ESPE Abstracts

Background: Congenital goitre presenting in the newborn period is very rare. Here we present a case of congenital hypothyroidism with a large goitre, leading to trachea compression symptoms. Hormone replacement therapy was started leading to normal levels of TSH, FT4, and thyroid volume. In face of maternal normal thyroid levels, dyshormonogenesis considered to be the most probable cause of hypothyroidism.Case presentation: A male full term ne...

Background: Thyrotoxicosis in neonates is a life-threatening condition that can be associated with lasting neurologic problems. Most cases are seen in neonates born to mothers with Graves’ disease in which thyroid stimulating immunoglobulin (TSI) is transferred to the foetus and results in hyperthyroidism. Hypothyroidism due to topical iodine use has been reported in neonates, but thyrotoxicosis has never been described in this age, while in adults is a known entity. We h...

Background: Congenital hypothyroidism (CH) is a heterogeneous disorder. While the great majority of cases are considered sporadic, the use of next generation sequencing (NGS) may bring significant advances in elucidating the underlying molecular mechanisms.Case presentation: We selected a family with three children affected by CH with gland in situ and diagnosed at neonatal screening: the index patient, his sister and his brother. Data at diagno...

Background: Thyroid disorders (subclinical hypothyroidism and structural abnormalities) are common in Williams syndrome (WS) patients.Objective and hypotheses: Central hypothyroidism and GH deficiency (GHD) in a WS patient are discussed.Method: Case report and literature review.Results: A 5-month-old male was admitted to our hospital because of growth failure since the 3rd month, mild dysmorphisms, micropenis...

Background: Although thiamazole (MMI) is the first-line treatment for non-pregnant women with Graves’ disease, the teratogenic effects of this drug have been confirmed. Surgical anomalies known as ‘major MMI-related anomalies’ include omphalomesenteric duct remnants. This is a common difficulty when attempting to clarify whether there is any association between infrequent surgical anomalies and MMI exposure using data derived from women with Graves’ disease...

Background: Congenital hypothyroidism (CHT) may be viewed as a relatively easy condition to diagnose and treat. However, for the parents who are contacted with the neonatal screening results the news can be devastating, and the quality of information provided can be very variable.Objective and hypotheses: We aimed to explore the experience of parents at the time of diagnosis, and ascertain how we could improve this.Methods: In asso...

Background: Linear growth in patients with congenital hypothyroidism (CH) born in 1970s and 1980s is reported normal.Objective and hypotheses: To evaluate whether the earlier diagnosis and the higher L-T4 starting dose lead to an improvement in growth and pubertal outcome over the last two decades.Method: Two-hundred and fifteen patients with permanent CH born in 1980s and 1990s (age at diagnosis 25.1&#177...

Background: Antithyroid drugs (ATD) are recommended as the initial treatment in Graves disease in childhood and adolescence. Identification of predictive factors might lead to improve patient management by facilitating the identification of patients requiring long-term ATD or early alternative therapy.Objective and hypotheses: To assess the prevalence of signs and symptoms of hyperthyroidism in childhood and adolescence, to evaluate the rates of adverse ...

Background: Prior research has shown a correlation between TSH levels and BMI in euthyroid subjects. Whether this relation can be applied to hypothyroid chemically euthyroid children has yet to be determined.Objective and hypotheses: To determine if there is a correlation between TSH levels and BMI percentiles in hypothyroid children who are chemically euthyroid on levothyroxine.Method: Retrospective chart review of patients from R...

Background: The combination of various severe manifestations of hypothyroidism with pseudo muscular hypertrophy is called Kocher Debre Semelaigne syndrome (KDS). KDS is very rare in countries where newborn screening for hypothyroidism is in place. Most of the reports of KDS have come from India and developing countries with only a single report from Europe over last five decades. We present a 7-year-old boy from UK who had short stature and apparent partial lipodystrophy.<...

Background and aim: Hypothyroidism could be accountable for cardiovascular diseases; hence, necessity of novel biomarkers being capable to predict patient’s status is indispensable. The aim of this study was to appraise alteration of plasma visfatin levels (as a newly discovered proteins) and its association with lipid profiles of hypothyroid patients.Materials and methods: In this cross-sectional, descriptive, and analytical study, 30 children bein...

