Endocrine Abstracts

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...

Intrathyroidally located parathyroid carcinoma is extremely rare cause of primary hyperparathyroidism. Multifocal papillary and follicular thyroid carcinomas are rather common.We report a case of 40-year old man presenting with substantial weight loss, anemia and multiple osteolytic lesions of both tibias. Peak serum calcium level was 5.0 mmol/l, parathyroid hormone (PTH) level was 989 pg/ml. Left thyroid lobe was firm and enlarged. Routine percutaneous ...

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...

Background: A high percentage of adult smokers try to quit, but most of these attempts fail. The ability to predict the success or failure of smoking cessation efforts will be useful for clinical practice. Stress response is regulated by two primary neuroendocrine systems. Salivary cortisol has been used as a marker for the hypothalamus-pituitary-adrenocortical axis and salivary α-amylase as a marker for the sympathetic adrenomedullary system.Method...

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...

Melanocortin-4 receptor (MC4R) gene is expressed in the brain and has been implicated in mediating most of the effects of melanocortin on food intake and energy expenditure. Common variants of MC4R gene are associated with fat mass, weight, risk of obesity and insulin resistance in several populations.We investigated if rs12970134 A/G is associated with obesity and studied its possible metabolic effects.Polymorphism was assesed by ...

Fibroblast growth factor-21 (FGF-21) is a novel regulator of metabolic homeostasis that improved diabetes compensation and dyslipidemia in diabetic mice and monkeys. However, little is known about its regulation in humans. Cushing’s syndrome (CS) is characterized by endogenous hypercortisolism and is often associated with numerous metabolic abnormalities. The objective of this study was to test the hypothesis that CS is associated with altered levels of FGF 21 that may in...

The endocrine active compound 4-methylbenzylidene-camphor (4-MBC) is frequently used as an UV absorber in sunscreens and various skin care products. Though 4-MBC is weakly estrogenic in the reproductive system of fishes and rodents it shows strong anti-osteoporotic effects. Furthermore, different studies show percutanous absorption of 4-MBC after dermal administration resulting in identical biotransformation in humans and rats. Female Sprague-Dawley rats received five concentr...

The prevalence of growth hormone deficiency (GHD) following traumatic brain injury (TBI) based on IGF-1 testing differs in literature between 10 and 40%. In our cohort the frequency of IGF-1 values <1 S.D. was 25%. If our patients had a minimal hepatocellular damage, the IGF-1 value could be <1 S.D. We evaluated the effects of BMI and liver function on IGF-1 and IGFBP-3 values in patients following TBI or subarachnoidal haemorrhage (SAH).<...