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Introduction. Seizures associated with mild acute gastroenteritis are very common in early childhood. The aim of this study is to provide basic information about seizures associated with acute gastroenteritis in order to distinguish these two entities and contribute to proper diagnosis and treatment. Material and Methods. Data were collected retrospectively from the medical records of consecutive children admitted to the Pediatric Clinic due to seizures associated with mild acute gastroenteritis in the period from October 2021 to April 2022. Patients were divided into two groups: febrile and afebrile. We compared the demographic and clinical characteristics of these two groups, as well as the microbiological, neurophysiological and neuroradiological characteristics. Results. Of the children with acute gastroenteritis and seizures, 11 were afebrile and 20 were febrile, with male predominance. The most frequently identified enteropathogen was rotavirus. Most patients presented with generalized seizures. The comparison of febrile and afebrile patients showed that cluster seizures were more common in the afebrile group (p < 0.05). Seven patients had a seizure that lasted longer than 5 minutes and all of them were from the febrile group (p < 0.01). All patients presented with normal neuroimaging findings. Conclusion. In clinical settings, making a distinction between febrile and afebrile gastroenteritis-related seizures as separate entities can be very difficult. It is still unclear what effect fever has on the onset of gastroenteritis- associated seizures, and whether febrile and afebrile seizures have a distinctly different pathophysiological mechanism, which is why further research is needed.

Introduction. Minipuberty occurs during the first months of life after the activation of the hypothalamic-pituitary-gonadal axis which causes an increase in gonadotropic and sex hormones. Usually, it does not induce clinically evident physical changes. Studies have shown that minipuberty in extremely premature infants is more pronounced and lasts longer, leading to higher levels of sex hormones induce climically evident in physical changes. Case Report. We present two extremely premature female infants, born at 25 weeks of gestation, with clinically evident physical changes during minipuberty. The first infant presented with vaginal bleeding at the age of 4 months, corrected age of 2 weeks. The vaginal bleeding lasted for two days and stopped spontaneously. The infant also had small glandular breast buds of 1 cm bilaterally, swelling in the pubic region, swollen vulva and clitoris. The second infant presented with swelling in the genital region, suprapubic area and the anterior part of thighs, at the age of 4 months, corrected age of 2 weeks. Both infants had ovarian cysts. In both cases, laboratory tests were consistent with minipuberty. The described changes disappeared gradually and spontaneously. Conclusion. In order to avoid unnecessary testing, clinicians should be aware of possible physical changes during minipuberty in extremely premature infants. Clinical monitoring of these infants is recommended until regression of newly developed physical characteristics.

Introduction. Kallmann syndrome is a genetic disorder marked by hypogonadotropic hypogonadism and anosmia. Patients with Kallmann syndrome have low circulating testosterone levels and low gonadotropin levels, whereas other pituitary hormones are normal. The treatment is based on sex steroid replacement with the aim to restore normal pubertal development and includes attempts to restore fertility by using gonadotropin-releasing hormones. Ultrasound examination of the testicles is a very useful complement to determine and monitor the precise testicular volume, which is an important prognostic factor for future fertility. Case Report. At the age of 18, the patient was suspected of having Kallmann syndrome and was referred to an endocrinologist. After three months of testosterone therapy, the patient was sent for an ultrasound of the testicles. The right testicle measured 16 x 6 mm, the left testicle 10 x 5 mm, both with a discrete marginal circular dichroism signal. One year after the first testicular ultrasound, the patient came for a checkup. The right testicle measured 14 x 5 mm, the left testicle 11 x 5 mm, stationary structure. Conclusion. The diagnosis of Kallmann syndrome is often delayed, because hypogonadotropic hypogonadism is usually not apparent until puberty, and individuals with anosmia are often unaware of this sensory deficit. In this case, late recognition of the syndrome, as well as late initiation of therapy, did not give satisfactory results.

