ESPE Abstracts

Background: Chronic autoimmune thyroiditis (cAIT) leads to hypothyroidism due to T cell-mediated cytotoxicity in most cases. By contrast, Graves’ disease (GD) with thyrotropin receptor stimulatory autoantibodies cause hyperthyroidism. OPG a cytokine receptor which mediates suppressive effect on osteoclastogenesis is a key regulator of inflammation and may be a link between bone, autoimmune disease and vasculature.Objective and hypotheses: Cytokines ...

Background: Only few studies have focused on neurosensory hearing function of patients with congenital hypothyroidism (CH) identified by CH screening programs and treated early and, therefore, this issue remains still controversial.Objective and hypotheses: The aim of this study was to ascertain whether an early and adequate replacement treatment may be able to prevent sensorineural hearing loss in 32 screened children with CH and no associated risk fact...

Background: Recent guidelines recommend levothyroxine (LT4) monotherapy for all infants with congenital hypothyroidism (CH). However, up to one-third of patients have pituitary resistance to thyroid hormone and, to normalize their TSH, require supranormal circulating levels of T4. Liothyronine (T3) has been proposed as a supplemental therapy for such patients, but data demonstrating its use and efficacy are limited.Object...

Background: Hypothyroidism may be also a rare cause of acquired hypoceruloplasminemia. It has recently been underlined a role for thyroid hormone in the normal developmental regulation of ceruloplasmin (cp).Case presentation: A 3-year-old Caucasian girl was admitted to our clinic for recurrent pericarditis, fatigue and muscle weakness. Her family history was remarkable for Hashimoto’s thyroiditis and Graves disease. Her recent personal history was s...

Background: The pituitary set-point for TSH synthesis and secretion is known to be an individual parameter with a strong genetic influence. Type II iodothyronine deiodinase is a pituitary enzyme involved in local deiodination of T4 and negative feed-back loop for TSH secretion. Defects in DIO2 have not been reported in humans; however, Dio2 knockout mouse has pituitary resistance to T4 with elevated TSH, T4 and TSH/T4 ratio, with nor...

Background: Congenital hypothyroidism (CH) is a condition that characterize by the deficiency in thyroid hormone. CH has a proximate prevalence of one in 4 000 newborns. Major CH cases were reported to be linked with mutations in TSHR, PAX8, NKX2.1, NKX2.5 and FOXE1 genes.Objective and hypotheses: The clinical presentation of CH patients caused by PAX8 mutations are variable and PAX8 mutation rates differ significantly among different p...

Background: The intelligence prognosis of congenital hypothyroidism (CH) is remarkably improved by early detection and optimal levothyroxine (LT4) treatment. Some groups have reported that initial LT4 overtreatment results in a subsequent decrease of cognitive function. In universal guidelines, an initial dose of 10–15 μg/kg per day of LT4 is recommended. However, there are cases of LT4 overdosing.Obj...

Background: Establishing thyroid size as large, normal or small in newborn infants with TSH elevation and in situ thyroid is important for diagnosis and informing molecular genetic studies.Objective and hypotheses: To compare intra-observer variation in the objective (Ox) measurement of thyroid volume (vol) by ultrasound (US); and the correlation between subjective (Sx) and Ox assessment.Method: Joint blinded retrospective...

Background: Central hypothyroidism (CH) is caused by TSH and/or TRH deficiency leading to hypothyroxinemia with low, normal or mildly elevated TSH levels. Differentiation of CH with mildly elevated TSH levels from primary hypothyroidism (PH) can be difficult. However, this differentiation has important clinical implications (i.e. cortisol replacement before L-thyroxine).Objective and hypotheses: In this study, we constructed a nomogram all...

Background: Serum sickness should be considered for the symptoms such as fever, arthralgia and urticaria existing 2–3 weeks after drug administration. Serum sickness is prototype of type 3 hypersensitivity reactions. Nephropathy and vasculitis may occur and main finding is hypocomplementemia. Several drugs such as antibiotics were reported as the reason of serum sickness disease.Objective and hypotheses: According to our knowledge, herein we report ...

