ESPE Abstracts

Graves’ disease (GD) is hyperthyroidism associated with organ-specific autoimmune inflammation. GD occurs more frequently in adults than in children, however, pediatric patients are a therapeutic challenge due to cycles of remissions and relapses requiring constant monitoring at every stage of treatment administered. Dendritic cells (DCs) are considered a link between innate and adaptive immunity. DCs as antigen-presenting cells (APCs) are involved in antigen presentatio...

Introduction: Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism caused by an activating variant of the thyroid stimulating hormone receptor (TSHR) gene. This disorder may occur as a result of an autosomal dominant inheritance or sporadically through de novo variation. The severity of hyperthyroid symptoms is variable and phenotype differences have been described in subjects harbouring the same mutati...

Introduction: The precise pathogenesis of Graves’ disease (GD) still remains unclear, especially in the field of immunological aspects. Thyroid infiltration by reactive T and B lymphocytes plays a crucial role in the course of autoimmune thyroid diseases (ATD). Previous pattern of inflammation process was characterized by the presence of two antagonistic groups of T effector or also called- helper cells: Th1 and Th2. Recently, more attention is paid to T...

Backround: Cases diagnosed with congenital hypothyroidism are considered to be at risk of thyroid nodule formation and subsequent thyroid carcinoma due to TSH overstimulation. Few cases has been reported hitherto. We are presenting two siblings diagnosed with congenital hypothyroidism due to dyshormogenesis who developed thyroid papillary carcinoma during follow up.Case presentation: Case 1 was born at term as the first ...

Introduction: Congenital hypothyroidism (CH) is classified as permanent CH (PCH) if levothyroxine (LT4) is life-long required, or as transient CH (TCH) if after LT4 discontinuation thyroid function remains normal. Early detection of TCH allows early discontinuation of LT4.Purposes: To identify predictors of TCH and PCH, and their cut-off value.Subjects and Methods: Retrospective st...

Introduction: Thyroid cancer is rare in the pediatric population, but the incidence is increasing every year. Thyroid nodules are known to be less common in children than in adult, but it is one of the most common endocrine malignancies in the pediatric population. The tumor can develop at any age, but is more common in adolescence and is the second most common tumor in adolescents. Differentiated thyroid carcinoma includes two different types, papillary thyro...

Iodine is the most important element in thyroid function. Its deficiency and excess can cause hypothyroidism. Our location has been known as the iodine deficiency area for the last 20 years. In this study, we aimed to investigate thyroid dysfunction and assess its relationship with iodine levels in the neonatal period.Method: One hundred and seventy newborns were included in the study. Infants were selected from patients referred to for ...

Background: Sjogren’s syndrome is a systemic autoimmune disease, and it is rare in pediatric population. Primary symptoms are dry mouth and dry eyes. However, it may present with systemic manifestations, involving lungs, liver, kidneys, vasculature, and blood. We report a case of Sjogren's syndrome with systemic involvement in a child with Graves' disease.Case report: A 9-year-old 11-month-old girl presen...

Cribiform Papillary Thyroid Carcinoma has low prevalence. Our objective is to present a case and to emphasize future implications. We present a female 14.9 years old patient with PWS (del 15 q11-13 by methylation test) with a history of asthma, hepatic steatosis, increased Waist-to-Height ratio, HbA1c 5.86 % and C-Peptide 3.64 ng/mL. She had primary hypotiroidism since 7 years old treated with 25 mg/ day of levothyroxine and impaired fasting glucose since 10 years old with a B...

Hypothyroidism is the most common thyroid disorder in children. It usually presents with nonspecific symptoms, that can be mild and occur slowly over time, compromising a timely diagnosis, with possible effects on pituitary gland, multiple organs and growth. In case of long-standing unrecognized hypothyroidism, myxedema or myxedema coma can occur, rare but severe conditions. This case report describes an adolescent presenting with extensive trunk and neck swelling. After exclu...

Introduction: Thyroid nodules occur in 1.8% children which is not so often in comparison to adults (19–68%), but in children they appear to be at higher risk of malignancy (22–26% vs.5–10% respectively). It has been shown that the probability of thyroid nodules malignancy correlates with the presence of characteristic ultrasonographic features. Elastography - the noninvasive ultrasound imaging technique based on estimation of the tissue flexi...

