The age of the obesity onset is a very important factor for the development of metabolic complications and cardiovascular risk in children and adolescents with severe obesity.

Severe obesity defined as BMI value corresponding to an adult > 40 kg/m2 affects 1-5% of children and adolescents in Europe. The purpose of this study was to assess the occurrence of cardiovascular risk factors in children and adolescents with severe obesity. The analysis included 140 patients (75 female) at the mean age of 14 ± 2.1 SD (range 10-18) years (all recruited in 4 regional reference centers in Poland). Severe obesity was defined as BMI > 35 kg/m2 (children 6-14 years), and BMI > 40 kg/m2 (> 14 years). Fasting plasma samples have been obtained in all patients, and OGTT was performed in all patients. The metabolic risk factors were defined as high blood pressure (BP > 90 percentile for height, age, and sex), HDL cholesterol < 1.03 mmol/L, TG ≥ 1.7 mmol/L, and hyperglycemic state (fasting blood glucose > 5.6 mmol/L, or blood glucose 120' after oral glucose load > 7.8 mmol/L). Additionally, the MetS z-score was calculated using Metabolic Syndrome Severity Calculator. One hundred twenty-four (89%) participants presented with high BP, 117 (84%) with abnormal lipid profile, and 26 with the hyperglycemic. Only 12 (9%) were free of metabolic complications. More than 60% of patients had more than one cardiovascular risk factor. The high BP was significantly associated with the severity of obesity (F = 9.9, p = 0.002). Patients with at least one metabolic complication presented with significantly younger age of the onset of obesity (the mean age of the patients with no overt obesity complications was 10 years, while the mean age of those who presented at least one was 4.7 ± 3.5 SD years (p = 0.002)). A significant positive association between in the value of the Mets BMI z-score with age was observed (R = 0.2, p < 0.05). There were no differences between girls and boys regarding Mets BMI z-score (1.7 ± 0.8 vs 1.7 ± 0.7, p = 0.8).Conclusions: The most common metabolic risk factor in children and adolescents with severe obesity was high BP. The most important factor determining presence of obesity complications, and thus the total metabolic risk, seems to be younger (< 5 years) age of onset of obesity. What is Known? • It is estimated that 1-5% of children and adolescents in Europe suffer from severe obesity corresponding to an adult BMI > 40 kg/m2, and it is the fastest growing subcategory of childhood obesity. • Children with severe obesity face substantial health risk that may persist into adulthood, encompassing chronic conditions, psychological disorders and premature mortality. What is new: • The most common complication is high BP that is significantly associated with the severity of obesity (BMI z-score), contrary to dyslipidemia and hyperglycemic state, which do not depend on BMI z-score value. • The most important factor determining presence of obesity complications, and thus the total metabolic risk, seems to be younger (< 5 years) age of onset of obesity.

Chemerin serum levels in girls with anorexia nervosa.

BACKGROUND: The regulatory function of chemerin (CHEM) in the process of adipogenesis and the metabolism of adipocytes has been confirmed. Data from several studies have shown higher serum CHEM in obesity. To date, there are no available studies on serum CHEM concentrations in patients with anorexia nervosa (AN), which is recognized as a good biological model of the chronic atrophy of adipose tissue and energy metabolism disorders in humans. OBJECTIVES: The aim of the study was to assess serum CHEM concentrations in girls with AN in comparison to healthy and obese subjects and determine its relationship with body mass, BMI and insulin. METHODS: CHEM serum concentrations were evaluated using commercially available ELISA kit in 65 Polish girls with restrictive AN, in 39 healthy controls (H) and 64 girls with simple obesity (OB). RESULTS: The mean serum CHEM concentration in the AN group was significantly lower than in the H and OB groups. After adjusting for BMI, CHEM concentrations in the AN group were significantly lower than in the H group, but statistically higher than in the OB group. Significant correlations between serum CHEM and body mass (r=0.77), BMI (r=0.82), Cole index (r=0.81) and serum insulin (r=0.78) were observed.

[Subclinical hypothyroidism in obese children]. / Subkliniczna niedoczynnosc tarczycy u otylych dzieci.

Subclinical hypothyroidism (SH) is defined as an elevated thyroid stimulating hormone (TSH) associated with normal levels of free thyroxine. In obese persons prevalence of SH is significantly higher than in general population. SH is of particular interest in children with respect to the crucial role of thyroid hormones in the development of central nervous system and linear growth. Currently there is no general consensus on the treatment of SH with L-tyroxine. It is suggested that this hormonal state is rather a consequence that the cause of the overweight status.