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, Fc receptor-like 3 (FCRL3) gene, Fas apoptotic inhibitory molecule 2 (FAIM2) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association of polymorphi...

Background: Thyroid dysfunction is a common condition in children and has been associated with metabolic syndrome, hypertension, cardiovascular disease and mortality. Due to the obesity epidemic in paediatric population exists a higher prevalence of nonalcoholic fatty liver disease (NAFLD), a condition associated with insulin resistance and metabolic syndrome. In adults it has been observed that elevated TSH, even within the normal range, are positively correlated with increas...

Background: Congenital hyperthyroidism is a rare disease. In most patients with congenital hyperthyroidism are autoimmune forms caused by maternal thyroid-stimulating antibodies. In contrast to autoimmune hyperthyroidism that is transient, nonautoimmune form of congenital hyperthyroidism is persistent and results from activating germline mutations in the thyrotropin receptor (TSHR) gene.Case presentation: We report the case of a Korean male infant with s...

Background: Treatment of congenital primary hypothyroidism (CPHT) fluctuates between two opposite risks for the neuro-cognitive development in a critical window during the neonatal period, under- and over-treatment.Objective: To investigate the relevance of current international recommendations of 10–15 μg/kg per day for L-thyroxine (lT4) doses in CPHT.Method: fT4 and TSH were measured...

Background: During the last years, it has been sporadically reported that Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) may follow one another in the same individuals, due to a sequential phenotypic conversion from GD to HT or vice versa.Objective and hypotheses: To shed further light on the specific relationships between Down syndrome (DS) and metamorphic thyroid autoimmunity.Method: We have reconstructed the con...

Background: Autoimmune thyroid disease (AITD) is the most common organ-specific autoimmune disorder. Genetic background, environmental and endogenous factors are play important roles in determining the activation of immune cells or the efficacy of the immunoregulatory pathways. Recently emphasizes the immunosuppressive role of B regulatory cells (phenotype CD19+CD24hiCD27+IL-10+, CD19+IL-10+) in regulation of immune respon...

Background: Thyroid hormone resistance (THR) is an autosomal dominant, rare syndrome and result of the reduction sensitivity of target tissues to thyroid hormone. There is usually normal or slightly elevated TSH concentration with increase in serum fT3 and fT4 concentrations. The most common cause of resistance to thyroid hormone (RTH) is heterozygous thyroid hormone β (THR β) gene mutations. THR is defined by Refetoff et al. at 1967. THR mutati...

Background: Congenital hypothyroidism (CH) is the most frequent endocrine disorder during neonatal period and delay in diagnosis and treatment leads to irreversible complications. A high L-thyroxine (LT4) dose is recommended for treatment, while the optimal starting dose is still a matter of debate.Objective and hypotheses: The objective of this study was to determine the effects of various starting doses of LT4 on se...

Background: Hypothyroidism has been associated with cognitive and motor impairments, the degree to which mild hypothyroidism, or subclinical hypothyroidism impacts mood and cognitive functions and whether these symptoms respond to treatment, remains controversial. Furthermore, hypothyroidism is associated with an increased susceptibility to depression and reductions in health-related quality of life.Objective and hypotheses: Recent longitudinal studies s...

Background: Iodotyrosine deiodinase (DEHAL1) is a thyroidal enzyme that deiodinates mono- and diiodtyrosines (MIT, DIT) and recycles iodine, essential for synthesis of thyroid hormone. Iodotyrosine deiodinase deficiency leads to hypothyroidism, goiter and variable mental retardation. The age for clinical onset was reportedly very diverse, allegedly related to individual iodine nutrition.Clinical case: We report on a boy, offspring of consanguineous paren...

