Endocrine Abstracts

Objective: To evaluate prospectively the relationship between Yersinia Enterocolitica (YE) infection and the development of overt autoimmune hypo- or hyperthyroidism (study A) and the de novo occurrence of thyroid antibodies (study B).Subjects and methods: Prospective cohort study of 790 euthyroid women who were 1st or 2nd degree relatives of AITD patients. Follow-up was 5 years, with annual assessments.Study A. Nested case&...

Introduction: The association between autoimmune thyroid diseases and papillary thyroid carcinoma (PTC) is still controversial and it is based only on retrospective analyses.Objective: Aim of the present research was to evaluate this association in a prospective study of unselected consecutive thyroid nodules (TN) submitted to fine-needle aspiration cytology (FNAC), anti-thyroid autoantibodies (ATA) measurement and histological analyses of surgical sampl...

Introduction: Vitamin D (vitD) deficiency is a worldwide epidemic health problem, with a prevalence of about 70–100% in general Indian population. The objective of this cross-sectional, clinico-epidemiological, Pan-India study was to evaluate the prevalence of vitD deficiency in patients with Type-2 diabetes mellitus (T2DM) or hypertension (HT) or both T2DM and HT and to understand the management practices in Indian real-world setting.Methods: Adult...

Context: Estrogens may have protective properties in the cardiovascular system, linked to the activation of estrogen receptor alpha (ERα), present in vascular smooth muscle cells (VSMCs) and endothelial cells (ECs). ERα-mediated signaling regulates vasodilatation and atherogenesis, and since hypertension and atherosclerosis are major mechanisms in stroke development, we hypothesized that genetic variations in the ERα gene (ESR1) were associated with strok...

Introduction: Refractory hypothyroidism is associated with significantly increased morbidity and healthcare costs. During the evaluation of refractory disease, a thyroxine absorption test is frequently performed using different protocols. We assessed the usefulness of the supervised rapid thyroxine absorption test in a low-resource setting and formulated a useful model to determine the expected FT4 rise in hypothyroid patients without known malabsorption.<p class="abstext"...

Background and aims: Congenital hypopituitarism (CH) encompasses a spectrum of phenotypes. Known genetic factors account for variable percentage of cases depending on the cohort screened. We analysed the results of genetic screening in a large cohort of patients with CH with the following aims: i) to clarify the genetic aetiology of CH ii) identify any phenotype genotype correlations and iii) propose a screening strategy.Patients and methods: Over 15 yea...

3-M syndrome is an autosomal recessive primordial growth disorder characterized by pre- and post-natal growth restriction, facial dysmorphism and radiological abnormalities. Mutations in the gene CUL7 have been previously shown to cause 3-M syndrome. CUL7 is a member of the cullin family of E3 ubiquitin ligases involved in targeted protein degradation.We identified a large cohort of 3-M syndrome patients who did not carry CUL7 mutations but...

Background: Lower cut-offs in TSH screening have doubled the incidence of congenital hypothyroidism (CH), particularly cases with an eutopically-located Gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes, or the thyrotropin-stimulating hormone receptor (TSHR) may underlie such cases, these genes have not previously been screened comprehensively in a GIS CH cohort.Study design: We evaluated the relative contribution and mole...