Endocrine Abstracts

Introduction: The MEN1 syndrome is caused by inactivating mutations of MEN1, a tumor suppressor gene encoding menin. A sporadic presentation is relatively rare (8-14%) and could be due to de novo mutations.Aim: To present an MEN1 case diagnosed following a routine consultation for amenorrheaCase presentation: A 44-year-old female presented with secondary amenorrhea and a history of complicated renal lithiasis requiring rep...

Background: Higher anti-Müllerian hormone (AMH) values are associated with polycystic ovary syndrome (PCOS) and AMH is proposed as a marker of PCOS, however, the optimal diagnostic threshold is not yet defined.Aim: To study the significant correlations of AMH in PCOS and the accuracy and threshold of AMH for the PCOS diagnosis in Romania.Subjects and methods: Serum AMH, TT, LH, FSH, fasting glucose and insulin (Ins), HOMA-IR a...

Background: Recent data highlight the role of anti-Müllerian hormone (AMH) to trigger the neuroendocrine abnormalities involving GnRH and secretion of gonadotropins in polycystic ovary syndrome (PCOS).Aim: To study factors significantly correlated with neuroendocrine dysfunction in PCOS, with focus on AMH.Subjects and methods: We performed a cross-sectional study in 137 patients with PCOS selected by Rotterdam 2003 criteria an...

Background: Hyperandrogenism is a main feature of the polycystic ovary syndrome (PCOS). Although its ovarian origin is well recognized, laboratory investigation suggested the contribution of adrenal gland, albeit of unknown mechanism.Aim: To understand the contribution of genetic factors in adrenal hyperandrogenism (AH) we investigated genome wide SNPs in subgroups of PCOS patients stratified as function of DHEAS levels in two ethnic populations (Romania...

Background: PBMAH is a rare cause of adrenal Cushing’s syndrome, frequently due to aberrant adrenal expression of hormonal receptors.Aim: To describe 6 patients with PBMAH.Methods: Clinical, hormonal and imagistic evaluation.Results: Age at diagnosis of patients (4M/2F) was 50–79 years. One asymptomatic patient was incidentally diagnosed on abdominal CT, two patients had overt Cushing’s (centra...

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...

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...