Endocrine Abstracts

Abstract: The incidence of multiglandular parathyroid disease (MGD) varies in the range 7–33%. Negative preoperative imaging is a strong predictor of MGD in patients with primary hyperparathyroidism (PHPT). We retrospectively evaluated a cohort of 13 patients with PHPT and inconclusive MIBI scintigraphy and/or neck ultrasound (mean age 64 years, total calcium 2.74 mmol/l and parathyroid hormone (PTH) 114 ng/l). All subjects subsequently underwent additional imaging with f...

Alzheimer’s disease (AD) is a neurodegenerative diseasethat is manifested by a progressive loss of cognitive and behavioral function. In previous studies, we have constructed a predictive model for the classification of AD patients based on levels of circulating steroids and their polar conjugates.Both AD and Type 2 diabetes mellitus(T2DM) are well known to affect the levels of some steroid hormones, however, in the opposite direction, and in a gen...

Aim: To study the insulin sensitivity and secretion in women with polycystic ovary syndrome (PCOS).Subjects and methods: Thirty-eight women with PCOS (age 26.1±4.1 years, BMI 20.9±2.0 kg/m2) and 81 control healthy women (age 25.8±5.2 years, BMI 21.1±2.3 kg/m2) underwent oral glucose tolerance test (OGTT). Insulin resistance was evaluated as oral glucose index (OGIS); Matsuda and HOMA-IR, insulin secretion was cal...

Background and aims: Medullary thyroid carcinoma (MTC) occurs as a sporadic or less commonly as an inherited form which comprises multiple endocrine neoplasia (MEN) type 2A and 2B and familial MTC. Whereas over 95% of patients with MEN2 syndrome have a germline missense mutation in the RET proto-oncogene, the detection rate of germline mutations in FMTC patients is lower as well as the detection rate of somatic mutations in sporadic MTC tumor tissues. In this context, s...

Medullary Thyroid Carcinoma (MTC) can be associated with Hirschsprung’s disease (HSCR). Mutations in exon 10 of the RET proto-oncogene were found in patients with co-occurrence of HSCR and MTC. The aim of the study was to screen the MTC risk exons in patients with HSCR. The genetic analysis comprised 73 HSCR patients (53 males, 20 females) who were operated on and followed-up during 2001-2006. The cohort consisted of 48 patients with classical HSCR, 11 with long colonic a...

Alzheimer’s disease (AD) is a neurodegenerative disease that manifests itself in the gradual loss of cognitive and behavioral functions. In humans, glucagon is processed in pancreatic alpha cells located next to insulin-secreting beta cells, suggesting a local interaction. Glucagon is also produced in the intestinal L-cells and in small amounts in the hypothalamus. The main function of glucagon is to counteract the effects of insulin and thus maintain balanced blood gluco...

Introduction: Melatonin is a crucial hormone for controlling sleep rhythms and disruption of its natural secretory rhythmicity is considered to be one of the causes of type 2 diabetes mellitus. The MTNR1B gene encodes the melatonin receptor. Polymorphism rs10830963 in this gene shows an association with fasting blood glucose and impaired glucose tolerance. Current studies suggest that carriers of the minor allele G have a slightly shifted cycle of melatonin secretion toward a ...

Introduction: Hereditary medullary thyroid carcinoma (MTC) is associated with only one major cause – germline mutations in the RET proto-oncogene. The most of tested families with MTC is related to specific RET mutation, however, very small number of families left unresolved without the causing inherited mutation. New techniques of next generation sequencing give hope in finding the new candidate genes that could be involved in the pathogenesis of these ...

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary tumor syndrome. Common manifestations include more than 20 tumors of the parathyroid, pituitary and pancreatic glands and others non-endocrine tumors. The majority of patients carry a germline mutation in a tumor-suppressor gene MEN1, that encodes nuclear protein menin, ubiquitously expressed. So fare, more than 600 germline or somatic mutations have been reported over the...

The identification of genomic determinants responsible for common multifactorial diseases like type 2 diabetes mellitus (T2DM) is facilitated in large families from relatively genetically-isolated populations and can extend results from GWS based on a case–control cohort to detect rare alleles with strong effects. In order to search for sequence variants conferring risk of T2DM we previously conducted a genome-wide linkage study in 108 French–Canadian families from t...