Endocrine Abstracts

Background: Pituitary apoplexy (PitApo) has significant associated-morbidity and its management is not yet standardised.Aim: To describe prevalence and characteristics of PitApo patients in GH deficient (GHD) patients compared with two control populations.Patients and methods: Patients with ‘infarction-apoplexy’ GHD aetiology code were identified from Pfizer International Metabolic Database (KIMS). Baseline characteristic...

Background: PA is a frequent cause (5–13%) of secondary hypertension (HT), yet diagnostic work-up of PA remains challenging.Aim: To describe the characteristics of a series of hypertensive patients diagnosed with PA compared to those with negative biochemical screening (aldosterone-to-renin ratio/ARR)Methods: Clinical, hormonal and imaging evaluation.Results: We have screened for PA 34 patients diagnose...

Background: Patients with Cushing’s Syndrome (CS) have a high risk of venous thromboembolism (VTE) related to a hypercoagulable state. Previous studies showed increased levels of procoagulant factors but also an elevation of some of the anticoagulants factors and fibrinolytic enzymes. Once patients achieve disease remission, there is a significant decrease of some procoagulant factors but if these alterations are completely reversible is still unclear. Compared to tradit...

Introduction: We have recently described a novel AIP mutation c.940C>T, p.R314W, in a young sporadic acromegaly patient.Aim: To present a new case of AIP p.R314W mutation and screening results of a Romanian control group for p.R314W.Patients and methods: One sporadic acromegaly patient, investigated by sequencing screening of all six AIP exons, following informed consent, as part of a sporadic pituitary adenoma cohort. 110 cont...

Locus-specific databases (LSDBs) have been recently developed in response to the increasing number of genetic changes reported in the human genome. LSDBs have been created for several genes implicated in endocrine syndromes, for example MEN1, VHL, RET, GNAS, PRKAR1A and the SDH subunits. Mutations in AIP are found in about 20% of familial isolated pituitary adenoma (FIPA) patients.The aim of this proj...

Background: Hyperandrogenism (HA) is required for diagnosis of polycystic ovary syndrome (PCOS) and it is central to PCOS pathogenesis. Putative mechanisms of hyperandrogenism include disregulation of steroidogenesis, plasma transport and peripheral tissue regulation. Therefore, 5-alpha reductase genes (SRD5A1, SRD5A2), that regulate peripheral tissue conversion of testosterone to more potent dihydrotestosterone are good PCOS candidate genes. The single published study of SRD5...

Background: According to current guidelines, RET mutation screening is indicated for MEN2 and familial MTC (FMTC) kindreds, as well as for apparently sporadic MTC patients.Aim: To investigate RET mutations in Romanian MEN2, FMTC and sporadic MTC cases.Patients and methods: RET mutation screening was performed by high-resolution melting analysis followed by direct sequencing of PCR products of exons 10-11 in 7 MEN2A families, 2 FMTC...

Background: The incidence of metabolic syndrome (MetS) is higher in polycystic ovary syndrome (PCOS) patients than in the general population. However, it is still unclear if MetS is qualitatively different in PCOS.Aim: To compare the distribution of MetS diagnostic criteria and of insulin-resistance in subjects with MetS (PCOS versus matched controls).Patients: Of 97 patients with PCOS (Rotterdam criteria) and 31 age- and BMI-match...

Introduction: Pituitary adenomas (PAs) are rare in childhood and the transition period, can result from AIP/MEN1 mutations, are difficult to manage and severely impair quality-of-life.Aim: To describe the clinical and genetic characteristics of patients with PA onset before 21 years old.Patients and methods: Retrospective study (1980–2015). Clinical, imaging and hormonal data, AIP/MEN1 sequencing.<p class...

Background: Multiple endocrine neoplasms (MEN) are a rare hereditary syndrome, caused by an autosomal dominant mutation due to germline mutation in the rearranged during transfection (RET) proto-oncogene. According to the new WHO guidelines, MEN type 2 (formerly known as MEN 2A) is characterised by medullary thyroid cancer (MTC), paragangliomas, primary hyperparathyroidism (PHP) and cutaneous lichen amyloidosis.Objectives: To present the clinical and par...