Usefulness of magnetic resonance findings of the hypothalamic-pituitary region in the management of short children with growth hormone deficiency: evidence from a longitudinal study.

PURPOSE: The purpose of this study is to assess the relationship between magnetic resonance images (MRI) of the hypothalamic-pituitary (H-P) region and response to recombinant human growth hormone (rhGH) treatment in short children with growth hormone deficiency, basing on changes of auxologic parameters, as well as to answer the question if MRI may serve for selecting and monitoring the rhGH responders. PATIENTS AND METHODS: The study group comprised 85 children treated with rhGH, aged 7.3-18.7 years, followed for the mean period of 3.2 years (range, 2.1-9.5 years). Auxologic parameters (height deficit hSDS, deviation from the mid-parental height hSDS-mpSDS, bone delay index bone age/chronological age ratio (BA/CA)) were assessed before, during and at the end of rhGH treatment; growth velocity was calculated before and during rhGH therapy. Parameters were correlated with the MRI of the H-P region. RESULTS: Structural anomalies of the H-P region were found in 22 (25.9%) children: empty sella syndrome (ESS) in 12 (14.1%) patients, ectopic posterior pituitary (EPP) in ten (11.8%). Patients' height deficit and their deviation from parental height before rhGH therapy was significantly greater in the EPP group (median hSDS = -3.8; hSDS-mpSDS = -2.5), bone age delay was the greatest in the ESS group (median BA/CA = 0.69), after therapy - in the EPP group (median BA/CA = 0.82). Growth velocity improved in the first year of the rhGH therapy in all groups; however, the most significant acceleration was observed in the EPP group (median delta hSDS = 0.9), then stabilised and was comparable in all groups. CONCLUSIONS: MRI may be helpful in predicting response to the rhGH treatment, providing midline abnormalities are taken into account.

[Acute alcohol intoxication among children and adolescents admitted to the Department of Pediatrics, Pediatric Endocrinology and Diabetes, Medical University of Silesia, Katowice during 2000-2010--preliminary study]. / Zatrucia alkoholem etylowym wsród dzieci i mlodziezy hospitalizowanych w Klinice Pediatrii, Endokrynologii i Diabetologii Dzieciecej Górnoslaskiego Centrum Zdrowia Dziecka w Katowicach w latach 2000-2010--doniesienie wstepne.

The alcohol drinking at the young age is a risk factor of alcohol addiction later in life, and is connected with school problems, binge drinking, tobacco addiction, illegal drug use, violence, crime commitment, and risky sexual behaviors. Alcohol drinking in the last 12 months is declared by 78% Polish children. The aim of the study was to evaluate the frequency of admissions due to alcohol intoxication to the Department of Pediatrics, Pediatric Endocrinology and Diabetes, Pediatric Center of Silesia and the identification of the risk factors of the acute alcohol intoxication among Polish children and adolescents. Ten-year retrospective study includes investigation of patients medical records from the Department of Pediatrics. Among 8048 patients hospitalized in the Department of Pediatrics between the years 2000-2010, 220 (2.7%) cases of acute alcohol poisoning occurred The detailed data analysis from 139 patients [66 (47.5%) girls, 73 (52,5%) boys] was done. In the years 2006-2010 the number of girls admitted to the department increased in comparison to boys. The largest group of patients was at age between 14 and 16 years [61 (44%) children]. The blood alcohol concentration at the moment of admission to the hospital was 0.1 to 4.0 per thousand. In most cases (92.8%) the alcohol intoxication was intentional. Five percent of them were suicide attempts. In the youngest group of children alcohol abuse was unintentional. 23 (16.5%) of patients initially needed admission to the intensive care unit. In 30 (21.6%) patient the family was incomplete and five times more often father was absent. The alcohol addiction occurs in 18 (13.0%) fathers and 10 (7.2%) mothers of our patients. It is concluded that over the last decade the number of girls admitted due to alcohol abuse increased. Children at school grade between 7-9 are intoxicated most often. One six of intoxicated patents needed hospitalization at intensive care unit.

The prevalence of autoimmune thyroiditis in adolescent girls with polycystic ovary syndrome.

