Endocrine Abstracts

Introduction: Hyponatremia after transnasal neurosurgery for pituitary adenomas is a serious and not so rare complication. It often occurs in a delayed manner after patient’s discharge and is a major cause of readmission. The pathogenesis of postneurosurgical hyponatremia is not clear yet.Aims: To study the role of posterior pituitary hormones (antidiuretic hormone (ADH) and apelin) and reaction of renin-aldosterone system (RAS) at hyponatremia mani...

Objectives: To evaluate predictors of permanent, transient and three-phase diabetes insipidus (DI) in patients undergoing endoscopic endonasal transsphenoidal surgery.Patients and methods: The study included 154 patients undergoing endoscopic endonasal transsphenoidal surgery (122 women and 32 men) age from 18 to 65 years (median 40 (31;52)). 73 patients with Cushing disease, 66 patients with acromegaly, four patients with prolactinomas, nine patients wi...

Background: Hypercalcemia may stimulate thyroid’s C-cells to produce the calcitonin, that could lead to misdiagnosis of medullary thyroid cancer.Clinical case: A 47-year-old woman suffered from fracture of the left knee. She could not walk and used a wheelchair. CT scan in a public hospital detected multiple bone lytic changes in the ribs and vertebrae (mts?), tumor in the liver (mts?) and node in the thyroid gland 2.6*1.9 cm. Thyroid biopsy showed ...

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: 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: 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...

Objective: To assess the sensitivity of granins – chromogranin A (CgA), secretogranin II (SgII), and secretoneurin (Sn) as biochemical and immunohistochemical markers of non-functioning pituitary adenomas (NFPAs):Methods: 50 patients with NFPAs were included in the study. Tissue samples were immunostained for pituitary hormones, Ki-67, αSU, CgA, SgII, and Sn. Furthermore, we have determined the levels of CgA, SgII in the serum and Sn in the pla...

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: 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...