Background/Aim. To date, there has been no population-based neonatal anthropometric chart published in Serbia. Charts based on infants born in a single hospital (hospital-based) in the 1 990s are still widely used in our country, as well as the Alexander chart. The aim of this study was to construct population-based centile, gender-specific charts for birth weight and length for singleton infants born in Southeast Serbia from 24 t o 42 weeks of gestation and to compare them with other previously published charts. Methods. Data on 39,842 singleton live infants, delivered from 2006 to 2015 in three maternity wards in Southeast Serbia (Nis, Prokuplje, and Aleksinac), were analyzed. Results. The inclusion criteria met 37,169 newborns. Preterm births were relatively uncommon (5.25%). Estimated centile charts for male and female birth weights and lengths were constructed showing the 3rd, 10th, 25th, 50th, 75th, 90th, and 97th centiles. Conclusion. Our birth weight percentiles provide a population norm for singleton infants adjusted for gender, born in Southeast Serbia. These references are both of epidemiological and clinical use. There is a need for large-scale research that will include a larger number of pre-term newborns which were represented in limited numbers in our study. There is also a need for setting up the gold standard method for the precise determination of the gestational age, i.e. the use of the early fetal ultrasound.

Introduction. Primary hyperparathyroidism is rare pathology in children (2?5:100,000). In more than 85% of patients, a single adenoma is present, and its extirpation is usually the only treatment a patient requires. In approximately 15?80% of cases, ectopic mediastinal parathyroid tissue can be found inside the thymus. Case outline. Our patient was a 13-year-old boy, who presented with multiple bone fractures in the previous period of time, and fatigue. Parathyroid hormone levels preoperatively were extremely high (1320 pg/ml ? more than 19 times higher than normal). Serum calcium was also elevated (total 3.55 mmol/l; ionized 1.41 mmol/l). He was examined and diagnosed as primary hyperparathyroidism by a pediatric endocrinologist. Imaging procedures for the preoperative localization of parathyroid adenomas were done (99mTc sestamibi scintigraphy and magnetic resonance imaging suggested ectopic mediastinal parathyroid adenoma). The patient underwent video-assisted thoracoscopic surgery procedure. After exploration of the mediastinum and chest, no ectopic parathyroid tissue was found, so total thoracoscopic thymectomy was performed. Final pathological section confirmed parathyroid adenoma inside the thymus. Conclusion. We believe that if no parathyroid tissue is found during surgical exploration of mediastinum, in a child with preoperatively detected parathyroid adenoma in anterior mediastinum, recommendation is to think about possible intrathymic localization and consider removing the thymus. Greater sample size is necessary for higher reliability of this statement.

We aimed to collect data on all paediatric patients who were diagnosed with type 1 diabetes mellitus (T1DM) between the years 2000 and 2019 in Serbia and estimate for the first time its prevalence. Also, the trends of diabetes ketoacidosis (DKA) occurrence at the time of diagnosis are monitored. We collected and retrospectively analysed the data of patients

Introduction. Langerhans Cell Histiocytosis (LCH) is a rare chronic granulomatous, usually multisystem disease of elusive etiology, with peak incidence in early childhood and slow progressing course. Isolated brain histiocytosis is a very rare condition and neurological finding does not correlate with the extent of space-occupying anatomical lesions and degenerative changes. Case report. A girl, age 2.5 years was presented with diabetes insipidus and nearly fatal full spectrum isolated brain histiocytosis. Brain magnetic resonance imaging (MRI) showed multiple nodules with perifocal edema, the most prominent in the projection of the hypothalamus/pituitary and the stalk and in the region of the pineal gland. Identical nodules were present in both caudate nucleus and putamen, left insular subcortex, both temporal lobes, tegmental area of the midbrain, central part of pons and medulla, both cerebellar hemispheres and leptomeningeal membranes. The pattern resembled snow balls and flakes. Biopsy showed positivity for vimentin, S-100, CD- 68 and CD1a markers. Treatment protocol LCH-III was not successful and a salvage treatment was refused by parents. She appeared again at the age of 7 with growth deceleration and fully developed precocious puberty. The control MRI of the brain revealed similar nodules in certain regression. Due to central precocious puberty, treatment with luteinizing hormone? releasing hormone (LH-RH) analogue was introduced. School performance was mediocre with cocktail-party effect behavior and slower speech. Conclusion. Brain histiocytosis is potentially fatal disease with chronic, variable, slowly progressive course and unpredictable responses to treatment protocols