OBJECTIVES: Both polycystic ovary syndrome (PCOS) and autoimmune thyroiditis (AT) are reported to be common endocrinopathies. In recent years the number of publications assessing the coexistence of these two disease entities in adult women has been growing. There are many suggestions regarding pathophysiological mechanisms that can cause the relationship between AT and PCOS. However, there is still a lack of research among adolescent girls. The aim of the study was to analyze the occurrence of autoimmune thyroiditis in adolescent girls with PCOS. MATERIAL AND METHODS: The study group included 80 girls diagnosed with PCOS (chronological age: 16.54 ± 1.00 years, BMI: 22.80 ± 3.27 kg/m2), and the control group - 64 regularly menstruating girls (chronological age: 16.71 ± 0.63 years, BMI: 24.8 ± 5.2 kg/m2). The thyroid function and morphology were assessed based on the concentration of thyroid stimulating hormone (TSH), free thyroxine (fT4), anti thyroid peroxidase (anti-TPO), anti-thyroglobulin (anti-TG) antibodies and ultrasound scan of the thyroid gland. RESULTS: AT was diagnosed in 18 (22.5%) girls from the study group and nine (14.06%) from the control group (p > 0.05). Positive anti-TPO titer was observed more often in the study group [21 patients (26.25%)] than in the control group [9 girls (14.06%)] (p = 0.054). Moreover, an abnormal ultrasound scan of the thyroid gland characteristic for AT was found in 18 girls from the study group (22.50%) and 8 girls from the control group (12.50%) (p > 0.05). CONCLUSIONS: The results of the analyzed studies do not confirm a significant relationship between PCOS and AT in adolescent girls. However, in the group of girls with PCOS, autoimmune process exponents were more frequent (anti-TPO), reaching the borderline level of statistical significance.

Selected Factors of Vascular Changes: The Potential Pathological Processes Underlying Primary Headaches in Children.

BACKGROUND: The prevalence, social consequences and complicated pathogenesis make headaches in children a significant clinical issue. Studies in adults suggest that primary headaches could be the first sign of atherosclerosis and platelet aggregation. AIM: To analyze the blood levels of selected biomarkers of vascular changes potentially associated with a higher risk of atherosclerosis in children with primary headaches. METHODS: The medical family history, brain-derived neurotrophic factor (BDNF), soluble CD40 ligands (sCD40L), endothelial plasminogen activator inhibitor (PAI I), vascular endothelial growth factor (VEGF) and intima-media thickness (IMT) measurements were performed in the 83 children (52 with primary headaches, 31 controls). Selected factors were compared with basic laboratory parameters that are potentially related to atherosclerosis: C-reactive protein (CRP) and lipid concentration. RESULTS: There were no significant differences in biomarkers of vascular changes in the study group and controls in general. In the study group, boys had a higher BDNF level than girls (p = 0.046). Normal-weight migraine patients had significantly higher PAI-I levels than controls (p = 0.034). A positive correlation between PAI-1 and triglycerides (TG) was observed. IMT did not differ between children with primary headaches and controls; however, IMT showed a positive correlation with BMI z-score and TG. Children with headaches had, more often, a positive family history of cardiovascular disease (p = 0.049). CONCLUSIONS: There were no clear clinical changes indicative of atherosclerosis in the study population. However, some trends are visible. Primary headaches are more often related to a family history of cardiovascular diseases. IMT is associated with TG levels and BMI z-score. The measured biomarkers of vascular changes show mutual relations.

Statin therapy and lipids-lowering supplements - safe and effective treatment of lipids disturbances in children.

