Endocrine Abstracts

Increasing evidence has recently accumulated suggesting that IGF1 system is involved in the regulation of longevity. While in animal models alterations of IGF1 signalling increase life expectancy, in humans there are contradictory data. Centenarians are an extraordinary model to study human longevity, however, they present a number of drawbacks: rarity, frailty due to extreme age and lack of a control group of the same age. The availability of an age-matched control group is c...

The standard technique for the functional imaging of pheochromocytoma and paraganglioma (PPGL) is [123I]-metaiodobenzylguanidine single photon emission computed tomography (MIBG SPECT). However, metastases are more accurately detected by 2-[18F]-Fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET). In a large prospective study of 216 patients evaluated at the NIH for benign or malignant PPGL, we investigated the sensitivity and specificity of FDG PET ...

Case history: A 28 year old male presented following his first generalised tonic clonic seizure in the context of a headache with mild photophobia, nausea and vomiting. He was haemodynamically stable, euvolaemic and had no focal neurological deficit, but was mildly disoriented. He had reported cannabis and MDMA use 8 days prior to his presentation. The patient was profoundly hyponatraemic with a serum sodium of 108.Investigations: Serum osmolality was 22...

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by resistance to the action of ACTH leading to glucocorticoid deficiency with preserved mineralocorticoid and gonadal function. In 1993 we identified mutations in the ACTH receptor (melanocortin 2 receptor; MC2R), although these only explained around 25% of cases. More recently a traditional homozygosity mapping approach identified mutations in a novel gene which we named melan...

Background: Clinical manifestations of hyperthyroidism resemble those of hyperadrenergic state. Previous studies of linear analysis of heart rate variability (HRV) revealed cardiac autonomic dysfunctions in hyperthyroidism. In recent years, increasing attention is being directed to the nonlinear analysis of HRV to gain insight into neural modulation of heart rate dynamics. Based on the chaos and fractal theory, an attractor in phase space can characterize the dynamics of a cha...

Familial glucocorticoid deficiency is an autosomal recessive disorder characterised by resistance to ACTH of the adrenal cortex, leading to isolated glucocorticoid deficiency and life-threatening hypoglycaemia. Half of all cases are caused by mutations in MC2R, MRAP, MCM4 or STAR. Recent work in our group has identified defects in nicotinamide nucleotide transhydrogenase (NNT) to be causal in a further 10% of cases. NNT generates the high con...

Introduction: Men with the metabolic syndrome have low plasma testosterone (T) levels. We aimed to study whether normalization of plasma T in such men improved features of the metabolic syndrome over the longer term.Design/methods: 145 men, 35 to 70 years, with the metabolic syndrome and hypogonadism (baseline total testosterone level <12.0 nmol/l or calculated free T level <225 pmol/l). They had received treatment for 30 weeks with either parent...

Objective: Many studies suggest that thyroid function modifies the process of healthy aging in humans. However, both a progressive increase and decrease of TSH with advancing age have been reported. The discrepancy may lie in the iodine intake in the population under, since low iodine intake results in an inverse association of TSH with age, while high iodine intake results in a positive association. We aimed to investigate whether FT4, FT3 and FT3</...

Background: Thyroid carcinoma is the most common endocrine malignancy. BRAF (V600E) mutation is the most frequent detected genetic change in papillary thyroid carcinomas (PTC). There are some discrepancies regarding the overall frequency of the mutation, its prevalence in PTC-variants and its relationship with clinicopathological parameters of poor outcome.Aims: To investigate the relationship of clinicopathological features of PTC with BRAF mutation wit...

Introduction: Graves’ disease treatment with antithyroid drugs may be associated to several side effects. Vasculitis development is rare.Clinical case: The authors present the history of a 41-year-old woman with Graves’ disease followed at endocrinology consultation since February 2004. Three years and a half after starting treatment with propilthiouracil (PTU), she developed eritematous and itching stains in the inferior limbs that spontaneous...