Background: Paediatric thyrotoxicosis is both rarer and more severe than in adulthood, rendering management difficult, and often unsatisfactory.Objective: To review outcome in a geographically defined area between 1989 and 2013; hence to develop an algorithm for improved clinical care.Method: Retrospective case note review plus questionnaire to family doctor requesting update. Graves’ disease (GD) was defined as positive TSH-R...

Background: Congenital hypothyroidism (CH) is a common condition that occurs in ~1:3000–4000 live births and is one of the most common preventable cause of mental retardation with an early diagnosis and prompt pharmacological treatment. Neonatal screening has abolished this disease but 10% of children originally diagnosed with CH will have a transient form of the disorder and this percentage is increased during the last years due to a lowering of cut-off.<p class="abs...

Background: Congenital hypothyroidism (CH) occurs in 1:3000–1:4000 newborns. The majority of newborns with CH are detected by routine screening programs and treatment is promptly initiated following confirmatory thyroid function testing. Although early imaging studies do not influence the treatment decision or management, they establish the underlying diagnosis and may distinguish between permanent and transient CH.Objective: To assess the role of e...

Background: Cannabis use has been legalised in four states in USA. However, endocrine effects of marijuana use are largely unknown. Published experiments on animals have suggested that acute cannabis exposure may lead to suppressed thyroid function, but human studies are limited. Of interest, some studies have shown that cannabis has immunomodulatory effects.Objective and hypotheses: We carried out a cross sectional analysis of data by National Health an...

Background: The thyroid disorders in children and adolescents are varied. They are dominated by frequent malignant tumour lesions and goitres represented by Graves’ disease and Hashimoto’s thyroiditis in adolescence. They are characterized by several clinical forms.Objective and hypotheses: To study the clinical and aetiological characteristics of thyroid disease in children and adolescents.Method: This is a retrospective...

Background: Overt neonatal hyperthyroidism is estimated to occur in 1–2% of offspring of pregnant women with Graves’ disease. Preterm delivery, enhancement of bone include advanced bone age, craniosynostosis, and microcephaly may be present. Ventriculomegaly and hydrocephalus may present rarely, and just three cases were reported previously. Craniosynostosis is a risk factor for delayed cerebral development, hydrocephalus, and psychomotor retardation. Craniolacunia (...

Background: A second screening for congenital hypothyroidism between the 2nd and the 4th weeks of life in preterm infants is recommended in order to avoid false negative on the first screening. The incidence of transient hypothyroidism in this population is high.Objective and hypotheses: i) Analyse the utility of the second screening in our population of preterm infants. ii) Follow-up of those preterm infants with hypothyroidism.Me...

Background: In premature neonates hypothyroidism or thyroid sick syndrome is frequently diagnosed, which is a result of the immaturity of the gland itself and the hypothalamic–pituitary–thyroid axis. The necessity of rapid adaptation to extrauterine life, generation of high thermal energy, and accelerated development of the central nervous system is the cause of the increased demand for thyroid hormone.Objective and hypotheses: The aim of our s...

Background: Intrathyroidal ectopic thymic tissue is one of the rarest congenital abnormalities. Ectopic thymus tissue can be detected in various locations from the mouth or the base of the skull to the superior mediasteneum. We report here three cases of intrathyroidal ectopic thymus tissue who presented as thyroid nodules in different ages.Cases: Case 1: a 10-year-old girl had a guatr and her thyroid function tests were normal. Thyroid US showed a hypoe...

Background: Diabetic ketoacidosis is one of the precipitating factors that can evoke a thyroid storm. Thyroid storm may cause cerebral ischemia in moyamoya disease, which coexist in the patient with Graves’ disease.Case presentation: A 16-year-old girl complaining of dizziness and palpitation visited emergency room, and was diagnosed with diabetic ketoacidosis (DKA) combined by hyperthyroidism. Thyroid storm occurred in 6 h after the start of DKA ma...

Background: Monocarboxylate transporter 8 (MCT8) is a specific transporter of triiodothyronine (T3). MCT8 gene mutations cause a rare X-linked disorder known as Allan–Herndon–Dudley syndrome, characterized by thyroid dysfunction (high T3, low T4, and normal/high TSH) and psychomotor retardation.Case report: A 4-year- and 9-month-old boy, who was already having L-T4 treatment fo...

