Iwona Beń-Skowronek

Testicular adrenal rest tumors in boys with congenital adrenal hyperplasia: 3D US and elastography – Do we get more information for diagnosis and monitoring?

BACKGROUND Testicular adrenal rest tumors (TART) are the nodular testicular lesions deriving from the adrenal remnant tissue reported in boys and men with congenital adrenal hyperplasia. Until now, the diagnostics of TART have been based on a combination of clinical features, imaging methods (primarily two dimensional ultrasound--2D US), response of the foci to glycocorticosteroid (GCS) therapy and exclusion of the neoplastic process. Application of 2D US supplies however a limited range of information about the volume, demarcation, structure and vascularization of the lesions. OBJECTIVE To define whether the use of 3D US, power Doppler and elastography changes the algorithm of the diagnostics and monitoring or treatment of TART. MATERIAL AND METHODS In this study, modern ultrasound techniques such as 3D US and elastography were introduced in two boys with TART. RESULTS The 3D power Doppler option gives the opportunity for accurate assessment of the volume of testes and adrenal tissue foci and their vascularization. Sonographic elastography allows the assessment of stiffness of adrenal tissue areas compared to normal testis parenchyma. CONCLUSION The use of these modern techniques enables more adequate and advanced diagnostics, and more precise monitoring of the effects of treatment in patients with TART.

A new CO2 laser technique for the treatment of pediatric hypertrophic burn scars: An observational study

AbstractTreatment of hypertrophic scars arising as a result of thermal burns in children is still a big problem. The results of the treatment are not satisfactory for patients and parents, and new methods of treatment are still investigated.We present the use of one of the most modern carbon dioxide (CO2) lasers (Lumenis Encore laser equipped with a Synergistic Coagulation and Ablation for Advanced Resurfacing module) in the treatment of hypertrophic scars in children after burns.From March to April of 2013, a group of 47 patients aged 6 to 16 years underwent 57 laser surgery treatments. The average time from accident was 7.5 years. The results of treatment were investigated in 114 areas. The assessed areas were divided into 2 groups: 9-cm2 area 1, where the thickness of the scar measured by physician was the lowest and 9-cm2 area 2, where the thickness of the scar was the biggest. The results were considered on the Vancouver Scar Scale (VSS) independently by the surgeon and by parents 1, 4, and 8 months after the procedure. In addition, ultrasound evaluation of the scar thickness before and after laser procedure was made.VSS total score improved in all areas assessed by both the physician and parents. The biggest change in total VSS score in area 1 in the evaluation of the investigator was obtained at follow-up after the 1st month of treatment (average 7.23 points before and 5.18 points after the 1st month after surgery—a difference of 2.05 points). Scar ratings by parents and the physician did not differ statistically (P < 0.05). In the ultrasound assessment, the improvement was statistically significant, more frequently for both minimum and maximum thickness of the scars (B-mode measures) (P < 0.05).The use of a CO2 laser in the treatment of hypertrophic scars in children is an effective and safe method. The use of a CO2 laser improves the appearance and morphology of scarring assessed using the VSS by both the parents and the physician. The treatment also reduced the thickness of scars evaluated by ultrasound.

Seasonal Variation in Month of Diagnosis of Polish Children with Type 1 Diabetes - A Multicenter Study

AIM The seasonal variation of incidence of type 1 diabetes (T1D) theory supports the hypothesis that environmental factors play a role in the onset of the disease. The aim of this study is to assess seasonality of month of diagnosis in children with T1D in Poland. MATERIAL AND METHODS the study group consisted of 2174 children from eastern and central Poland diagnosed with T1D between 2010 and 2014. Analysis was performed in different age groups, based on place of residence (rural/urban area) and depending on sex. RESULTS We noted significant seasonality in the incidence of T1D with a peak in diagnosis of diabetes in January and the minimum rate in June. A total of 423 (19%) children were diagnosed in the warmest months (June to August with a mean temperature of 16.8°C) compared to 636 (29%) recognised in the coldest months (December to February with a mean temperature of -1.6°C), OR 0.57 95%CI [0.51-0.67], p<0.0001. We noted a more flat seasonal pattern in children 0-4 years of age compared with subjects 5-17 years old with a week correlation of trend comparison between both groups, r=0.69, p=0.001. Similar seasonal variation in the incidence of T1D was noted in children from urban and rural setting. For girls, seasonal pattern peaks were observed one month earlier as compared to boys. CONCLUSIONS Seasonal variation in incidence of T1D diagnosis of Polish children supports the role of different environmental factors in diabetes onset. The majority of children were diagnosed with diabetes in autumn and winter.