INTRODUCTION: There is a significant correlation between elevated LDL cholesterol (LDL-C) levels sustained from childhood and future vascular disease. The study aimed to evaluate the effectiveness and safety of the therapy chosen for children with lipid disorders. MATERIAL AND METHODS: The study group consisted of 37 children with increased LDL-C (13 boys) aged 8.99 ±4.03 years. After 6 months of behavioral treatment, study group was divided into G1 (n = 24) which continued non-pharmacological treatment supported by dietary supplements and G2 (n = 13) in which statin (5-10 mg/day) was added to non-pharmacological treatment. Analysis included: BMI Z-score, total cholesterol (TCh), LDL-C, HDL cholesterol (HDL-C) and triglycerides (TG) measured at several time points. RESULTS: The concentrations of TCh and LDL-C before treatment were significantly higher in G2 than in G1 (p < 0.001). Due to the treatment, these differences were no longer noticeable at the last visit. In G1 and G2 concentrations of TCh and LDL-C were reduced significantly, greater reduction after the treatment in TCh and LDL-C was observed in G2 than in G1. Moreover, in G1 we noticed reduction of TG after treatment (p < 0.05). The BMI Z-score did not change significantly through the treatment in both groups. G1 also showed a significant negative correlation between BMI Z-score and HDL-C before and after treatment (r = -0.57, p = 0.009; r = -0.52, p = 0.02). Same relationship was noticed also in G2 after treatment (r = 0.67, p = 0.05). CONCLUSIONS: In children with dyslipidemia, regardless of its background, statin therapy is the most effective in lowering LDL-C. However, therapy with lipids-lowering supplements seems to be safe and effective.

Clinical, genetic, and epidemiological survey of Polish children and adolescents with severe obesity: A study protocol of the Polish-German study project on severe early-onset obesity.

Severe early-onset obesity (SEOO) in children is a common feature of monogenic obesity. Nowadays, mutations in at least 50 genes are known to be related to monogenic obesity, and many others are tested. Part of them is involved in the leptin-proopiomelanocortin pathway. The aim of the project is to establish the Polish database of severely obese children and adolescents and to evaluate the prevalence of monogenic forms of obesity in this cohort, with a special focus on leptin-proopiomelanocortin pathway abnormalities. The secondary project aim is to identify new population-specific mutations in obesity-related genes in severely obese Polish children and adolescents. This is a prospective multi-center clinical study performed in four Polish centers. The estimated sample size is 500 patients aged 1-18 years, with severe obesity, hyperphagia, and food-seeking behaviors. In each patient, the medical history regarding the obesity duration in the patient and obesity and its complication existence in the family will be taken. Next, the questionnaire regarding the symptom characteristic of specific mutations, which we are going to test, will be performed. Hyperphagia will be assessed on the basis of age-specific questionnaires. The physical examination with anthropometric measurement, basic biochemical and hormonal tests, and leptin and biologically active leptin measurements will be performed. Finally, genetic analysis will be performed using next-generation sequencing with sequencing libraries prepared to include obesity-related genes. The genotyping findings will be confirmed with the use of classic sequencing (Sanger's method). In the future, the pathogenicity of new mutations in obesity-related genes identified in our cohort is planned to be confirmed by functional testing in vitro. Nowadays, there are no data regarding the prevalence of severe obesity or monogenic obesity in Polish children. This project has the potential to improve understanding of obesity etiology and may contribute to implementing attribute mutation-specific treatment. Moreover, it may lead to a finding of new, population-specific mutations related to SEOO.

Diagnosis and treatment of thyroid cancer in adult patients - Recommendations of Polish Scientific Societies and the National Oncological Strategy. 2022 Update [Diagnostyka i leczenie raka tarczycy u chorych doroslych - Rekomendacje Polskich Towarzystw Naukowych oraz Narodowej Strategii Onkologicznej. Aktualizacja na rok 2022].

The guidelines Thyroid Cancer 2022 are prepared based on previous Polish recommendations updated in 2018. They consider international guidelines - American Thyroid Association (ATA) 2015 and National Comprehensive Cancer Network (NCCN); however, they are adapted according to the ADAPTE process. The strength of the recommendations and the quality of the scientific evidence are assessed according to the GRADE system and the ATA 2015 and NCCN recommendations. The core of the changes made in the Polish recommendations is the inclusion of international guidelines and the results of those scientific studies that have already proven themselves prospectively. These extensions allow de-escalation of the therapeutic management in low-risk thyroid carcinoma, i.e., enabling active surveillance in papillary microcarcinoma to be chosen alternatively to minimally invasive techniques after agreeing on such management with the patient. Further extensions allow the use of thyroid lobectomy with the isthmus (hemithyroidectomy) in low-risk cancer up to 2 cm in diameter, modification of the indications for postoperative radioiodine treatment toward personalized approach, and clarification of the criteria used during postoperative L-thyroxine treatment. At the same time, the criteria for the preoperative differential diagnosis of nodular goiter in terms of ultrasonography and fine-needle aspiration biopsy have been clarified, and the rules for the histopathological examination of postoperative thyroid material have been updated. New, updated rules for monitoring patients after treatment are also presented. The updated recommendations focus on ensuring the best possible quality of life after thyroid cancer treatment while maintaining the good efficacy of this treatment.