Background: Thyroid carcinoma is the most common endocrine malignancy and most common secondary malignancy for childhood cancer survivors. Radiation exposure has been clearly linked to risk. Thyroid nodules in children have a high risk for malignancy, whether arising spontaneously or after radiation. Reported incidence of thyroid carcinoma after radiation is 20 times the population risk, partly due to improved long-term childhood cancer survival and more active surveillance. D...

Objective: There have no been studies enough about thyroid volumes of obese and adolescent children. In this study, we purposed comparing of thyroid volumes in respect of anthropometric, biochemical, metabolic parameters in following groups: Overweight, obese, morbid obese, and healthy children.Method: Two groups were compared: The first group consisted of 190 children whose BMIs are above the 85th percentile. The second group was 90 children with normal...

Background: Ttf1−/− mice had complete absence of follicular and parafollicular cells, agenesis of lung parenchyma, ventral forebrain, and pituitary. Congenital hypothyroidism (CH) patients with chromosomal deletions encompassing the TTF1 locus and point mutations in the TTF1 gene confirmed its implication in the phenotype: CH with a thyroid gland in place, associated with respiratory distress syndro...

Background: Autoimmune thyroid disease (AITD) is the most common thyroid disorder in the paediatric age range. However, the development of thyroid dysfunction in biochemically euthyroid children with positive TPOAbs and associated risk factors is unclear.Objective and hypotheses: To evaluate the evolution of children with positive TPOAbs and normal thyroid function and identify predictive factors for the development of thyroid dysfunction.<p class="a...

Background: The basic subset of T cells playing a major role in the pathogenesis of Hashimoto’s thyroiditis are CD8+T cells. The mechanism of disease initiation is dysfunction of natural Tregs leading to breakdown of the self-tolerance. The best known subset of natural Tregs are CD4+Foxp3+T, but CD8+T cells expressing CD122 were also recognized as functional Treg cells.Objective and hypotheses: The aimof the study was to evaluate the contribution of...

Background: Hoffmann syndrome is a specific and rare form of hypothyroid myopathy in adults characterized by presence of muscle stiffness, proximal weakness and pseudohypertrophy. When this occurs in a cretin child it is known as Kocher–Debré–Sémélaigne syndrome. Patients with more severe or longstanding untreated hypothyroidism are more likely to develop clinically significant muscle disease. Serum muscle enzyme levels as CK, myoglobin and lactate deh...

Background: Congenital hypothyroidism (CH) is the most frequent endocrine disease in infants with prevalence ratio in the range of 1:2000–1:4000 new-borns. The disorder can be permanent (CHP) or transient (CHT). CH can be classified into two main groups: Dysgenesis, which accounts classically for 80–85% of cases and dyshormonogenesis for remaining 15–20%. From the last decade, studies described a upward trend for CH prevalence and changes in groups’ proport...

Background: Mild TSH elevations are frequently observed in obese patients, in the absence of any detectable thyroid disease.Aims and objective: To evaluate possible causes for the raised TSH levels and to verify possible biochemical and clinical consequences of this condition.Methods: We evaluated 779 (325 males/454 females) obese children, chronological age 14.38±2.56 (range 5.25 to 18.50), height SDS 0.27±1.04 (range &#...

Background: The presence of a thyroid nodule (TN) is a rare clinical condition during childhood and adolescence. In children, classically was considered malignant and total thyroidectomy was recommended whenever a TN was detected or in the case of cold nodules. There are not long time series in children, but recent clinical guidelines recommend an initial management as in adults.Objective and hypotheses: Review TN in children in our area.<p class="ab...

Background: Trisomy 21 is a chromosomal abnormality that predisposes to autoimmune diseases. Among them the thyroid dysfunction is frequently observed.Objective and hypotheses: Study the various thyroid diseases in trisomy 21 patients and their therapeutic management.Method: This is a retrospective study of 50 cases of Down syndrome children with thyroid disease, collected over a period of 9 years (2006–2015). All children und...

Background: Mexico is globally ranked as one of the countries with the highest incidence of congenital hypothyroidism. There are few studies that have searched for germinal mutations of candidate genes, such as NKX2-1, in patients with congenital hypothyroidism.Objective and hypotheses: i) To search for NKX2-1 mutations in blood samples of patients with confirmatory diagnosis of congenital hypothyroidism (CH) due to thyroid dysgenesis (...

