A 2 day-old male infant was referred to the Department of Paediatrics for a large goiter. The boy was born as the third child of healthy unrelated parents at 40 weeks of gestation with birth weight 4,950 g and length 55 cm. Antiseptics containing iodine were not used in the mother, nor in the infant. Physical examination revealed myxedema of the face, protruding tongue, dry skin, hoarse cry, large goiter and hypotonia. An ultrasound examination revealed enlarged thyroid gland. Thyroid function tests at 2 days of age were as follows: total triidothyronine (T3) 3.0 nmol/1 (normal range: 1.04-2.5), total thyroxine (T4) 23.2 nmol/1 (normal: 65-160), free thyroxine (fT4) 2.6 pmol/1 (normal range: 10-25), thyroid-stimulating hormone (TSH) 165.1 mIU/1 (normal range: 0.15-3.2), and thyroglobulin 2,093 ng/ml. He was immediately started on 50 g/day of L-thyroxine. Roentgenography of the knee demonstrated dysgenesis of the distal femoral epiphysis, while the proximal tibial epiphysis were not visualized. Molecular genetic analysis of the TPO gene was done. In the examined regions of the TPO gene, all 17 exons except exon 14, no mutations were detected. His mother's serum T4 and TSH levels were normal, and thyroglobulin and thyroperoxidase antibody tests were negative. There was no family history of thyroid diseases. No maternal use of medication was reported. Weaning off the L-thyroxine was started on the 23 day of life due to elevated T4 level. At the age of 4 months he was completely weaned off L-thyroxine and has not required any since. The patient is now 3.8 years old, thyroid enlargement is still present, and physical and neurological development are normal. Iodine overload, iodine deficiency, and matemal thyroid antibodies are common causes of transient congenital hypothyroidism. The etiology of transient hypothyroidism in this newborn is unknown. More research is required in order to evaluate the frequency, causes and optimal therapy of transient neonatal hypothyroidism.

Introduction – An enlarged lymph node is the most common neck mass in children. The usual causes of enlargement are infections such as bacterial and viral adenitis, pharyngitis, an infectious diseases and Hodgkin disease. However, sometimes enlarged lymph nodes can be found in thyroid carcinoma as the first manifestation of the disease.  Case report – Here we report on 11- year old girl with painful cervical lymphadenopathy. An ultrasound and cytological examination followed by fine-needle aspiration cytology from the thyroid gland revealed a papillary carcinoma. A total thyroidectomy with lymph nodes dissection was performed. The postoperative diagnosis confirmed thyroid carcinoma metastaticum in the lymph nodes. With a view to implementing the further diagnostic and therapeutic protocol a whole body scintigraphy was performed and it revealed a radioiodine collection in the area of the remaining thyroid tissue. As a result radioiodine therapy i.e. 100 mCi (370 MBq) was administered. Substitution therapy was administered. A year later the whole body scan showed a focus of increased uptake in the neck indicating that there was a need to repeat radioiodine therapy. This time a dose of 100 mCi was administered (total dose of radioiodine ablation amounts to 200 mCi). Since the surgery was performed five years ago there have not been any signs of local recurrence or metastasis.  Conclusion – Enlarged lymph nodes are a serious clinical problem. Therefore, lymphadenopathy regardless of its occurrence demands detailed clinical testing. Priority should be given in this pathology diagnostics to ultrasound examination in combination with fine-needle aspiration cytology, which can reveal the cause of the disease in good time and reliably.

AIM The aim of the study is to estimate how far physical education teachers from elementary school understand diabetes and are trained in its management and in the treatment of diabetes emergencies according to their understanding. METHODS In the study a descriptive research method has been used and a closed type survey for data gathering has been employed. The study included 83 physical education teachers from 83 primary schools. They have been divided into 2 groups: the first consisting of 28 physical education teachers whose schools are attended by at least one child with diabetes type 1, the second consisting of 55 physical education teachers whose schools do not have children with diabetes type 1. RESULTS In answer to the question about whether the physical education teachers are able to recognize the symptoms of hypoglycemia a larger number of school staff in the first group answered ''yes'' compared to the second group, while interest in education in comparison to lack of interest was significantly present in both groups. As for the question: ''Is glucose or meal allowed in the classroom?'', in the first group there were more positive answers, while in the second group there was no difference in terms of positive and negative answers. As for the question ''Is blood glucose testing allowed in the classroom?'' there was a difference between the groups: the first group's answers were significantly positive while the second group's negative. CONCLUSIONS The results of our survey show that children with diabetes do not have appropriate diabetes care in school and that school staff want to solve this problem.