Epidemiology of type 1 diabetes in Polish children: A multicentre cohort study

The incidence of childhood type 1 diabetes (T1D) varies greatly between populations, and the estimates and/or predictions of the rates would aid in adequate planning of health care resources. The studys aim was to assess the incidence of T1D in the paediatric population of eastern and central Poland.

High incidence of diabetic ketoacidosis at diagnosis of type 1 diabetes among Polish children aged 10‐12 and under 5 years of age: A multicenter study

Despite its characteristic symptoms, type 1 diabetes (T1D) is still diagnosed late causing the development of diabetic ketoacidosis (DKA). The aim of this study was to estimate the incidence of DKA and factors associated with the development of acidosis at T1D recognition in Polish children aged 0‐17.

Factors associated with preservation of C-peptide levels at the diagnosis of type 1 diabetes

AIMS The level of C-peptide can identify individuals most likely to respond to immune interventions carried out to prevent pancreatic β-cell damage. The aim of the study was to evaluate factors associated with C-peptide levels at type 1 diabetes (T1D) diagnosis. METHODS This study included 1098 children aged 2-17 with newly recognized T1D. Data were collected from seven Polish hospitals. The following variables were analyzed: date of birth, fasting C-peptide, HbA1c, sex, weight, height, pH at diabetes onset. RESULTS A correlation was observed between fasting C-peptide level and BMI-SDS (p = 0.0001), age (p = 0.0001), and HbA1c (p = 0.0001). The logistic regression model revealed that fasting C-peptide ≥0.7 ng/ml at diabetes diagnosis was dependent on weight, HbA1c, pH and sex (p < 0.0001). Overweight and obese children (n = 124) had higher fasting C-peptide (p = 0.0001) and lower HbA1c (p = 0.0008) levels than other subjects. Girls had higher fasting C-peptide (p = 0.036) and higher HbA1c (p = 0.026) levels than boys. CONCLUSION Obese and overweight children are diagnosed with diabetes at an early stage with largely preserved C-peptide levels. Increased awareness of T1D symptoms as well as improved screening and diagnostic tools are important to preserve C-peptide levels. There are noticeable gender differences in the course of diabetes already at T1D diagnosis.

Treatment of severe primary IGF-1 deficiency using rhIGF-1 preparation – first three years of Polish experience

INTRODUCTION The objective of this study was to analyse the effects of the first three years of treatment with recombinant human insulinlike growth factor 1 (rhIGF-1) in patients from the Polish population. MATERIAL AND METHODS Twenty-seven children (22 boys and five girls) aged 2.8 to 16.0 years old were qualified for treatment with rhIGF-1 (mecasermin) in different treatment centres, according to Polish criteria: body height below -3.0 SD and IGF-1 concentration below percentile 2.5 with normal growth hormone (GH) levels. Mecasermin initial dose was 40 μg/kg bw twice a day and was subsequently increased to an average of 100 μg/kg bw twice a day. Body height, height velocity, weight, body mass index (BMI), and adverse events were measured. RESULTS Mecasermin treatment resulted in a statistically significant increase in body height (1.45 ± 1.06 SD; p < 0.01) and height velocity in comparison with pre-treatment values. The biggest change in height velocity happened during the first year and diminished during subsequent years. Body weight and BMI also increased significantly after treatment (1.16 ± 0.76 SD and 0.86 ± 0.75 SD, respectively; p < 0.01). Eight patients reported adverse events. These were mild and temporary and did not require treatment modification except in two patients. CONCLUSIONS Treatment with rhIGF-1 was effective and safe in Polish patients with primary IGF-1 deficiency. It had a clear beneficial effect on the height of the patients and significantly accelerated the height velocity, particularly in the first year of treatment.

Treatment of impalpable testis – one clinic’s experience

Introduction Undescended testes are recognised in 1% to 2% of boys during the first year of life, and about 20% of them are impalpable. Ultrasonography (US) may establish the localisation of the testis but the final diagnosis is usually determined laparoscopically. Aim To evaluate long-term results of laparoscopic treatment of boys with impalpable testes and sensitivity of preoperative ultrasound. Material and methods Between 2011 and 2015, we operated on 545 boys with undescended testes. Sixty-two of them with 65 impalpable testes were treated laparoscopically – the study group. Mean age was 3.5 years. The study group was divided into 5 groups according to type of treatment. The volume and position of the operated gonad were assessed manually and by ultrasound. Results In group 1 testicular agenesis was observed in 19 patients. In group 2 revision of the inguinal canal revealed testicular agenesis in 7 and atrophy in 4 patients. In group 3 conversion to classic orchiopexy was performed in 10 patients. In group 4 one-stage orchiopexy was performed in 9 patients on 12 testes. In group 5 a two-stage F-S procedure was performed in 13 patients. Ten testes in group 4 had a volume in the normal range (84%) and also 10 testes in group 5 (77%). Conclusions Laparoscopy in impalpable testes is the procedure of choice and allows definitive management, even when conversion to open procedure is necessary. Sensitivity of preoperative ultrasound is generally about 60% for true intra-abdominal testes, so diagnostic laparoscopy is necessary.