Levels of Lipid Parameters in Children with Arterial Ischemic Stroke and Headache: Case-Control Study and Meta-Analysis.

Background: Abnormalities in levels of lipid parameters are one of the main causes of cardiovascular and cerebrovascular disease in adults. There are limited data on the role of disturbances of lipid metabolism in the etiopathogenesis of arterial ischemic stroke (AIS) in children and the results provided are ambiguous. The aim of the study was to compare the levels of lipid parameters (total cholesterol [TC], triglycerides [TG], high-density lipoprotein [HDL] and low-density lipoprotein [LDL]) between children with AIS, children with headache and healthy children. In addition, we performed meta-analysis of available data on lipid parameters in young patients with AIS. Methods: We retrospectively analyzed 218 children hospitalized between 2002 and 2018 in the Upper-Silesian Child's Health Center (n = 82 children with AIS, n = 45 children with headache, n = 91 healthy children) with available data on lipid levels, i.e., TC, TG, and HDL. The levels of LDL, non-HDL cholesterol, and a very-low density lipoprotein (VLDL) were calculated. The ratios of TC/HDL, TG/HDL and LDL/HDL were also assessed. Data between cases and controls were analyzed using STATISTICA 13.0 whereas meta-analysis was performed with RevMan version 5.4 software. Results: Children with headache were significantly older than children with AIS (p = 0.001). Ten percent of children with AIS had posterior stroke. The mean TC level was significantly higher in the AIS children than in controls or in children with headache. Mean TG and VLDL levels were significantly different between all groups (p < 0.001 each). The hypertriglyceridemia was more prevalent in AIS children than in children with headache (39% vs. 13%, OR = 4.16 95% CI 1.58-10.94, p = 0.004). Similarly, the frequency of dyslipidemia was higher in children with AIS compared to children with headache (38% vs. 22%, OR = 2.13 95% CI 0.93-4.89, p = 0.078). The meta-analysis was conducted based on data from 4 studies (3 studies published previously plus the results we obtained in the present case-control analysis) with total number of 236 young patients with AIS and 272 healthy controls. Significant Standard Mean Difference (SMD) was found in triglycerides level between young patients with AIS and controls (0.78 95%CI 0.30-1.26 p = 0.002). Conclusions: Lipid abnormalities, especially levels of triglycerides, seem to be of particular importance in children with AIS, as confirmed in meta-analysis. The results of the present study may be a significant contribution to the further research on the role of lipid metabolism disorders in the development of childhood stroke.

Bone mineral density and metabolism in levothyroxine-treated adolescent girls with euthyroid diffuse goiter.

INTRODUCTION: Bone and mineral metabolism is influenced by thyroid hormones, and levothyroxine (LT(4)) therapy may be associated with reduced bone mass in postmenopausal women. MATERIAL AND METHODS: The aim of the study was to assess the influence of one year of LT(4) treatment in a group of 21 adolescent girls with euthyroid diffuse goiter. Lumbar (L(2)-L(4)) and total body bone mineral density (TOBMD) (Lunar - DXA), serum PTH, osteocalcin, bone alkaline phosphate, vitamin D(3), calcium, and phosphorus levels and urinary excretion of Ca, P, and hydroxyproline were measured before and after one year of combined LT(4) and iodine treatment. RESULTS: Patients were matched for age, sex, BMI, and maturation status, with controls treated with iodine only. Markers of bone turnover changed in a similar manner in both groups. There was no significant difference in TOBMD value after one year of therapy between LT(4) treated group and controls. Densitometric lumbar spine parameters increased significantly after 12 months in both groups, with no significant differences between them. CONCLUSION: It can be concluded that one year of LT(4) treatment of adolescent girls with euthyroid diffuse goiter does not have a negative impact on their bone remodelling and metabolism. (Pol J Endocrinol 2010; 61 (1): 14-19).

Headache in Children: Selected Factors of Vascular Changes Involved in Underlying Processes of Idiopathic Headaches.