OBJECTIVE Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism (CH). Thyroid peroxidase gene (TPO) mutations are one of the most common causes of thyroid dyshormonogenesis. The aim of this study was to identify TPO gene defects in a cohort of patients with thyroid dyshormonogenesis from Slovenia, Bosnia, and Slovakia. DESIGN AND METHODS Forty-three patients with permanent CH and orthoptic thyroid glands from 39 unrelated families participated in the study. Mutational analysis of the TPO gene and part of its promoter consisted of single-stranded conformation polymorphism analysis, sequencing, and restriction fragment length polymorphism (RFLP) analysis. RESULTS TPO gene mutations were identified in 46% of participants. Seven different mutations were identified, four mutations of these being novel, namely 613C > T (R175X), 1519_1539del (A477_N483del), 2089G > A (G667S), and 2669G > A (G860R). Only a single allele mutation was identified in 65% of the TPO mutation carriers. CONCLUSIONS The results showed a higher prevalence of TPO gene mutations in thyroid dyshormonogenesis when compared with published studies. The high percentage of single allele mutations implied possible intronic or regulatory TPO gene mutations or monoallelic expression.

The aim was to describe the clinical and laboratory characteristics of diabetes mellitus type 1 at its onset. The hospital records at Tuzla pediatric hospital were analysed of 109 children aged 0-14 who presented with diabetes between 1990 and 2005. The data base was divided into three age groups: 0-4.9, 5-9.9 and 10-14 years - referred to hereafter as the younger, middle and older age groups. We found the duration of symptoms prior to diagnosis to be significantly shortest in the younger age group. Polyuria, polydipsia and weight loss were the main presenting symptoms in all age groups. The median blood glucose value was 26.0 mmol/L and the pH value was 7.30. The incidence of diabetic ketoacidosis of 48.0% and the median HbA 1c value of 10.7% at diagnosis indicate that disease was not recognised long before diagnosis. Since our desire is to avoid the development of ketoacidosis, it is necessary to educate people who are in permanent contact with children about the symptoms of diabetes type 1. This could to a certain degree prevent the presentation of the life-threatening condition of diabetic ketoacidosis, if the occurrence of diabetes cannot be prevented.

Type 1 diabetes mellitus (DM1) is diagnosed in children worldwide in between 15% and 67% of cases at the stage of diabetic ketoacidosis (DKA). This complication of new onset DM1 is characterized by hyperglycemia (blood glucose >11 mmol/1), acidosis (venous pH <7.30 and/or bicarbonate <15 mmol/1) and glycosuria, ketonuria and ketonemia. In Bosnia and Herzegovina, data on DKA at DM1 onset are not yet available. The aims of the present study were to describe the frequency and patterns of the clinical and laboratory characteristics of DKA at onset of DM1 in children who were hospitalized at the Department of Pediatrics in Tuzla, Bosnia and Herzegovina, during the past 16 years.

The aim of the study was to determine the epidemiology of type 1 diabetes mellitus in the 0 to 14 years age group on the territory of the Tuzla Canton. Primary case identification was based on the data from the local register of Type 1 diabetes, which is held at Department of pediatrics, University Clinical Center in Tuzla. Secondary independent sources were data from 13 public health centers in the Tuzla Canton. The ascertainment was based on the capture-recapture method and was estimated to be 100%. Medical records of the children with diabetes were retrospectively reviewed. In the Tuzla Canton the prevalence of the disease on December 31st of 2005 was 0.56 per 1000. The prevalence was the highest in AŒeliA‡ (1.43) and Tuzla (1.01), and the lowest (0.13) in Srebrenik. A prevalence higher than average (0.56) was found in AŒeliA‡ (1.43), Tuzla (1.01), Kalesija (0.84) and Lukavac (0.66). The highest number of patients was diagnosed in January, March, October and December and the lowest in May and June. According to age the highest incidence was found at ages 10 and 12. The mean yearly incidence in the period 2001 – 2005 was 10.5 per 100 000. In conclusion, the results of our research provide means for adequate consideration of epidemiological indicators of type 1 diabetes in children in the Tuzla Canton, which may be useful for planning preventive, organizational, and therapeutic programs in pediatric health care in the Tuzla Canton.