Premature atherosclerosis after treatment for acute lymphoblastic leukemia in childhood

INTRODUCTION Late cardiovascular complications are the leading causes of morbidity and mortality in patients treated for common malignancies of childhood. Late cardiotoxicity include increased development of atherosclerosis and atherosclerosis - related diseases. An evaluation of the endothelium can be made based on the measurement of endothelium-derived blood vasoactive factors, such as cytokines and adhesion molecules. Their elevated serum levels may serve as sensitive indicators of early atherosclerotic lesions in high risk patients. Currently, assessment of common carotid intima-media thickness has emerged as one of the more powerful tools for evaluation of subclinical atherosclerosis. The purpose of this study was to compare these parameters between patients after antineoplatic treatment compared to persons not exposed to such factors. MATERIAL AND METHODS Early progression of atherosclerotic disease was evaluated in 64 survivors treated for Acute Lymphoblastic Leukaemia (ALL) in childhood, and in a control group of 36 healthy volunteers. Blood serum concentrations of selected new biomarkers, indicative of endothelial damage and inflammatory activity, were measured, including intercellular adhesion molecule-1 (sICAM-1), endothelial leukocyte adhesion molecule-1 (E-selectin), thrombomodulin (TM), interleukin 6 (IL-6), and high-sensitivity C-reactive protein (hs-CRP). The common carotid intima-media thickness (IMT) was also assessed via ultrasound examination. RESULTS Significantly higher blood concentrations of sICAM-1 adhesive molecule (229.3±62.2 ng/mL vs. 199.9 ± 63.3 ng/ mL, p=0.0072) and IL-6 (2.1 ± 2.7 pg/mL vs. 1.9 ± 3.6 pg/mL, p=0.0414) were found in ALL survivors compared with control subjects. Concentration of hs-CRP was also higher in the ALL group: 1.3 ± 2.2 ug/mL vs. 0.6 ± 0.9 ug/mL. This difference was close to statistical significance (p=0.0599). The mean IMT values for right and left carotid arteries were higher in ALL patients after antineoplastic therapy, compared with healthy subjects (IMT-R 0.056±0.008 mm vs. 0.052±0.003 mm; p=0.0021; IMT-L 0.057±0.009 mm vs. 0.052±0.003 mm; p=0.0051). CONCLUSIONS Survivors of childhood ALL in the examined group demonstrated elevated concentrations of selected new biomarkers and increased IMT values, compared to controls, which may confirm the occurrence of endothelial injuries in blood vessels. This study indicates that subjects treated for childhood malignancy are at a higher risk of prematurely developing atherosclerosis.

Resistance to thyroid hormone in an adolescent patient with signs of hyperthyroidism- efficient treatment with bromocriptine in a 2-yearfollow-up. A case report

Resistance to thyroid hormone due to defective thyroid hormone receptor β (RTHβ) is characterized by markedly elevated thyroid hormone levels accompanied by an inappropriately normal or slightly elevated thyroid-stimulating hormone (TSH) level. The most typical clinical manifestations of RTHβ (frequent occurrence of tachycardia, goiter, and hyperkinetic behavior with not often seen mental retardation or short stature) results from euthyroid state in organs where the affected receptor is predominant and hyperthyroidism where thyroid hormones act with the wild type of thyroid receptor β (WT TRβ). We report here an adolescent patient with signs of hyperthyroidism associated with RTHβ (phenotypic pituitary resistance to thyroid hormone, PRTH) and identified known mutation in the TRβ gene (G344E) previously described in this syndrome. Due to the presented symptoms, she required therapy and finally a dopamine agonist (bromocriptine, BC) was used. A cardioselective β-bloker (atenolol) was associated to obtain heart rate normalization. This safe and efficient BC therapy for RTH in a 2-year follow-up seems to confirm our therapeutic choice. Pediatr. Endocrinol. 2016.14.1.54.63-70.