Headaches are common complaints in children. The International Classification of Headache Disorders, 3rd edition (beta version), defines more than 280 types of headaches. Primary headaches refer to independent conditions that cause pain and include migraine, tension-type headaches (TTH), and trigeminal autonomic cephalalgias (TACs). Several agents are involved in the pathogenesis of headaches. The factors associated with predisposition to atherosclerosis seem to be particularly important from the clinical point of view. The influence of obesity on the incidence of headaches has been well established. Moreover, idiopathic headaches, especially migraine, are thought to be one of the first signs of disorders in lipid metabolism and atherosclerosis. The risk of migraine increases with increasing obesity in children. Another factor that seems to be involved in both obesity and headaches is the adiponectin level. Recent data also suggest new potential risk factors for atherosclerosis and platelet aggregation such as brain-derived neurotrophic factor (BDNF), sCD40L (soluble CD40 ligand), serpin E1/PAI I (endothelial plasminogen activator inhibitor), and vascular endothelial growth factor (VEGF). However, their role is controversial because the results of clinical studies are often inconsistent. This review presents the current knowledge on the potential markers of atherosclerosis and platelet aggregation, which may be associated with primary headaches.

Growth hormone therapy in children with partial growth hormone deficiency. Are we treating the right patients?

INTRODUCTION: Diagnosis of growth hormone deficiency (GHD) in children with short stature, whose height is below -2SD for the population norm, is based on the assessment of growth hormone (GH) peaks in stimulation tests. However, cut-off values for GH secretion are arbitrary and vary in different centres. Indications for recombinant GH therapy remain disputable in children with GH concentrations between 5 and 10 ng/ml (pGHD). AIM OF THE STUDY: The aim of our study was to assess the effects of rhGH therapy in children with transient pGHD deficiency compared to untreated children with idiopathic short stature (ISS). MATERIAL AND METHODS: The study group comprised 54 patients at the mean age of 13.5 (SD 2.36) years, who were diagnosed as pGHD and treated with rhGH. The control group comprised 32 subjects with ISS matched for sex and age, untreated with rhGH. RESULTS: Mean final height was within the normal range for population norms in both groups. The average height gain was statistically significant at -1.3 SD (p < 0.001) for the study group and -1.02 SD (p ≤ 0.001) for the control group. However after exclusion of children with familial short stature (FSS) the height gains were, respectively, 1.41 SD ±0.67 for the study group and 1.22 SD ±0.77 for the control group, without statistical significance. CONCLUSIONS: The results of our study did not show beneficial effects of rhGH treatment in children with pGHD as compared to untreated ISS subjects. Therefore, it is necessary to determine criteria other than arbitrarily established GH concentration for starting rhGH treatment in children with pGHD.

Relative leptin deficiency in children with severe early-onset obesity (SEOO) - results of the Early-onset Obesity and Leptin - German-Polish Study (EOL-GPS).

Background Severe early-onset obesity (SEOO) in children is a common feature of monogenic obesity. Gene defects of the leptin-melanocortin pathway can be analysed biochemically and genetically. The aim of this study was to search for children with leptin deficiency or biologically inactive leptin in a cohort of children with SEOO and to study associations between leptin parameters and anthropometric data. Methods The cohort included n = 50 children with SEOO (22 boys) who were recruited at one of four study centres (Germany: Ulm; Poland: Katowice, Szczecin, Rzeszow) between October 2015 and October 2017. Weight (kg) and height (m) were measured, Tanner stage was obtained and a fasting serum blood sample was taken. Serum levels of total leptin (LEP, ng/mL), biologically active leptin (bioLEP, ng/mL) and soluble leptin receptor (sLEPR, ng/mL) were measured. The body mass index (BMI [kg/m2]), BMI z-score (World Health Organization [WHO]), quotient of bioLEP/LEP and leptin-standard deviation score (LEP-SDS) (Tanner stage, BMI and sex-adjusted) were calculated. Results We did not find any child with leptin deficiency or biologically inactive leptin in our cohort. The serum LEP and bioLEP levels were strongly correlated with age (r = 0.50, p < 0.05) and BMI (r = 0.70; p < 0.0001). Girls had higher LEP and bioLEP levels (49.7 ± 35.9 vs. 37.1 ± 25.5 ng/mL, p > 0.05) as well as lower LEP-SDS than boys (-1.77 ± 2.61 vs. -1.40 ± 2.60, p > 0.05). sLEPR levels were negatively correlated with BMI values (r = -0.44; p < 0.05), LEP (r = -0.39; p < 0.05) and bioLEP levels (r = -0.37; p < 0.05). Interestingly, there was a strong inverse relationship between LEP-SDS and BMI (r = -0.72, p < 0.001). Conclusions In this cohort with SEOO, we identified no new cases of children with leptin deficiency or bioinactive leptin. A strong negative correlation between the LEP-SDS and BMI values could be interpreted as relative leptin deficiency in children with SEOO. In case this hypothesis can be confirmed, these children would benefit from a substitution therapy with methionyl human leptin (metreleptin™).

