Endocrine Abstracts

Monogenic obesity disorders and mouse models of obesity have overwhelmingly pointed to hyperphagia as the predominant genetic force in promoting obesity, it was therefore no surprise when the most robust common variant associated with obesity from GWAS studies was associated with increased energy intake. We and other groups have shown that variants in the FTO gene are not associated with increased food intake per se, but rather display a preference for energy dense foods resul...

The extracellular matrix protein laminin forms polymers both in vivo and in vitro. Acidification of pH leads to the formation of an artificial polymer with biomimetical properties, named poly-laminin (polyLM). Follicular cells in the thyroid are in close contact with laminin, but their response to this important extracellular signal is still poorly understood. Thyroid PCCL3 epithelial cells cultivated either on glass, regular laminin (LM) or laminin previously po...

CDGP is a common growth disorder, often dominantly inherited. Genetic association is thus very likely. There are many possible candidates but none are yet linked to CDGP. We assessed the possible contribution of L, LR genes (mutations in each cause very delayed or absent puberty), CART (mediates the effect of L on GnRH pulse generation), and GPR54 (a hypothalamic G-protein coupled receptor, which is mutated in familial hypogonadotrophic hypogonadism) genes.<p class="abstex...

Triorganotins, such as tributyltin (TBT), are environmental contaminants commonly found in antifouling paints that are used on the ships and other vessels. Unfortunately, these chemical are also suspected to cause endocrine-disrupting effects in mammals, due in part to their possible transfer through marine food chains and to the consumption of contaminated seafood. The importance of triorganotins as environmental endocrine disruptors in different animal models is well known; ...

The prevalence of diabetes is increasing worldwide. According to the recent World Health Organization (WHO) estimates, more than 180 million people worldwide have diabetes. This number is likely to be more than the double by 2030. It is estimated that the developing countries will bear the brunt of diabetes epidemics in the 21st century. It is well known now that increased rates of other chronic diseases, such as hypertension, obesity, cardiovascular diseases are highly associ...

Purpose: Hypothyroidism has been associated with atrial fibrillation (AF) in some studies. This study aimed to characterize thyroid related genetic variants that may change susceptibility to AF in patients on thyroid hormone replacement therapy (levothyroxine).Methods: A case-control study was done among patients of European Caucasian ethnicity from the Genetics of Diabetes Audit and Research Tayside (GoDARTS) recruited in Tayside (Scotland...

Purpose: Hypothyroidism has been associated with atrial fibrillation (AF) in some studies. This study aimed to characterize thyroid related genetic variants that may change susceptibility to AF in patients on thyroid hormone replacement therapy (levothyroxine).Methods: A case-control study was done among patients of European Caucasian ethnicity from the Genetics of Diabetes Audit and Research Tayside (GoDARTS) recruited in Tayside (Scotland...

Background: Identifying individuals harbouring germline mutations in hereditary cancer genes provides opportunities for tumour surveillance programs, disease-specific treatment and cascade testing in family members but is reliant on accurate variant interpretation, which may be confounded by imprecise methods for ascribing pathogenicity. Where insufficient evidence supports a definitive classification, ‘variant of uncertain significance’ (VUS) status is applied, whic...

Introduction: Psychiatric disturbance is a recognised complication of glucocorticoid therapy. Patients on a daily dose of 40 mg of prednisolone or its equivalent are at risk of developing steroid psychosis. Psychotic reactions with replacement doses of glucocorticoid are uncommon. We describe a patient with newly diagnosed hypopituitarism who developed severe steroid induced psychosis with low dose hydrocortisone.Case report: A 72-year-old lady presented...

Introduction: Papilar thyroid carcinoma (PTC) is the most common thyroid neoplasia. It usually has a good prognose, being lymph node spread common. Distant metastasis are present in 9–10% of cases, worsening prognose. Cerebral metastasis are extremely rare, representing 1% of all metastasic PTC.Case report: A 68-year-old man was sent to the Endocrinology Unit for follow-up of a PTC that had been operated (total thyroidectomy) 2 months before. After ...