ESPE Abstracts

Background: Hypoparathyroidism is a rare disease characterized by inadequate parathyroid hormone (PTH), resulting in hypocalcemia and hyperphosphatemia. Hypoparathyroidism can be transient, inherited, or acquired, and is caused by inability to synthesize or secrete PTH, abnormal parathyroid gland development, destruction of parathyroid tissue, or peripheral resistance to PTH.Methods: Medical records from 20 children and adolescents diagnosed with hypopar...

Background: Co-occurrence of type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) denote variant of autoimmune polyglandular syndrome type 3 (APS3v). Thyroid autoimmunity in T1D was widely studied, but a few studies examined β-cell autoimmunity among AITD patients. Several susceptibility genes for APS3v have been identified: HLA class II, CTLA-4 and PTPN22 gene.Objective and hypotheses: To investigate β-cell autoimmunity and genetic poly...

Background: Autoimmune polyglandular syndromes (APS) is a group of heterogeneous conditions characterized by the association of at least two organ-specific disorders, concerning both endocrine and non-endocrine organs. On the basis of the clinical features, they are divided into four main types. Type III is defined as the combination of autoimmune thyroid disease and other autoimmune condition – divided into subtypes A, B and C.Objective and hypothe...

Background: Fibroblast growth factor 21 (FGF21) is one of the FGF superfamily, which regulates energy expenditure, glucose metabolism and lipid metabolism. FGF21 elevates of glucose uptake in peripheral tissues, and regulates body temperature in brown adipose tissue.Objective and hypotheses: This study is to reveal which endocrine diseases in children has elevation of FGF21.Method: We collected blood from 253 endocrine diseases in ...

Background: The Toll-like receptors (TLRs) are germline-encoded receptors that play an essential role in initiating the immune response against pathogens.Objective and hypotheses: In this study, we assess the association of TLR polymorphism with autoimmune thyroid disease (AITD) in Korean children.Method: Seven Toll-like receptor genes (TLR-1, -2, -3, -4, -5, -6, -9) including 15 single-nucleotide polymor...

Background: In Autoimmune Thyroid Disease (AITD) two types of TSH receptor antibodies (TSHR-Ab) may be distinguished: thyroid- stimulating immunoglobulin (TSI) that promotes the production of thyroid hormones and thyroid- blocking immunoglobulin (TBI) inhibiting the activity of TSH what leads contrarily to hypothyroidism.Objective and hypotheses: The aim of this study was to compare mean TSI and TBI levels in large paediatric cohort with AITD and control...

Background: Patients with Down’s syndrome have an increased prevalence of autoimmune disorders affecting both endocrine and non endocrine organs. The commonest autoimmune disease is related to the thyroid gland.Objective and hypotheses: To describe a child with down’s syndrome who has been treated of hypothyroidism But converted to hyperthyroidism few years later.Method: A 5-year old boy with Down’s syndrome presente...

Background: Autoimmune polyglandular syndrome type 3 (APS3) comprises a wide spectrum of autoimmune endocrine disorders other than adrenal insufficiency. It includes the association of autoimmune thyroid disease (ATD) with type 1 diabetes (T1D) which is known as APS3 variant (APSA3v). Genes linked to possible joint susceptibility for APS3v have been reported in few cases. We report a 10-year-old girl with Graves’ disease (GD) who developed T1D after 6 years of the diagnos...

Background: Autoimmune’s thyroiditis (AT) is the most common cause of thyroid diseases in children and adolescents with a peak in early to mid-puberty (prevalence of 0.3–1.2%). Previous studies showed a high rates of familiarity for autoimmune disease (AD) and co-existing autoimmunity in AT subjects.Objective and hypotheses: Aim of our study is to investigate familiarity for AD and co-existing autoimmunity in a large cohort of pediatric AT pati...

Background: Neonatal thyrotoxicosis, a rare and life-threatening condition, is caused by transplacental transfer of thyroid stimulating immunoglobulins from mother to infant. While clinical features may include goitre, prominent eyes and poor weight gain, these may be absent in some cases. Early diagnosis and treatment of affected infants is critical.Objective: We report a case series of infants with neonatal thyrotoxicosis from two tertiary paediatric h...