Endocrine Abstracts

Background: Obesity is related to an increased cardiovascular risk, namely coronary heart disease risk (CHDr). Type 2 diabetes (T2D) is frequently associated with obesity and, by itself, is an important CHDr factor. Interventions that induce weight loss would be expected to attenuate CHDr in obese patients.Aims: To evaluate variation in cardiovascular risk profile one year after adjustable gastric banding (AGB), in obese patients (with and without T2D); ...

Mutations in the plasma membrane thyroid hormone (TH) transporter, MCT8, are associated with severe global neurological deficits accompanied by abnormal circulating TH levels. We have previously shown that MCT8 over-expression in human neuronal precursor cells (NT2) increases cellular T3 uptake and reduces proliferation.Objectives: To quantify and localise the expression of MCT8 in human fetal CNS and to investigate the role of MCT8 in NT2 neurodifferent...

Introduction: Pituitary adenomas are the most common cause of sellar masses from the third decade on, accounting for up to 10 percent of all intracraneal neoplasms.Objective: To review pituitary adenomas diagnosed in Burgos.Patients and methods: It was a retrospective study in which we reviewed a total of 90 pituitary adenomas detected in Burgos from 1983 to our days.Results: About 65% were macroadenomas and ...

The importance of thyroid hormone (TH) transporters to central nervous system (CNS) development has been highlighted by reports of severe global neurological impairment associated with mutations in the potent TH transporter, MCT8. Even subclinical maternal hypothyroidism in early pregnancy has been associated with long-term neurodevelopmental delay in the offspring suggesting that TH is crucial for early fetal brain development. The cellular entry of TH requires the function o...

The hyperparathyroidism-jaw tumour (HPT-JT) syndrome is an autosomal dominant disease characterised by the occurrence of parathyroid tumours, which are often carcinomas, and fibro-osseous tumours of the jaw bones. The HPT-JT gene is on chromosome 1q25 and consists of 17 exons that encode a 531 amino-acid protein, designated PARAFIBROMIN (Nature Genetics, in press). Thirteen heterozygous germline mutations that result in truncated or inactivated forms of PARAFIBROMIN have been ...

Background: Fungal infections are a rare cause of primary adrenal insufficiency, raising difficulties in the diagnostic and therapeutic approaches.Case report: A 56 years old diabetic male, who lived in Guinea in 1968, was referred to our inpatients clinic because of a 7,7x3 cm adrenal incidentaloma. He presented with hyperpigmentation, postural symptoms, weakness, fatigue, anorexia and weight loss.The rapid ACTH stimulation test h...

Background: The screening of patients and relatives for the presence of inactivating mutations of the MEN 1 gene, established quite accurately those for prospective detection of neoplasms. Active search for pancreatic lesions has increased the detection of neuroendocrine pancreatic tumours (NEPT) at early ages, most asymptomatic and with no signs of malignancy at diagnosis.Case Report: We describe one kindred where five members were identified as carrier...

Introduction: Type 2 diabetes mellitus have been associated with excessive production of reactive oxygen species. Glutathione S-transferase (GST) polymorphisms result in decreased or absent enzyme activity and altered oxidative stress. Meta-analyses have indicated that deletion of either GSTM1 or GSTT1 is associated with a significant increased risk of coronary heart disease. The aim of this study was to evaluated if ascorbic acid (AA) plasma levels differ by GST genotype in d...

Introduction: Various thyroid imaging reporting and data systems (TIRADS) have been proposed in recent years, such as the EU-TIRADS proposed by the European Thyroid Association (ETA). These classification systems intend to estimate the malignancy risk of thyroid nodules, however they are very much based on suspicious ultrasound (US) features typical of papillary thyroid cancer. As such, follicular carcinomas may be reported as low suspicion nodules. Our work aims to evaluate t...

IntroductionHypoparathyroidism (hypoPT) is one of the most complications after thyroid surgery, usually as transient hypocalcemia. Permanent hypoPT due to permanent parathyoid lesion, despite being less frequent, is associated to long term consequences for both objective and subjective well-being and should be prevented. Identifying predictive factors associated with post- thyroidectomy hypoPT is thereby crucial.Aim<p class="ab...