PURPOSE The aim of the study was to estimate, according to parents and their children with diabetes, how far school personnel have an understanding of diabetes and is trained to provide appropriate treatment of diabetes emergencies. WORK METHOD The study included 37 children and adolescents with diabetes type 1 (17 girls and 20 boys) from 31 schools in the Canton of Tuzla, aged 7-18 years. A descriptive research method was used in the study and for data gathering a closed type survey was used. RESULTS Only 13 or 35.3 % of the 37 surveyed parents were satisfied with the care of their child with diabetes at school, while 24 or 64.7 % parents expressed dissatisfaction with it. According to the parents' statements, class teachers are 100 % informed about the existence of students with diabetes type 1 at their schools, while PE teachers (97.9 %) and the headmasters of the schools (81.1 %) are less well-informed. Regarding the question about whether the school personnel is trained for diabetes-related tasks, the parents answered YES in 25.7 % cases; 54.3 % of them answered NO, and 20 % of them answered DON'T KNOW. However, only 35.2 % of parents found that some of the employees at the school are trained to recognize the symptoms of hypoglycemia while the number of positive answers concerning treatment of hypoglycemia (18.9 %) or glucagon administration (13.5 %) was much lower. The answer to the question: "Is blood glucose testing allowed in the classroom?" in 91.5 % cases was YES, 5.7 % NO and in 2.8 % of cases was DON'T KNOW. CONCLUSION The results of our survey show that children with diabetes do not have appropriate diabetes care in school.

Primary congenital hypothyroidism is a common preventable cause of mental retardation. Neonatal thyroid screening is highly successful in early diagnosis and the improvement of developmental prognosis in the hypothyroid neonate. However, rarely cases could be missed, so doctors must be aware of the earl symptoms and signs of hypothyroidism. Therefore, the purpose of this study was to emphasize the presenting clinical features of primary congenital hypothyroidism at the age of diagnosis. The study population included 17 children with primary congenital hypothyroidism who attended the Department of Pediatrics, University Clinical Center Tuzla between 1986 and 1999. The diagnosis of all patients was confirmed by serum thyroid function tests (T4 and TSH). Of the 17 patients 10 (58.8%) were diagnosed in the first three months of life and 3 of them (17.6%) between fourth and sixth month of life. Four children (23.5%) were diagnosed after the age of six months. In the first three months of life hypothermia, constipation, jaundice, poor feeding, hoarse cry, macroglossia and hypoactivity were the moste common symptoms. Among the 17 patients with primary congenital hypothyroidism 5 of them (29.4 %) were diagnosed to have disgenetic thyroid tissue and 12 (70.6%) as having dyshormonogenesis. TSH and T4 levels were higher in patients in whom thyroid tissue was dysgenetic as comapared with those with dyshormonogenesis but the difference was not statistically significant (p > 0.05). Now it is expected that neonatal screening program in Bosnia and Herzegovina Federation will contribute to the detection of primary congenital hypothyroidism in early days of life. However, until an effective screening test is not yet routine in whole country, paediatricians should consider the diagnosis of hypothyroidism whenever it is clinically suggested.

This is a review article on congenital primary hypothyroidism. In addition to the defi nition of the disease and its transient and permanent forms, the signifi cance of neonatal screening is underlined. The procedure for the analysis of the test results, for establishing the defi nitive diagnosis and its etiology are delineated. The importance of starting early treatment is emphasized.

This paper is giving detailed instructions for the correct technique of filter-paper blood spot sampling in the course of newborn screening programme for metabolic diseases. The importance of education of future parents is emphasized, and the best time, place and procedures for blood sampling are given. In addition, the necessity for providing correct data on the fi lter paper cards and their immediate transfer to the screening laboratory at the Department of Pediatrics, University Hospital Tuzla are underlined.

The history, the present and the future of the Laboratory for the detection of congenital metabolic diseases at the Department of Pediatrics, University Hospital Tuzla are reviewed. The importance of implementation of neonatal screening of primary congenital hypothyroidism and fenilketonuria, cooperation with similar laboratories in the world and starting within a short time a screening programme for congenital adrenal hyperplasia is emphasized. In addition, a brief account of the running research programmes and of the published papers is given.

Thyroid size was estimated by ultrasound and physical examination in 480 schoolchildren (238 boys and 242 girls), 7-14 years old, living in Tuzla Canton. By physical examination goiter was found in 13.5% (n=65) of subjects. When compared with the upper limits of the reference thyroid volumes reported by WHO and ICCIDD, goiter by ultrasonography was found in 12.9% (n=62) of all subjects. All goitrous children had a diffuse goiter. The differences in mean thyroid volumes between groups with and without goiter detected by physical examination were significant in all age groups (p<0.05). The results of ultrasound examinations correlate well with palpatory findings and show higher values for the thyroid volume in children with goiter. It generally confirms the values of the findings by palpation, even in areas with mild iodine deficiency.