syndrome) were compared according to the cause of hypercortisolism. ROC-ana...

: 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...