Endocrine Abstracts

IntroductionThe clinical cases of insulinoma patients with well-studied hereditary syndromes due to mutations in the MEN1, VHL, TSC1, and TSC2 genes are repeatedly described in the literature. At the same time, the hereditary nature of the pathology is highly probable in young patients with primary multiple lesions without mutations in these genes. In such cases, one can assume the presence of germline mutations in genes with the descr...

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–...

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 ...

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...

Introduction: Hyperparathyroidism-jaw tumour syndrome (HPT-JT) is a rare disorder, which is frequently characterized by the development of parathyroid carcinomas and atypical parathyroid adenomas and, thus, severe course of primary hyperparathyroidism (PHPT).Case reports: Two patients (1 male and 1 female, 18 y.o. and 13 y.o. at the time of diagnosis of PHPT, respectively) among a cohort of young patients (<40 y.o.) with PHPT, underwent next...