Practical approach to childhood craniopharyngioma: a role of an endocrinologist and a general paediatrician.

OBJECTIVES: The objectives of this study are to evaluate co-morbidities in patients with craniopharyngioma and to elaborate an interdisciplinary protocol of the follow-up. PATIENTS AND METHODS: The group comprised 15 children (median age at the diagnosis, 10.1; mean follow-up period, 4 years). All patients had surgical resection of the tumour: gross total in seven, subtotal or partial removal in eight cases. Surgery was followed by radiotherapy in ten cases for tumour residue or progression. Sexual development and auxology were evaluated at diagnosis and during follow-up. Hormones were determined by chemiluminescent immunometric assays. Antidiuretic hormone dysfunction was diagnosed on the grounds of clinical symptoms, water-electrolyte balance, urine specific gravity, and serum osmolality. Metabolic control was monitored by levels of glucose, insulin, lipids, and transaminases; insulin resistance was expressed by homeostatic model assessment (HOMA) index. RESULTS: At diagnosis, median height standard deviation score (hSDS) was -1.6 (five children being short-statured). Median change hSDS for the whole follow-up was 1.2 (four children decelerating growth). Diabetes insipidus was diagnosed in eight (within 0-1.8 years of the follow-up), hypocorticolism in eight, and hypothyroidism in 12 subjects (within 0-3.75 years for both endocrinopathies). Four patients required sex hormone replacement therapy. At diagnosis, five children were overweight; during follow-up, only four children sustained normal body mass index. Hypertransaminasaemia was found in three, dyslipidaemia in 11, and hyperinsulinaemia in seven patients (with elevated HOMA in four cases). CONCLUSIONS: On the grounds of these observations, the management of craniopharyngioma in our institution includes repeated hormonal and metabolic assays in chosen time intervals. Early detection of co-morbidities and their management involves interdisciplinary team.

Lipid levels and selected biomarkers of vascular changes in children with idiopathic headaches - a preliminary report.

INTRODUCTION: Elevated lipid concentrations were observed in adults with headaches. However, studies in children are scarce. Recent data suggest new potential risk factors for atherosclerosis, which may be associated with headaches. The aim of the study was to analyse the blood levels of lipids and new markers of atherosclerosis in children with idiopathic headaches. MATERIAL AND METHODS: The study population comprised 65 children (39 with idiopathic headaches and 26 healthy children). Total cholesterol (TC), high-density lipoprotein (HDL), low-density lipoprotein (LDL) cholesterol and triacylglycerol (TG) levels were measured in every patient. Brain-derived neurotrophic factor (BDNF), soluble CD40 ligand (sCD40L), endothelial plasminogen activator inhibitor (serpin E1/PAI I) and vascular endothelial growth factor (VEGF) blood level measurements were performed in 34 children. RESULTS: Children with headaches had higher BMI z-scores (0.2 vs. -1.14; p = 0.006). TC level was lower in patients with headaches (121.04 mg/dl vs. 146.87 mg/dl, p = 0.019). No differences in concentrations of TG, HDL or LDL were found. BDNF was significantly higher in the studied group (171.57 pg/ml vs. 64.04 pg/ml, p = 0.012). The VEGF was higher in boys with headaches than in girls (368.27 pg/ml vs. 142.86 pg/ml, p = 0.011). There were no differences in levels of VEGF, sCD40L or PAI-1 between groups. CONCLUSIONS: Children with headaches have lower total cholesterol and higher BDNF levels than controls. No significant difference in levels of triacylglycerols, HDL cholesterol, LDL cholesterol, VEGF, sCD40L or PAI-1 was found between children with headaches and controls.

Resistance to thyroid hormone with a mutation of the thyroid ß receptor gene in an eight-month-old infant - a case report.

