Endocrine Abstracts

Introduction: CAH is among the most common inherited metabolic disturbances, caused by Ar mutations of genes that encode enzymes involved in the adrenal steroids synthesis. Male hypogonadism and CKD can complicate the course of CAH. Additionally, HD can influence the CAH management by unpredictable effects of ultrafiltration on the levels of administered drugs. The aim of our study is to demonstrate the influence of HD on LH/T levels of eugonadal male as well hypogonadal male ...

The exact pathogenesis and causative interaction between T- and B-lymphocytes in peripheral blood and thyroid gland immune-mediated mechanisms of Graves disease (GD) are still unknown. Detailed knowledge about lymphocyte subpopulation composition in peripheral blood and thyroid tissue will therefore enhance our understanding of the pathogenesis of GD and might support the development of new immunomodulatory treatment approaches. Aim: to study the relationship between helper- (...

Introduction: CD8+ T-cell deficiency is a feature of many chronic autoimmune diseases. Its association with vitamin D deficiency was described and it has been suggested that vitamin d deficiency contribute to the increase of the incidence and the progression of autoimmune diseases.Herein we report a case of hypopituitarism and vitamin D deficiency in a patient with CD8+ T-cell deficiency.Observation: A 28-year-old woman was...

Objectives: In Graves’ disease (GD) and Graves’ orbitopathy (GO) self-reactive lymphocytes escape immune tolerance, although the underlying mechanisms are not fully understood. We aimed to characterize the immune signatures of target tissue-resident lymphocytes in relation to GD and GO.Methods: Lymphocytes were derived from blood and ultrasound-guided-fine-needle aspiration (US-FNA) of thyroid and neck lymph nodes (LNs) of the following patient...

Introduction: Decrease in thyroid hormones (TH) levels is associated with reduced blood flow to kidneys and decreased glomerular filtration rate (GFR) along with alteration of tubular reabsorption.Deiodinase type 1 is an enzyme that is active in liver and kidneys and plays an important role in TH metabolism.The aim of the research was to study the dependence of markers of renal function on C/T polymorphism in the DIO 1 gene in pati...

Adrenal Lymphoma is extremely rare with fewer than 200 cases reported. The most common subtype is the diffuse large B cell lymphoma. Malignant lymphoma arising in the endocrine glands represents only 3% of extranodal malignant lymphomas and is usually confined to the thyroid gland. NK/T-cell lymphoma presents primarily in the nasopharynx and sinuses. Although involvement of the adrenal glands can be seen in disseminated disease, primary presentation with adrenal masses and adr...

Dysregulated T helper cells and vitamin D (VD) deficiency are important factors in the pathogenesis of Type 1 diabetes mellitus (T1D). Therefore, we investigated the immune effects of high dose VD-treatment on gene expression (GE) pattern in T helper cells (Th) before and after VD-therapy in patients with T1D.Methods: Seven T1D patients with 25(OH)D3 levels below 20 ng/ml received 3 months 4000 IU/d Vigantol oil. The 25(OH)D3 plasma...

Graves’ disease (GD) has been recognised for more than 100 years, its pathophysiological mechanisms are incompletely understood.Aim: To investigate the helper- (Th-cells) and regulatory T-cells (Treg) influence on B-lymphocytes phenotypic composition of blood and thyroid tissue in GD.Materials and methods: The study included 43 women with GD, mean age 39.95±14.38, who were performed the epifascial thyroidectomy and 67 hea...

BackgroundAutosomal dominant hypocalcaemia, caused by either inherited or de novo mutations in calcium-sensing receptor gene (CASR), is biochemically characterized by the presence of hypocalcaemia, hypercalciuria and inappropriately low levels of PTH. Receptor-activating mutations induce an increase sensitivity to calcium by parathyroid and renal cells, leading to suppression of PTH synthesis and consequently hypocalcaemia. Clinical manifestations are va...

Familial hypopituitarism is a heterogeneous group of disorders with variable clinical, biochemical and genetic characteristics. X-linked forms have been described in rare kindreds, though clinical and molecular features are not well defined. We present a case of X-linked hypopituitarism in a young male.The patient, currently 39 years, had an early course complicated by neonatal jaundice, seizures and subsequent failure to thrive. Hypothyroidism was diagn...