ESPE Abstracts

Background: Both genetic and environmental factors serve as the trigger of Hashimoto's thyroiditis (HT), but the exact mechanisms are still not fully understood. Increased intestinal permeability was shown to be a constant and early feature of several autoimmune disorders. Although HT is the most common autoimmune disorder worldwide, the role of intestinal permeability in its pathogenesis had received little attention. Human zonulin modulates intracellular...

Introduction: DICER1 syndrome is a pleotropic, autosomal dominant familial genetic tumor predisposition syndrome. DICER1 somatic + germ-line mutations (double hit hypothesis); cystic nephroma; pleuropulmonerblastoma, ovarian sex cord-stromal tumors, multinodular goitre (MNG) are associated with many conditions such as differentiated thyroid cancer, pituitary blastoma. We presented three cases, two of whom were siblings, who had been consulted because of no...

Backgrounds/Aims: Studies related to changes in thyroid hormone metabolism in the course of chronic liver diseases have been conducted mostly in adults. In this study, we aimed to investigate the thyroid dysfunction in childhood chronic liver diseases.Methods: Between 2005 and 2018, 960 chronic liver disease patient file that followed in our gastroenterology department are reviewed. Among all study subjects, 107 (53 fema...

Background: Thyroid hormones act via receptors (TRα; TRβ) encoded by separate genes (THRA, THRB). Mutations in THRA are a recently-recognised cause of Resistance to Thyroid Hormone alpha (RTHα), a disorder with tissue-specific hypothyroidism but near-normal thyroid function tests.Aim: We describe the youngest recorded case of RTHa, in a 2yr old boy with disproportionate short stature, ...

Introduction: Individuals with type 1 diabetes (T1D) are at higher risk of developing other autoimmune disease, including autoimmune thyroid diseases (AITD). The incidence of Hashimoto among people with T1D varies between 8 and 50%, depending on gender, age and ethnicity.Aim: To evaluate prevalence of anti-thyroid peroxidase (anti-TPO) and its correlation to the presence of thyroid dysfunction in children and adults ...

Background: Neonatal hyperthyrotropinaemia (HT) is defined by elevated thyroid stimulating hormone (TSH) and normal free-thyroxine (FT4) level. Persistent HT in the neonatal period is often a diagnostic dilemma for clinicians to either treat to prevent subclinical hypothyroidism or to wait and monitor thyroid function tests (TFTs).Methods: As part of an audit, 1,449 term infants who had TFTs undertaken as part of a prolo...

Introduction: The prevalence of thyroid peroxidase antibody (anti-TPO) positivity is estimated to be around 3-4% in healthy children and is remarkably higher in children with type 1 diabetes (T1D). However, anti-TPO positivity in children with HLA-conferred susceptibility to T1D who are not yet diagnosed with T1D, is not well studied. The aim of this study was to describe the prevalence of positive anti-TPO and its effect of thyroid function in children wi...

Background: Congenital hypothyroidism (CH) can be categorized into two types: transient CH (group T) and permanent CH (group P). Several studies have recently demonstrated that the levothyroxine (LT4) dosage is useful for predicting LT4 requirement; however, none of the studies followed up their patients to puberty.Objective: To determine the cutoff value for the LT4 dosage as a predictor of LT4 requirement after puberty...

Background: Thyroid hormone resistance (THR) is a rare genetic disorder that may be caused by thyroid hormone (TH) cell transporter defects or metabolism defects, but most cases are caused by an inherited mutation in the TH receptor beta (THRB) gene. The reduced responsiveness of target tissues to TH is characterized by elevated TH and a normal or elevated thyroid-stimulating hormone (TSH) level. Differentiating between THR and TSH-producing pituitary...

Background: Congenital hypothyroidism (CH) is the commonest congenital endocrine disorder and the primary cause of treatable mental retardation. In low-income countries lacking newborn screening programs, CH remains a serious public health problem.Objective: To investigate the characteristics at diagnosis and clinical outcome of patients with CH in Algeria; and determine factors related to psychomotor development.<p ...

Background: Hashimito's Thyroiditis is influenced by genetic and environmental factors. Interleukin-2 receptor alpha chain (IL2RA) gene polymorphism and Cytotoxic T-lymphocyte antigen 4 (CTLA 4) gene polymorphism are known to be associated with HT, but have not been established in a Caucasian children population yet. The Fas Apoptotic Inhibitory Molecule 2 (FAIM2) gene polymorphisms impact on the development of HT in children has not been reported yet....

Background and Objectives: Enlargement and cystic changes in ovaries of patients with longstanding overt hypothyroidism has been observed in numerous case reports. But there is limited data about the effect of subclinical hypothyroidism (SH) on ovarian volume and ovarian cyst formation. We evaluated the relationship between serum thyroid stimulating hormone (TSH) level and ovarian volume and sonographic appearance in prepubertal girls with SH.<p class="abs...

Context: Delayed TSH elevation (dTSH) is defined as elevated TSH in the second neonatal screen following normal TSH in the initial screen. The clinical outcome of newborns with dTSH is not entirely elucidated, although several studies have suggested a full recovery in most cases.Objective: We aim to elucidate the natural history of dTSH in a group of neonatal intensive care newborns. In addition, we aim to define clinica...