Introduction: Thyroid diseases are among the most common endocrine disorders affecting children and adolescents. These conditions are often associated with a wide range of skin disorders such as xerosis, mixedema, hypohidrosis, eczema, and more rarely hypertrichosis.Case: A 5-year-old female child was referred to our clinic due to short stature, Cushingoid appearance and marked hypertrichosis. At birth length and weight ...

Background: Graves' disease is a rare autoimmune disorder in children. Its incidence is 0.1/100,000 person-years in young children and 3/100,000 person-years in adolescents. It is related to the production of TSH-stimulating autoantibodies occurring on a particular genetic predisposition. The particularity of Graves' disease in children is the risk of relapse after medical treatment, which is more frequent than in adults with a frequency of around 30...

Introduction: There is a known interaction between kidney and thyroid functions for years. In steroid resistant nephrotic syndrome (SRNS), protracted proteinuria is a characteristic feature of SRNS that leads to loss of thyroxine binding globulin and albumin resulting in low level of thyroid hormones. Furthermore, the long duration of proteinuria in patients with SRNS might damage the renal tubules leading to reduced absorption of low molecular weight proteins...

Introduction: Van Wyk Grumbach Syndrome (VWGS) is characterized by untreated severe hypothyroidism, isosexual precocious puberty, multiple ovarian cysts and delayed bone age. The disorder is most likely due to complex interactions of the hormonal axis; (1) excess TSH stimulates the FSH-receptor, (2) pituitary enlargement and hyperstimulation, (3) secondary ovarian hyperstimulation. Although it is extremely rare, it is important to recognize before the unnecess...

An 11-year-old female presents with a 6-week history of double and blurred vision associated with headaches and neck swelling. Thyroid function tests demonstrated antibody negative hypothyroidism and connective tissue disorder screening was negative. The patient was commenced on thyroid hormone replacement (levothyroxine). 5 days later, she re-presented with strabismus and progressive diplopia. Intracranial imaging was performed to rule out space occupying masses. A diagnosis ...

The syndrome of thyroid hormone resistance (THR), is an inherited condition that occurs in 1 of 40,000 live births characterized by a reduced responsiveness of target tissues to thyroid hormone due to mutations on the thyroid hormone receptor. We report the case of a girl who presented at 18 months of age with growth retardation persistent tachycardia and chronic diarrhea, serology testing for coeliac disease was negative. Serum levels of total and free T4 and T3 were elevated...

Purpose: The purpose of this study was to retrospectively analyze the clinical, laboratory, imaging findings (sonography and Tc99m-pertechnetate scanning) in patient with congenital hypothyroidism (CH) who completed 3 years of LT4 medication.Method: 86 patients with congenital hypothyroidism were retrospectively reviewed. Medical history, laboratory, radiologic finding at the time of CH diagnosis were evaluated. Correlat...

Introduction: Congenital hypothyroidism (CH) is diagnosed with neonatal screening and treated early in the neonatal period. Among these patients, transient congenital hypothyroidism (TCH) is included and requires re-evaluation. In this study, we aimed to identify factors that would allow discrimination between permanent and transient hypothyroidism in patients with eutopic thyroid gland.Methods: We retrospectively analyz...

Introduction: Hypothyroidism is the commonest endocrine disorder which associates with Trisomy 21. It affects the physical and intellectual development of children. It can be either congenital or acquired.Case report: 9 years old boy diagnosed patient with Trisomy 21; presented with the complaint of bowel not opened for 3 weeks and grossly distended abdomen. On the day of admission, he had low-grade fever and settled wit...

Introduction: Thyroid autoimmunity in chronic urticaria is a growing process and maybe manifested before concomitant with, or several years after the appearance of the urticaria. The association of chronic urticaria with autoimmune thyroid disease has frequently been reported in adults. Limited cases have been reported in children.Case Report: Here we describe an eleven years old girl. Who was born to non-consanguineous ...

Introduction: Down Syndrome (DS) is a genetic disorder that has a high mortality rate and a large number of comorbidities such as hypothyroidism and heart disease. Thyroid hormones have significant effects on cardiovascular. This study aims to describe thyroid function and congenital heart defects in Down Syndrome children at dr. Hasan Sadikin General Hospital.Methods: This is a cross-sectional study. The inclusion crite...