Background: Thyrotoxic crisis is a rare, emergent complication of paediatric hyperthyroidism. A rare neurological manifestation of thyrotoxicosis is thyroid myopathy.Objective and hypotheses: We report the case of a female teenager who presented to the Emergency Department with thyrotoxic crisis and lower extremity weakness. Our objective is to discuss the course of thyrotoxic crisis and review potential rare neurological manifestations of thyrotoxicosis...

Background: Graves’ disease (GD) is the most common cause of hyperthyroidism in fertile woman and can cause fetal and neonatal hyper or hypothyroidism. It is associated with transplacental transfer of maternal thyrotropin receptor antibodies (TRAb).Objective and hypotheses: The main objective of this study was to characterize the neonates born to women with GD followed in a pediatric endocrinology reference unit.Method: A retr...

Background: Diffuse or multifocal infantile hepatic hemangiomas cause consumptive hypothyroidism due to overexpression of type 3 deiodinase in the endothelium of vascular tumor. Because type 3 deiodinase converts of T4 to reverse T3 and of T3 toT2, a use of levothyroxine alone may not maintain normal levels both fT3 and fT4. T3 therapy in this order has scarcely been reported. We here present a Japane...

Background: Most experts agree that subclinical hypothyroidism (SH) represents early, mild thyroid failure, however there are controversies about the evolution of SH over time.Objective and hypotheses: The aim of the study was to analyse the dynamics of thyroid dysfunction in children initially referred as patients with SH.Method: During the period January 2010 – January 2015, 258 unselected consecutive SH patients (140 girls)...

Background: Neonatal thyroid screening is considered one of the best cost-effective tool to prevent mental retardation in population. Different strategies are suggested for thyroid hormone estimation in the sample obtained at birth using cord blood or later in neonatal period. In King Abdulaziz Medical City, cord TSH is the screening tool to detect congenital hypothyroidism cases with a cut off value of 30 MIU/l considered positive result. In 2011, newborn screening programme ...

Background: Neonatal hyperthyrotropinaemia (HT) is defined by elevated TSH and normal fT4. HT is an increasingly common diagnosis and may be transient or permanent. There is a often a diagnostic dilemma whether to treat to prevent subclincal hypothyroidism or to wait thereby avoiding the risks of iatrogenic hyperthyroidism.Objective and hypotheses: To examine a large population of infants referred to a tertiary centre over one year and determi...

Background: Congenital primary hypothyreoidism occurs in about 1 of 3 600 life births and is usually detected with newborn screening. Early levothyroxine treatment is the prerequisite for normal psychomotor development of affected children. However, patients suffering from congenital central hypothyroidism are missed by the screening procedure, which may lead to delayed diagnosis and therapy. In very rare cases central hypothyroidism is caused by isolated TSH deficiency due to...

Case presentation: A 23 months-old girl visited the hospital because of fever and left neck mass. She was diagnosed as acute suppurative thyroiditis with piriform sinus fistula. Thyroid sonography showed perithyroidal abscess formation and thyroid scan showed decreased uptake of Tc-99 m pertechnate of both thyroid glands. Magnetic resonance imaging of neck suggested infected 3rd and 4th branchial cyst. And there was tiny fistula between thyroid and piriform sinus on barium eso...

Background: Thyroid dysfunction is well-established feature in children with Down syndrome (DS). There are several reasons for both clinical (CH) or subclinical (SH) hypothyroidism in these children- thyroid dysgenesis and dyshormonogenesis early in life, thyroid insensitivity to TSH; or autoimmune disease during school age.Objective and hypotheses: Evaluation of thyroid function in children with DS.Method: Thyroid function from 80...

Background: Most individuals with neonatal hypothyroidism present clinically asymptomatic or with few symptoms. Early treatment with oral levothyroxine prevents complications related to this disorder. We report a case of a male infant with Short Bowel syndrome (SBS) and congenital hypothyroidism (CH) treated with rectal levothyroxine.Case and presentations: A male patient with previous gastroschisis underwent multiple surgical approaches for small bowel ...

