Endocrine Abstracts

Introduction: Fibrous dysplasia (FD) is a rare mosaic disorder originating from the activating mutation in the gene encoding the alpha subunit of the Gs stimulatory protein (GNAS) in multipotent skeletal stem cells that cannot differentiate into bone-forming osteoblasts. FD is thought to be a self-limited disease with a peak of activity in childhood and a waning of activity in adulthood.Case presentation: We report a 39-year-old woman with mild ...

McCune-Albright syndrome (MAS) is a rare mosaic disorder caused by a postzygotic activating mutation in the GNAS gene encoding the G protein alpha subunit. Although clinical manifestations may be heterogeneous, MAS is often characterized by the triad of fibrous dysplasia, café-au-lait skin pigmentations and hyperfunctioning endocrinopathy. We report here a 58-year old woman who presented for evaluation of hyperthyroidism, associated with nodular thyroid disease and elevat...

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...

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...

Polycystic ovary syndrome (PCOS) is considered as a risk factor for diabetes type 2 (DM2), it is often associated with obesity, β-cell dysfunction or insulin resistance. Genetic factors underlying the association of PCOS with DM2 is unknown. Recent human genetic studies have revealed that transcription factor 7-like (TCF7L2) polymorphisms are associated with DM2 through modulation of β-cell function.The aim of this study was to test if <...

Background and aims: The fat mass and obesity associated gene (FTO) was identified as a gene with strong obesity related traits nevertheless the exact mechanism is still unknown. Our aim was to study the possible effects of FTO risk haplotype on anthropometric data and metabolic and hormonal parameters in lean women (to eliminate the influence of BMI) and to evaluate the effect of hormone contraception (HC).Materials and methods: The SNPs r...