Introduction. Sheehan syndrome (ShS) is (pan)hypopituitarism because of postpartum pituitary infarction due to massive obstetrical hemorrhage. Enlargement of the pituitary gland, smaller sellar region, disseminated intravascular coagulation (DIC) or autoimmunity are predisposing factors. The absence of lactation after labor and inability to resume the menstrual cycle later are presenting symptoms. Some of patients with Sheehan's syndrome have a sudden onset of severe hypopituitarism immediately after labor, most often in the form of severe hyponatremia. Central adrenal insufficiency is the most usual cause of hyponatremia, although in some cases the syndrome of inappropriate antidiuretic hormone secretion has been also described. Case outline. The female patient, 39-year-old, was admitted to the Intensive Care Unit due to severe hyponatremia with neurological symptoms (Na 103 mmol/L, Cl 72 mmol/L, K 3.7 mmol/L), and absence of lactation. Previously, on the sixth postpartum day, she was admitted to the Obstetrics and Gynecology Clinic due to severe headache, nausea, vomiting, and blurred vision. The symptoms persist from the labor, which was complicated with severe hemorrhage (1000 ml) due to obstetric complications. Treatment began with the 3% hypertonic saline solution with restriction of fluid intake. In regard to panhypopituitarism, replacement therapy with hydrocortisone and levothyroxine was initiated. Diabetes insipidus was excluded. Growth hormone replacement therapy and combination of progesterone and progestogens was started during follow-up. Conclusion. Early diagnosis of Sheehan's syndrome is essential. Pituitary insufficiency in these patients has a great diversity in presentation, that can sometimes result in coma and death.

Background Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) or autoimmune polyglandular syndrome Type 1 is a rare autosomal recessive syndrome. The disorder is caused by mutations in the AIRE (AutoImmune Regulator) gene. According to the classic criteria, clinical diagnosis requires the presence of at least two of three main components: chronic mucocutaneous candidiasis, hypoparathyroidism and primary adrenal insufficiency. Furthermore, patients are often affected by other endocrine or non-endocrine associated autoimmune conditions. The enrichment of the non-classical triad seems to occur differently in different cohorts. Screenings of the population revealed that homozygous AIRE mutations c.769C > T, c.415C > T and c.254A > G have a founder effect in Finnish, Sardinian and Iranian Jew populations respectively. Case presentation We report here the clinical and genetic characteristics of two new Serbian APECED siblings, one male and one female, actual age of 27 and 24 respectively, born from non-consanguineous parents. Addison’s disease was diagnosed in the male at the age of 3.5 and hypoparathyroidism at the age of 4. The female developed hypoparathyroidism at 4 years of age. She presented diffuse alopecia, madarosis, onychomycosis, teeth enamel dysplasia. She further developed Addison’s disease at the age of 11 and Hashimoto’s thyroiditis at the age of 13.5. She had menarche at the age of 14 but developed autoimmune oophoritis and premature ovarian failure at the age of 16. A treatment with hydrocortisone, fludrocortisone and alfacalcidiol was established for both siblings; L-T4 (levo-thyroxine) for thyroid dysfunction and levonorgestrel and etinilestradiol for POF were also administered to the female. Genetic screening revealed a homozygous c.769C > T (R257X (p.Arg257X)) AIRE mutation. We additionally reviewed the literature on 11 previously published Serbian patients and evaluated the frequency of their main diseases in comparison to Finnish, Sardinian, Turkish, Indian and North/South American cohorts. Conclusion A founder effect was discovered for the R257X genotype detected in the DNA of 10 homozygous and 2 heterozygous patients. Of note, all Serbian APECED patients were affected by adrenal insufficiency and 10 out of 13 patients presented CMC.

