Endocrine Abstracts

Background: Hypocalcemia is one of the most frequent complications after thyroid surgery. The aim of this study was to investigate the clinical relevance, outcome, follow-up and management of patients with incidental parathyroidectomy during thyroid surgery.Subjects and methods: Two hundred and thirty-one patients (5.2%, 200 females and 31 males) of 4206 operated patients, which presented between 1989 and 2007 in our out-patient endocrine department, suf...

Introduction: Familial Chylomicronemia-FC syndrome is characterized by severely elevated triglyceride levels, i.e., levels of TG above 1000 mg/dl. Monogenic etiology is associated with a small but a significant fraction of Familial Chylomicronemia (FC) Syndrome cases, which is mainly attributed to a few genes, that are involved in Lipoprotein Lipase activity (LPL / LMF1 / APOC2 / GPIHBP1 / APOA5). Bi-allelic variants in these genes cause this rare Autosomal Recessive ...

The connection between metabolic state and fertility is well-recognized, and the hypothalamus clearly plays a central role in translating metabolic signals into altered GnRH release which affects the reproductive axis. We hypothesized that the gonadotropes might also directly impart some of the effects of hyperglycemia on reproductive function. Gonadotropes were shown to express predominantly the insulin-independent Glut-1 transporter, and their incubation in high glucose incr...

Pathogenic ARMC5 variants are the main genetic cause of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) explaining roughly 20% of index cases. These variants found both at germline and somatic level are mostly frameshift and nonsense leading to a loss of its function. ARMC5 acts then, as a tumor suppressor gene but little was initially known on its function. Using an RNAseq analysis on transient zebrafish models of Armc5 up- and d...

Objective: Several studies including ours have reported significant associations between polymorphisms (SNPs) of the HSD11B1 gene and bone metabolism. The aim of the present study was to explore systematically the potential associations between SNPs of the HSD11B1 gene and bone mineral density (BMD) in women with endogenous Cushing’s syndrome (CS) and healthy postmenopausal women.Patients and methods: A complex bioinformatical including haplotype an...

Polycystic ovary syndrome (PCOS) is the most common cause of anovulatory infertility. Although the cause of the anovulation is unknown there are a number of endocrine candidates; hyperinsulinaemia, raised steroid production and increased levels of the sexual differentiative factor anti-Müllerian hormone (AMH). The latter is increasingly thought to be an inhibitor of folliculogenesis. Hyperinsulinaemia in PCOS is now widely treated with metformin and we have shown that thi...

AMH causes regression of Müllerian ducts during male fetal development. Recently, AMH was detected in the adult ovary, principally in granulosa cells (GCs). Studies have demonstrated a 1.5–5 fold increase in serum AMH in women with PCOS compared to normal ovulatory women. The AMH rise was assumed to be secondary to increased numbers of follicles. Interestingly, the insulin sensitiser metformin, which is in widespread use in PCOS, caused a significant reduction in ser...

ARMC5 is a tumor suppressor gene responsible for 20 to 40% of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) with a function that remains unclear. Based on pathway analysis from RNAseq results obtained on zebrafish models of transient Armc5 up- and down-regulation, we identified transcriptional alterations of several members of SIRT1 (sirtuin (silent mating type information regulation 2 homolog) 1) signaling in our models and hypothesized that ARM...

Introduction: Altered sensitivity against glucocorticoids is partly influenced by polymorphisms (SNP) of the glucocorticoid receptor gene (GR). The aim of the present study was to extend our earlier study by inclusion and evaluation the role of the BclI and A3669G polymorphisms of the GR in patients with hormonally inactive adrenal adenomas.Description of methods: This is a retrospective, single-centre genetic association study The study included 99 pati...

Introduction: Pituitary gigantism is a rare disorder caused by GH-secreting lesions.Aim: We studied gigantism for genetic defects.Methods: We performed genome-wide analyses in 46 patients with gigantism and 248 patients with acromegaly.Results: We detected a novel microduplication at chromosome Xq26.3 in two unrelated kindreds and 13 sporadic cases de novo. All patients had disease onset before five ...