ESPE Abstracts

Background: Among autoimmune disorders, autoimmune thyroid diseases are the most prevalent pathologies associated with premature ovarian failure.Objective and hypotheses: We aimed to investigate the ovarian function and reserve in euthyroid adolescents (TSH<2.5 mIU/l) diagnosed with Hashimoto thyroiditis (HT).Method: 30 adolescent girls (mean age 15.1±1.4 years) newly diagnosed as HT with presence of high thyroid antibodie...

Background: Genes in the HLA region confer about 50% of the genetic risk of type 1 diabetes (T1DM). More than 40 different genes give a minor contribution to T1DM risk, some of them are related to the immune function.Case presentation: A girl was referred at the age of 9 months with severe ketoacidosis in T1DM at onset. Anti-insulin autoantibodies were positive. She was the only daughter of unrelated Caucasian parents, born at term by vaginal delivery. T...

Background: Autoimmune thyroid disease (AITD), including autoimmune thyroiditis (AT) and Graves’ disease (GD), is a complex autoimmune disease with a strong genetic component. The cytotoxic product of T-lymphocyte antigen-4 (CTLA4) gene, encoding a negative regulator of the T-lymphocyte immune response, was shown to be associated to AITD.Objective and hypotheses: To investigate the association of A49G and C60T polymorphisms of CTLA4 gene in populati...

Background: Autoimmune polyendocrine syndrome type 2 (APS2) is a complex disorder characterised by the obligatory occurrence of Addison disease in combination with thyroid autoimmune disorder and/or type 1 diabetes. APS 2 is the most common autoimmune polyendocrine syndrome and is primarily manifest in adult age. Premature ovarian failure (POF) is defined as sustained amenorrhea before the age of 40 years, FSH levels higher than 40 UI/l and hypoestrogenism associated with infe...

Background: Patients with type 1 diabetes (T1DM) are at a high risk of having other autoimmunological diseases. The most common coexisting disease is autoimmune thyroiditis, which is diagnosed in 15–30% diabetic patients. The incidence of the disease depends on the age, sex, and duration of T1DM.Aims and objectives: This study aims to assess the prevalence of anti-thyroid peroxidase antibodies and anti-thyroglobulin antibodies in children with newly...

Background: Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), is a rare inherited disease of childhood, caused by the mutation of the AIRE gene on chromosome 21. It is characterized by three main diseases: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (HP), and Addison’s disease (AD), and can be associated with other autoimmune diseases and/or manifestations of ectodermal dystrophy.Case...

Background: Stevens-Johnson syndrome (SJS) is an acute life-threatening dermatosis characterised by conjunctivitis, oral ulcerations, fever, and erythematous macules. The most important etiological factors are infections and drugs including anticonvulsants and nonsteroidal anti- inflammatories.Objective and hypotheses: Cases with both SJS and type 1 diabetes mellitus have been reported rarely in the literature. Herein, we report a diabetic case of recurr...

Background: Aetiologic causes should be evaluated in patients with central diabetes insipidus. Inflammatory and malign diseases must be exclude.Objective and hypotheses: A 9-year-old girl suffered from polyuria and polydipsia was diagnosed CDI. Adenohypohysis height and infudibulum thickness were increased 8 and 9 mm respectively. Physical findings were consistent with Tanner stage 1, height SDS −0.48, and BMI 91 percentile. Tumor markers and adeno...

Background and aims: To investigate the functional status of the thyroid gland in children with diabetes mellitus type 1.Materials and methods: In the study were included 29 (13 boys, mean age 11.3±2.7 years) patients with diabetes mellitus type 1 from iodine deficient region. The examination included thyroid ultrasound and assessment of the functional state of the thyroid system: thyroid-stimulating hormone (TSH), fT4, fT3, th...

Background: A disease of the immune system, responsible for 95% of cases of hyperthyroidism in children is very rare at this age, it affects one child in 10 million.Presentation: Khadija 3 year old girl admitted for goiter, no goitrogenic substances No drug Shot, No Inbreeding, goiter paternal aunt, The trouble was in the beginning 1 year a height and weight advance:+1 DS weight, height+3.2 DS, weakness, weight loss, Profuse sweating, tachycardia, irrita...

Background: PEA is a rare disease characterised by the coexistence of two endocrine autoimmune deficiencies, sometimes with a non-endocrine autoimmune disease associated concomittente of occurrence or metachronous way. Depending on the age of onset of the disease and the characteristics observed, we can distinguish several subgroups.Objective and hypotheses: Search frequency of PEA in children and adolescents and study their phenotype.<p class="abste...