Objective − The aim of the research was to establish the incidence of increased fasting glucose concentration and insulin resistance/increased insulin levels within the scope of metabolic syndrome (MS) in overweight and obese children and adolescents. Materials and methods − Two sets of criteria for diagnosing MS were applied to the whole sample (n=206): the criteria for adults, specifically adapted for children, and the criteria of the International Diabetes Federation for children and adolescents. Fasting plasma glucose (FPG) and insulinaemia were analysed in the first and second hour of the oral glucose tolerance test (OGTT) and homeostatic model assessment of insulin resistance (HOMA IR). Results − Increased FPG was registered in just 8.8% of the adolescents with MS, while in 90% of cases, insulin resistance/increased insulin levels. FPG did not differ significantly in adolescents with the MS diagnosed using both definitions, while the insulinaemia values in the first and second hour of the OGTT and HOMA IR were significantly higher in the patient with the MS diagnosed using both definitions (P

Neonatal diabetes mellitus is a rare monogenic disease with incidence of 1/90,000 new-borns. A case of two months aged male infant with life threatening diabetic ketoacidosis is presented with novel ABCC8 gene mutation (p.F577L), successful transition from insulin to sulfonylurea and follow-up of three years.

Data regarding incidence of type 1 diabetes (T1DM), as well as data on frequency and severity of diabetic ketoacidosis (DKA) at the time of T1DM diagnosis is of paramount importance for national and regional healthcare planning. The aim of present multicenter study was to provide the first report regarding nationwide annual incidence rates for T1DM in youth in Serbia, as well as prevalence of DKA at the time of diagnosis. Data on all pediatric patients with newly diagnosed T1DM was retrospectively collected from all 15 regional centers for pediatric diabetes in Serbia during the period 2007-2017. During the study period, average-standardized incidence of T1DM in youth 19 years was 11.82/100,000, and 14.28/100,000 in 0-14 years age group, with an average yearly increase in incidence of 5.9%. High prevalence of DKA (35.1%) at the time of diagnosis was observed, with highest frequency in children aged 5 years (47.2%).This is the first study reporting the nationwide incidence of T1DM and alarmingly high prevalence of DKA at diagnosis in youth in Serbia. The focus of public health preventive measures should be directed towards the preschoolers, considering the highest frequency and severity of DKA observed in this age group. What is Known: • Knowing regional T1DM incidence is of paramount importance for resource allocation and healthcare services provision. • DKA is the leading cause of acute mortality in youth with T1DM, and public health preventive educational measures could improve early diagnosis and reduce the frequency and severity of DKA at presentation. What is New: • Incidence of pediatric T1DM in Serbia is on the rise, with an average yearly increase of 5.9%. • Worryingly high prevalence of DKA (35.1%) at the time of T1DM diagnosis was observed, with the highest frequency of DKA in children aged 5 years (47.2%).

Roma infants tend to be smaller and are diagnosed as SGA more often than non-Roma infants, suggesting that specific anthropometric norms for these infants may be useful. We aimed to construct population-based centile, gender-specific charts for birth weight and length for singleton Roma infants born from 35 to 42 weeks of gestation and to compare it with anthropometric data of non-Roma infants. We analyzed data on 27,602 non-Roma (53 % males) and 2235 Roma (51 % males) singleton live infants delivered from 2006 to 2012 in South East Serbia. The LMS method was used to estimate the birth weight and length centiles. Roma infants were up to 12 % lighter and up to 4 % shorter than non-Roma infants. Estimated centile charts for Roma males and females were constructed showing the 3rd, 10th, 25th, 50th, 75th, 90th and 97th centiles. We created the separate centile charts for Roma ethnic group. The sample size was sufficient to demonstrate differences in mean birth weights and lengths of at term infants born during the study period.

Cushing’s syndrome is rare in childhood and is usually caused by a pituitary adenoma. Primary hyperfunction of adrenal glands is less frequent, particularly primary pigmented nodular adrenocortical disease (PPNAD). It occurs usually in children and adolescents, with female preponderance, while Cushing’s disease has increased frequency in prepubertal males. A case of a 6-year-old boy is presented with isolated non-familiar PPNAD. The clinical pattern involved Cushingoid appearance, hypertension, virilization and depressive mood. Laboratory analyses showed loss of circadian rhythm of cortisol, undetectable adrenocorticotropic hormone (ACTH) level, impaired fasting glucose, polycythemia and elevated white blood count (WBC). Radiology investigation revealed a slightly enlarged medial branch of the left adrenal gland and a normal right one, so a unilateral adrenalectomy was performed. Pathohistology described multiple dark brownish pigmented nodules of various sizes confined to the cortex. Contralateral adrenalectomy was done 3 months later. Follow-up of 3 years was uneventful, except for one adrenal crisis during an intercurrent respiratory illness.