Background: Simple goitre (SG) and autoimmune thyroid disease (AITD) are the two most common causes of goiter in children.Objective and hypotheses: The prevalence of thyroid dysfunction, AITD, and SG at the time of goiter diagnosis was investigated. The natural course of SG was studied and factors related to the development of AITD and/or thyroid dysfunction were analysed.Method: A retrospective review of 1,225 patients (1071 femal...

Background: Hyperthyroidism is considered to be rare in children; its clinical profile is different and the most cause is Grave’s disease (GD).Objective and hypotheses: To evaluate clinical features and evolution of childhood hyperthyroidism.Method: Longitudinal retrospective study of children diagnosed with hyperthyroidism in an endocrinology unit in a children hospital in Tunisia.Results: Seven cases o...

Background: Massive pericardial effusion is uncommon complication of acquired hypothyroidism in children, and prompt drainage should be performed for impending tamponade. Thyroxine supplementation improves all clinical signs except profound growth failure, resulting poor catch-up growth.Case presentation: 9 years 11month old girl was brought to emergency room with sudden worsening dyspnea for 1 day. Previously healthy girl showed weight increase of 10 kg...

Objective: To determine the prevalences of goitre and thyroid nodule, and to analyse the associations among age, gender, anthropometrics and thyroid volume in school children.Materials and method: Schools governed by Ministry of Education in Van province were included into the study. Sonographic evaluations of thyroid glands were performed in children aged 6–17 years, and weight, height, waist circumference, hip circumference, and skinfold thickness...

Background: In adults, autonomously functioning thyroid nodule (AFTN) rarely require cytologic evaluation and hyperthyroidism is often treated with radiojod (131J). In children and adolescents with AFTNs thyroid carcinoma was identified in about 10%.Results: An 17-year-old adolescent presented with symptoms of hyperthyroidsm. She suffered from agitation and headache. Thyroid function tests revaled a suppressed TSH (0.10 mIU/ml (reference range 0.51–...

Background: The hypothyroidism is defined by an elevated TSH with normal fT4 and the absence of symptoms of hormonal deficiency. In children and adolescents, it is mainly due to chronic thyroiditis or radiotherapy for cervical cancer.Objective and hypotheses: Assess clinical, etiological and evolutionary characteristics of subclinical hypothyroidism in children and adolescents.Method: This is a retrospective and prospect...

Objective: Subclinical hypothyroidism (SH) prevalence in the paediatric population is reported between 1.7 and 9.5%. Results of the adult studies on SH showed that long term SH had negative effects on atherosclerosis, dyslipidaemia, insulin resistance and cognitive functions. The decision about treatment of SH in paediatric patients is still a matter of debate. None of the consensus statements published about the management of SH addressed the issue of SH in the paediatric pop...

Background: Graves’ disease is a rare autoimmune thyroid disease that characterized by hyperthyroidism, diffuse goitre and ophthalmopathy. It generally involved both lobes of the thyroid, unilateral involvement was rare.Case report: A 18 year old girl presented with weakness, alopecia, menstruel irregularity. In physical examination moist skin, increased pulse rate (116/min) and enlargement of the right lobe of the thyroid was determined. Her blood ...

Introduction: Developing an acute onset thyroid nodule is rare in children and usually associates with infectious or neoplastic disease; when linked to hyperthyroidism, the most likely diagnosis is toxic adenoma.Clinical description: 9-year-old boy with no relevant medical history was seen at the emergency department for acute cervical pain and tumor involving the left thyroid lobe with no inflammatory signs or history of trauma. Physical examination rev...

Background: Hyalinizing trabecular tumour is a rare, begin thyroid neoplasm, which shares some histologic features with thyroid papillary carcinoma or medullary carcinoma. Sometimes it is misdiagnosed as papillary carcinoma on fine-needle aspiration cytology (FNAC). The aetiology of hyalinizing trabecular tumour is unknown. The tumour may arise in a background of chronic lymphocytic thyroiditis, multinodular goitre, or after radiation exposure. Hyalinizing trabecular adenoma (...