Background: Congenital hypothyroidism (CH) is a common endocrine disorder with a prevalence ranging from 1:2000 to 1:4000 newborns. The majority of CH cases were reported to be associated with mutations in several genes, which including the TSH receptor gene (TSHR).Objective and hypotheses: The aim of this study is to examine the frequency of TSHR gene mutations among CH patients in the Guangxi Zhuang Autonomous Region of China and to discover correlatio...

Purpose: Aetiologies of congenital hypothyroidism (CH) in newborn period are various, and TSH receptor (TSHR) mutation is known as one of them. We evaluated mutational analysis of the gene TSHR and clinical characteristics in the patients with CH or neonatal hyperthyrotropinemia.Method: Mutation analysis was done in 96 children with CH or transient hyperthyrotropinemia who has been managed at the Department of Pediatrics in Dankook University Hospital. C...

Background: Delayed TSH elevation (dTSH) is defined by normal TSH on the initial neonatal screening followed by elevated TSH on the second screen. Several studies concluded that dTSH is associated with low birth weight (BW) and is mostly transient.Objective and hypotheses: To elucidate clinical characteristics of dTSH in a large cohort of neonatal intensive care unit (NICU) newborns.Method: Clinical data were gathered from a cohort...

Background: As newborn screening test (NST) became popular, the incidence of congenital hypothyroidism (CH) was raised. But not all CH children require lifelong levothyroxine (LT4) replacement therapy.Objective and hypotheses: We aimed to analyse predicting factors suggesting transient CH (TCH) compared to permanent CH (PCH) or transient thyroid function test (TFT) abnormality who had a positive screening results in our centers for the past de...

Background: Despite neonatal screening, children with congenital hypothyroidism (CH) may still display behavioural problems such as inattention, distractibility, hyperactivity and restlessness.Objective and hypotheses: The aim of present study was to evaluate attention and sluggish cognitive tempo (SCT) symptoms in 32 children with CH compared to 32 matched healthy controls.Method: The study population consisted of 32 CH children a...

Background: Phthalates are industrial chemicals extensively used as plasticizers in a variety of commercial products. Di-(2-ethylhexyl) phthalate (DEHP) is one of the most frequently used phthalates. DEHP is readily metabolized to mono-(2-ethylhexyl) phthalate (MEHP), which is more toxic than its parent compound. There are some animal and in vitro studies suggesting that phthalates can disrupt hypothalamus-pituitary-thyroid axis.Objective and hy...

Background: Osteoprotegerin (OPG) is a cytokine of the tumour necrosis factor receptor family, expressed in various cells types of the body including osteoblasts and endothelial cells. It acts as a soluble decoy receptor of RANK ligand preventing stimulation of osteoclastogenesis. In adults, subclinical hypothyroidism (SH) has been associated with cardiovascular complications. Furthermore several studies have linked OPG levels to increased cardiovascular risk.<p class="abs...

Background: Allan-Herndon-Dudley syndrome (AHDS) is an x-linked mental retardation syndrome characterized by severe psychomotor retardation and pathognomonic thyroid parameters. Defects in monocarboxylate transporter 8 (MCT8), which facilitates thyroid hormone (TH) uptake and efflux across plasma membranes, have been linked to this disease. The incidence of undescended testes was reported to be 8% by Schwartz et al. On the other hand, we had the impression that cryptorchidism ...

Background: There is currently an inadequate number of studies on nodule and malignancy development in children and adolescents with Hashimoto thyroiditis (HT).The aim of our study was to determine the rate of thyroid nodules and the nodule malignancy rate in our pediatric HT patients.Material and methods: Patients who were diagnosed with HT between 2004 and 2013 were included in the study. The HT diagnosis was made with the elevation of anti-TPO and ant...

Background: Thyroid cancer is a very rare malignancy of childhood. Approximately they account for 1.5% of all cancers before 15 years of age. In our country, this rate is %0.4 before 20 years of age.Aims and objectives: To analyses the clinical features and treatment results of children with thyroid malignancy in Turkey.Methods: In this multicentric and retrospective study the demographic and clinical characteristics of 124 childre...