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 ...

Decorin is myokine expressed and released in response to muscle contractions. It induces growth and hypertrophy of skeletal muscles in different ways including myostatin inhibition. It is still not clear whether decorin takes part in development of muscle atrophy in endocrine pathologies.Objective: To evaluate decorin levels in patients with endogenous hypercortisolism and GH oversecretion.Materials and methods: Three groups were i...

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...

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...

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...

Background: Plasma microRNAs (miRs) (miR-4446-3p, miR-215-5p, miR-342-5p) were downregulated in patients with active acromegaly (AM) compared with healthy control subjects as assessed by next-generation sequencing.Aim: The aim of this study wasto validate the previously observed finding in the newly enrolled patients with AM using qRT-PCR.Materials and methods: Morning plasma samples were collected from fasting patients with AM and...

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...