Metabolic syndrome is a clinical term encompassing risk factors (obesity, insulin resistance, dyslipidemia and hypertension), which yield an increased risk for the development of diabetes mellitus type 2 and cardiovascular disorders in adolescence. Two sets of criteria for diagnosing metabolic syndrome were applied, the criteria for adults, specifically adapted for children, and the criteria defined by the International Diabetes Federation (IDF). A reliability analysis was conducted; sensitivity (SE), specificity (SP), positive predictive value (PPV) and negative predictive value (NPV) of applying certain criteria of both definitions of metabolic syndrome. Metabolic syndrome in adolescents was diagnosed much more frequently using the specific criteria (41%) in comparison to the IDF criteria (22%). Using the specific criteria for children and adolescents, it was established that the HDL cholesterol was the most specific and had the largest PPV. Using the IDF criteria for diagnosing metabolic syndrome, the reliability analysis established that the highest PPV was recorded with the elevated level of triglycerides. The specific criteria have been found to be more efficient in diagnosing metabolic syndrome in adolescents. The highest predictive value was displayed by dyslipidemic disorders, hypertriglyceridemia and hypo HDL cholesterolemia.

Background/Aim. Metabolic syndrome is a clinical term which encompasses obesity, insulin resistance, dyslipidemia, hypertension, as well as an increased risk of the development of diabetes mellitus type 2 and cardiovascular disorders in early adulthood. The prevalence of metabolic syndrome is increasing and directly related to the obesity rate among children. The aim of the research was to compare the established definition of the criteria for diagnosing metabolic syndrome in a sample group consisting of overweight and obese children in Vojvodina. Methods. The research was performed as a cross study analysis of 206 examinees. In terms of the sample group (25% children and 75% adolescents), 74% were obese and 26% overweight according to the body mass index (BMI). Two sets of criteria for diagnosing metabolic syndrome were applied in the sample of adolescents: the criteria for adults, specifically adapted for children, and the criteria defined by the International Diabetes Federation (IDF) for children and adolescents. The research included the analysis of the following criteria: BMI, waist circumference, blood pressure, triglycerides, HDL cholesterol, glycemia and insulinemia during the oral glucose tolerance test (OGTT). Results. By applying the specific criteria for diagnosing the metabolic syndrome in children and adolescents on the whole sample, it was established that the metabolic syndrome was present in 41% of the examinees, while the application of the criteria defined by the IDF confirmed the diagnosis in 22% of the examinees. An analysis of the metabolic syndrome risk factors established that among the defined specific criteria the most frequent factors present were elevated BMI and the pathological results of the OGTT, while the least frequent was low HDL cholesterol. Among the criteria listed by the IDF, the most frequent metabolic syndrome factors were waist circumference and increased blood pressure, while the least frequent was elevated fasting glucose. Conclusion. Metabolic syndrome in overweight and obese children in Vojvodina was diagnosed much more often when the specific criteria for children and adolescents were applied than it was the case when the criteria defined by the International Diabetes Federation were applied.

A girl with congenital adrenal hyperplasia due to 21 hydroxylase (CYP 21, p450c2l) deficiency is the reviewed case. The clinical features (virilisation, clitoromegaly, rapid somatic growth, accelerated skeletal maturation) and laboratory find?ings (high levels of plasma 17hydroxyprogesterone, corticotrophin - ACTH, testosterone and dehydroepiandrostenedione -DHEA, low level of plasma cortisol, high level of urine 17- ketosteroids, synacthen and luteinising hormone releasing hor?mone - LHRH test) and the response to hydrocortisone therapy pointed at heterosexual gonadotrophin independent puberty due to irregular production of cortisol caused by 21 hydroxylase deficiency that leads to elevated ACTH and 17-hydroxy progesterone secretion and makes congenital adrenal hyper?plasia as entity. The six-month therapy resulted in the clinical and laboratory findings improvement, such as the decreased annual growth of body height and the stagnation in the devel?opment of the secondary sexual features.