Objectives: Hypercalcaemia, hypothyroidism, and early puberty are the most common endocrine disorders defined in Williams-Beuren syndrome (WBS). Here, endocrine evaluation and long-term follow-up of seven patients with WBS are given.Methods: Data were obtained from patient’s medical records. WBS was diagnosed by demonstration of the deletion on chromosome 7 by using FISH method (7q11.23). OGTT were performed in four patients. Thyroid ultrasonography...

Background: Of the several genetic defects responsible for thyroid dyshormonogenesis, mutations in TPO gene are the most prevalent causes of inherited defects in CH. Prevalent mutations are in exons 8–11 (catalytic site).Case presentation: Girl, born at term (s.c) picked up by TSH screening and start of LT4 treatment at d14 with 14 μg/kg per day (table 1), clinical signs: no goiter, hypotonia, dry skin, posterior fontanel >5 mm, ...

Background: Antithyroid drugs such as carbimazole form the mainstay of medical management of hyperthyroidism in children. Parents are always warned about agranulocytosis, which is a rare side effect of these drugs. Development of arthralgia after starting antithyroid medication can be a disabling side effect and needs to be distinguished from the more serious antineutrophil cytoplasmic antibody (ANCA) positive vasculitis.Objective and hypotheses: Here we...

Background and aims: To explore the functional autonomy in adolescents with nodular goitre.Materials and methods: We have examined 66 patients with nodular goiter from iodine deficient region. There were 48 girls (mean age 14.91±1.78 years) and 18 boys (mean age 14.46±2.75 years) among them. Uninodular goitre was diagnosed in 43 patients, 23 patients had multinodular goitre. The survey included thyroid scintigraphy 99mTc and assessment of the f...

Background: Radioactive iodine (RAI) therapy has become the preferred treatment for Graves’ disease in children. Its use has found favour due to the risk of adverse effects in medical management and the invasiveness of thyroidectomy. Side effects of RAI in adults are well-documented and include dry mouth, sore throat, and neck pain. With its relatively recent application to paediatric patients, there is not a complete understanding of adverse effects in the paediatric pop...

Background: Graves’ disease (GD) is most prevalent autoimmune disorder in adult. The annual incidence in adult woman is approximately 0.5 in 1 000, and in adult men is one tenth as common as in women. GD is rare in children, with an annual incidence of 0.8 in 100 000, and with six times more common in girls, thus, GD in boys is very rare. An annual incidence of GD under 10 year-old is extremely rare. Spontaneous transient thyrotoxicosis with pregnancy is sometimes happene...

Background: Obesity in adults is closely associated with an increased prevalence of thyroid gland (TG) pathology, but thyropathy formation issues among children are not sufficiently studied.Objective and hypotheses: To determine the prevalence and structure of TG pathology in children with obesity by gender and degree of puberty.Method: In 121 patients 6–16 years old with obesity a thyropathy detection was conducted (diffuse n...

Background: Euthyroid sick syndrome (ESS), also known as non-thyroidal illness or low T3 syndrome, is defined as low T3, low/normal T4 and inability of rise in TSH due to extrathyroidal diseases. Any condition resulting stress such as infectious diseases, sepsis, metabolic disorders and severe malnutrition can associate to ESS. Patients presented with type 1 diabetes mellitus (T1DM) are usually being screened for other autoimmune diseases inclu...

Background: Although thyroid nodules are rare in children compared to adults, the risk of malignacy is higher. Thyroid fine-needle aspiration (FNA) is a reliable diagnostic method used in the prediction of malignancy in the evaluation of thyroid nodules together with clinical and ultrasonographic findings.Objective and hypotheses: To compare clinical, ultrasonographic, cytological and histopathological findings in patients who underwent FNA.<p class=...

Background: Graves disease is the most common cause of hyperthyroidism in children. The frequency of the disease increases with age, peaking during adolescence.Thyroid storm is a rare but critical, ilness that can lead to multiorgan failure and carries a high death rate. Antithyroid drugs are usually recommended as the initial treatment and are generally well tolerated. Although current treatment options include radioactive iodine, but long term complications of thyroid irradi...

Background: Hypothyroidism is a common problem during childhood generally due to autoimmune thyroid disease. It can also occur in case of severe loss of serum proteins, as well as in the case presented. The most accepted practice in the treatment of hypothyroidism consists in the oral administration of LT4. Many conditions may affect the absorption of LT4.Case presentation: We report an original case of LT4 malabsorption ...