INTRODUCTION: Resistance to thyroid hormone (RTHß) is a rare syndrome of impaired tissue responsiveness to thyroid hormones (THs). The disorder has an autosomal dominant or recessive pattern of inheritance. Most of the reported mutations have been detected in the thyroid hormone receptorß gene (THRß). CASE REPORT: Authors present an eight-month-old infant with poor linear growth, decreased body weight, tachycardia, positive family history, and neonatal features suggestive of RTHß. Both our patient and his mother had elevated free thyroxine, free triiodothyronine, and non-suppressed thyrotropin (TSH) concentration. The fluorescent sequencing analysis showed a heterozygous mutation c.728G>A in TRß gene. This pathogenic variant is known to be associated with THR. CONCLUSIONS: The clinical presentation of RTHb is variable, ranging from isolated biochemical abnormalities to symptoms of thyrotoxicosis or hypothyroidism. The syndrome should be suspected in patients with increased serum TH level, accompanied by a normal or elevated TSH concentration. The affected patients require individualised management.

Trichorhinophalangeal syndrome as a diagnostic and therapeutic challenge for paediatric endocrinologists.

Trichorhinophalangeal syndrome (TRPS) is rare genetic disorder with autosomal dominant inheritance. The TRPS1 gene is located on the long arm of the eighth chromosome (8q24.12). The phenotype is variable and presents a wide clinical spectrum. Most cases are characterised by thin, sparse scalp hair, distinctive facial dysmorphism, and various skeletal abnormalities, especially of the hands and feet. Characteristic facial features may include a "pear-shaped" nose, micrognathia, dental anomalies, prominent ears, elongated philtrum, and thin upper vermillion border. In most cases, affected individuals exhibit skeletal abnormalities including brachydactyly and clinodac-tyly, short metacarpals phalanges, short feet and metatarsals, and pectus carinatum and hip joint malformations. Additionally, patients may exhibit short stature. This report presents four cases of TRPS (three sporadic and one familial). Clinical presentation included typical facial features and vari-ous skeletal abnormalities. Some TRPS symptoms may mimic growth hormone deficiency and other endocrine disturbances. The aim of this article is to deliver TRPS symptomatology. The treatment of TRPS is symptomatic and supportive and requires the coordination of several specialists, including paediatricians, endocrinologists, orthopaedic surgeons, dermatologists, and medical rehabilitation and den-tal specialists. In some cases, recombinant growth hormone therapy may be necessary. Genetic counselling may be of benefit for affect-ed individuals and their families.

Autoimmunity Predisposition in Girls With Turner Syndrome.

Background: Turner Syndrome is associated with an increased risk of autoimmune diseases, such as autoimmune thyroiditis, coeliac disease, type 1 diabetes mellitus, inflammatory bowel disease, alopecia areata, or vitiligo. The presence of isochromosome iXq and exposure to estradiol may contribute to the development of the autoimmune process. The aim of this study was to determine the prevalence of autoimmune diseases in a group of TS patients and to assess the impact of karyotype and puberty on the development of autoimmune diseases. Patients and Methods: The analysis encompassed clinical and biochemical data of 134 patients treated between 2001 and 2018. All the patients were examined for autoimmune disease symptoms and tested for the presence of antithyroperoxidase (anti-TPO) and antithyreoglobulin (anti-TG) antibodies. In 73 of the patients, anti-transglutaminase (anti-tTG) antibodies were measured. Thyroid function was assessed by measuring TSH and fT4 levels. Results: The mean follow-up was 5.7 ± 3 years. An autoimmune disease was diagnosed in 46 (34.3%) patients: 39 (29.1%) had only one disorder, whilst 7 (5.2%) presented two disorders. The most common disorder, observed in 40 (29.9%) patients, was thyroid autoimmunity. Hashimoto disease was diagnosed in 20 (14.9%) patients. Of the 73 patients tested for coeliac disease, 4 (5.5%) had anti-tTG and 2 (2.7%) presented overt coeliac disease. Vitiligo was diagnosed in 3 (2.2%) patients, type 1 diabetes mellitus or psoriasis were diagnosed in 2 (1.5%) patients, whilst alopecia areata or lichen sclerosus were diagnosed in 1 (0.7%) patient. The impact of karyotype or estradiol exposure on developing autoimmune diseases were not statistically significant. Conclusions: Our study showed a higher incidence of autoimmune diseases in TS, which is in line with the literature; however, the impact of iXq, or spontaneous/inducted puberty was not confirmed.