A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up.

Neonatal diabetes mellitus is a rare monogenic disease with incidence of 1/90,000 newborns. 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.

Primary pigmented nodular adrenocortical disease: literature review and case report of a 6-year-old boy.

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.

Pancreas divisum: analysis and therapeutic alternatives with a case report.

INTRODUCTION: Pancreas divisum is a relatively common pancreatic duct anatomic variant, firstly described in the 17th century. CASE REPORT: We reported a 2-year-old child admitted to the Pediatric Clinic with breathing difficulties and abdominal pains. Examination and X-ray image, showed a vast right hydrothorax containing rusty coloured solution with a high degree of amylase. Ultrasound and computed tomography examination revealed pancreatic polycyclic pseudocysts; following magnetic resonance cholangiopancreatography (MRCP), the diagnosis of pancreas divisum was confirmed. The general condition of the patient worsened, requiring an urgent operation. External drainage of the perforated pancreatic pseudocyst was performed. Following external fistula maturation, a change from external to internal drainage was performed using Roux-en-Y fistulojejunostomy. A 3-year postoperative period was uneventful. CONCLUSION: Pancreas divisum cases are unique requiring clinical experience, rational approach, and complex multimodal management. MRCP is a valuable diagnostic method. Amongst therapeutic options, outer and internal drainage can be seen as reliable methods. Further investigations are absolutely required to determine practical and appropriate conclusions.

[Idiopathic short stature].

Growth is a complex process and the basic characteristic of childhood growth monitoring provides insight into the physiological and pathological events in the body. Statistically, the short stature means departure from the values of height for age and sex (in a particular environment), which is below -2 standard deviation score, or less than -2 standard deviation, i.e. below the third percentile. Advances in molecular genetics have contributed to the improvement of diagnostics in endocrinology. Analysis of patients' genotypes should not be performed before taking a classical history, detailed clinical examination and appropriate tests. In patients with idiopathic short stature specific causes are excluded, such as growth hormone deficiency,Turner syndrome, short stature due to low birth weight, intrauterine growth retardation, small for gestational age, dysmorphology syndromes and chronic childhood diseases. The exclusion of abovementioned conditions leaves a large number of children with short stature whose etiology includes patients with genetic short stature or familial short stature and those who are low in relation to genetic potential, and who could also have some unrecognized endocrine defect. Idiopathic short stature represents a short stature of unknown cause of heterogeneous etiology, and is characterized by a normal response of growth hormone during stimulation tests (>10 ng/ml or 20 mJ/I), without other disorders, of normal body mass and length at birth. In idiopathic short stature standard deviation score rates <-2.25 (-2 to -3) or <1.2 percentile. These are also criteria for the initiation of growth hormone therapy. In children with short stature there is also the presence of psychological and social suffering. Goals of treatment with growth hormone involve achieving normal height and normal growth rate during childhood.

Vitiligo and thyroid dysfunction in children and adolescents.

The link between vitiligo and thyroid disease has been proved in adult patients. The aim of our study was to assess the prevalence of thyroid dysfunction in children and adolescents with vitiligo and to identify any predisposing factors of this association. This retrospective study included 75 children and adolescents with vitiligo: 47 (62.66%) females and 28 (37.33%) males. Physical examination, thyroid ultrasonography and laboratory parameters of thyroid disease were performed in all study subjects. Various degrees of thyroid parameter alterations were found in 19 (25.33%) of 75 patients. Hashimoto's thyroiditis associated with non-segmental vitiligo was present in 11 (14.66%) patients. The most common site of vitiligo onset in patients with Hashimoto's thyroiditis were upper limbs, which was significantly more frequent compared with patients without Hashimoto's thyroiditis (χ(2); P<0.05). Since vitiligo usually appears before the development of thyroid disease, it may be useful to screen the children and adolescents with vitiligo for thyroid autoantibodies.

[Comparison of the established definition criteria for diagnosing metabolic syndrome between overweight and obese children in Vojvodina].

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 fac- tors 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.

Regional differences in maturation of germ cells of cryptorchid testes: role of environment.

OBJECTIVE: To investigate differences in maturation of germ cells in cryptorchid testes in three different regions. PATIENTS AND METHODS: A total of 103 consecutive patients were operated for unilateral undescended testis in Vojvodina, from March 2006 until September 2007, and had a testicular biopsy performed. Germ cells were counted, and the presence of Ad spermatogonia was noted. Biopsies were compared to biopsies of similar patients from two different regions: Philadelphia, USA (130), and Liestal, Switzerland (55 patients). RESULTS: In Vojvodina, 84.5% of patients had Sertoli cells only, or some spermatogonia, but no Ad spermatogonia, and 15.5% had Ad spermatogonia. In Philadelphia, 59.3% of patients had poor testicular histology, and 40.7% had Ad spermatogonia. In Liestal, 61.8% of patients had no, or some, spermatogonia, but no Ad spermatogonia, and 38.2% had Ad spermatogonia. There was a difference (p = 0.000025) between the patients with normal testicular histology from Philadelphia and those from Vojvodina, as well as between the patients from Vojvodina and Liestal (p = 0.0027). CONCLUSION: The reduction in the number of germ cells in patients with cryptorchidism from Vojvodina is more pronounced than patients from either Switzerland or USA. This is a unique observation, since such a study has not been published yet.

[Congenital adrenal hyperplasia due to 21 hydroxylase deficiency--case report].

A girl with congenital adrenal hyperplasia due to 21 hydroxylase (CYP 21, p450c21) deficiency is the reviewed case. The clinical features (virilisation, clitoromegaly, rapid somatic growth, accelerated skeletal maturation) and laboratory findings (high levels of plasma 17hydroxy-progesterone, corticotrophin--ACTH, testosterone and dehydroepiandrostenedione--DHEA, low level of plasma cortisol, high level of urine 17-ketosteroids, synacthen and luteinising hormone releasing hormone--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 hyperplasia 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 development of the secondary sexual features.

[The importance of oxidative stress in pathogenesis of type 1 diabetes--determination of catalase activity in lymphocytes of diabetic patients].

INTRODUCTION: Type 1 diabetes is a protoype of disease with an intensive oxidative stress. The oxidative stress means disturbing dynamic balance between prooxidants and antioxidants, either due to the increased production of the oxygen free radicals or the decreased antioxidant activity. The antioxidative enzyme catalase diminishes free radical hydrogen-peroxyde, which can be very toxic to pancreatic cells. MATERIAL AND METHODS: Our study included 40 children with type 1 diabetes. We analysed the activity of enzyme catalase in lymphocytes in different phases of disease: at the beginning of diabetes, in remission period and in the later chronic course. RESULTS: There is a significant increase in the catalase activity during all phases of disease (p<0.00001) compared with the control group. The highest catalase activity occurs in the early course of disease (p<0.05) followed by a linear decrease and the lowest activity in chronic course. If metabolic control gets worse, the catalase activity gets higher with statistic significance at p<0.05. A higher residual beta cells secretion is associated with a lower catalase activity. Therefore, the catalase activity is in direct corelation with GHbA1 (r=0.895), and inverse correlation with C-peptide (r=-0.945). DISCUSSION AND CONCLUSION: A significant increase in the catalase activity in all phases of type 1 diabetes indirectly confirms the importance of the oxidative stress in pathogenesis of disease. The activation of catalase is probably the secundary phenomenon. The fact that the catalase activity reaches its highest values at the beginning of diabetes could implicate the predictive value of catalase determination.