Endocrine Abstracts

Autoimmune Addison’s disease (AAD) results from the immune mediated selective destruction of adrenal steroid hormone-secreting cells. Autoantibodies (Abs) against 21-hydroxylase (21OH) are diagnostic present in 85–90% newly diagnosed patients. Its genetic susceptibility is conferred by human leukocyte antigen (HLA) DQ2 and DQ8. In many patients autoimmunity extends forming the autoimmune polyglandular syndrome type 2 (APS-2). The aim of this study was to test, whethe...

Background: Primary adrenal insufficiency (PAI) is sometimes misdiagnosed as autoimmune Addison’s disease (AAD), affecting clinical management and genetic counselling. We tested a polygenic risk score (PRS) for AAD (PRS14AAD) as a tool to reevaluate disease etiology and identify patients misdiagnosed with AAD.Methods: We calculated the PRS14AAD in a cohort of patients diagnosed with AAD but lacking 21-hydroxylase autoantibodies...

Due to the rarity of autoimmune Addison’s disease (AAD), it has proved difficult to gather large case cohorts for genetic studies. Linkage analysis offers a powerful means of identifying genetic susceptibility loci but has never been applied to AAD because of the scarcity of families containing ≥2 affected individuals. We collected DNA from 23 such families to perform the first linkage study in AAD.We genotyped 117 samples (50 cases, 67 contro...

Autoimmune Addison’s disease (AAD) is a rare, highly heritable endocrinopathy with an estimated λsibling (ratio of risk to a sibling vs the unrelated background population) of 160–210. The majority of the genetic risk to AAD has yet to be accounted for. We have used a tag-SNP approach to seek association between single nucleotide polymorphisms (SNPs) in the GATA3 gene and autoimmune Addison’s disease (AAD). 2001 AAD cases and 1898 controls were included in ...

When cultured in serum-free conditions, primary cultures of human thyroid cells display TSH-dependent iodide uptake and organification and iodide-dependent thyroid hormone synthesis. High iodide concentrations (>1 microM) inhibit thyroid hormone synthesis but iodide (0.1 microM) is obligatory for thyroid hormone secretion into the medium. We have performed in vitro studies examining the regulation of iodide transport and organification in cells preincubated in varying conce...

Introduction: Interleukine-4 (IL-4) a T-helper type 2 cytokine (Th2), has been implicated in the pathogenesis of autoimmune thyroid diseases (AITD). However, the role of IL-4 in Hashimoto’s thyroiditis (HT) pathogenesis remains controversial. In this study, we investigated whether a constitutive IL-4 overexpression in the thyroid tissue (Thyr-IL4) could influence the development of thyroiditis in resistant (C57BL/6) or susceptible (NOD.H2h4) mouse strains.<...

Objective: The study is aimed to estimate the effectiveness of kinesiotherapy based on deep core stability muscles training in the program of rehabilitation in patients with osteoporotic vertebral fractures (VF).Material and methods: Fourty-five patients (M-4, F-41) aged 43-81 (average age 62.75±12.5) with primary osteoporosis and at least one non-traumatic VF were included in the study. The rehabilitation program focused on training of deep core st...

Introduction: The normal development of the female reproductive tract depends on the interaction between genetic, hormonal and environmental factors for the differentiation of the Müller Wolff ducts, and the urogenital sinusCase report: 16-year-old female, single, school student presented to our endocrine department complaining of delayed puberty. The patient was delivered by normal vaginal delivery, no history of anosmia or hearing defects There is...

Introduction: Graves’s disease is an autoimmune condition both cell and antibody-mediated, which is associated with thyrotoxicosis and extra thyroid features.Case report: A 35-year-old female presented with symptomatic hyperthyroidism due to graves thyrotoxicosis. She developed adverse reactions, including severe dermatitis and hepatotoxicity, to two of the thionamide drugs (carbimazole and propylthiouracil). Eventually we decided for definitive tre...

Introduction: In end-stage renal disease (ESRD), thyroid function tests are often abnormal, and their interpretation is not always straightforward. While haemodialysis (HD) procedure has well-established profound effects on the serum levels of a variety of molecules no such data have been published on thyroid hormones.Methods: In 110 ESRD patients, total and free thyroxine (T4 and fT4), total and free triiodothyronine (T3...