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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.

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.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.The concentrations of TCh and LDL-C before treatment were significantly higher in G2 than in G1 (p0.001). 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 (p0.05). 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).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.Istnieje istotna korelacja pomiędzy zwiększonym stężeniem cholesterolu LDL (LDL-C) w dzieciństwie a chorobami naczyniowymi w przyszłości. Celem pracy jest ocena skuteczności i bezpieczeństwa wybranych terapii u dzieci z zaburzeniami gospodarki lipidowej.Do grupy badanej włączono 37 dzieci z podwyższonym stężeniem LDL-C (13 chłopców, 24 dziewcząt) w wieku 8.99 ±4.03 roku. Po 6 miesiącach leczenia behawioralnego, grupa została podzielona na G1 (n = 24), która była leczona niefarmakologicznie i suplementami diety i G2 (n =13), leczona niefarmakologicznie i statynami (5–10 mg/dziennie). Analizie poddano: BMI Z-score, cholesterol całkowity (TCh), LDL-C, cholesterol HDL (HDL-C) i trójglicerydy (TG), których stężenia były oceniane kilkukrotnie w trakcie obserwacji.Stężenia TCh i LDL-C przed leczeniem było istotnie wyższe w G2 niż w G1 (p0,001). Dzięki leczeniu różnice te nie były dłużej istotne na ostatniej wizycie. W G1 i G2 stężenia TCh i LDL-C spadły istotnie, istotnie większa redukcja stężenia TCh i LDL-C po leczeniu była obserwowana w G2 niż w G1. Co więcej, w G1 obserwowaliśmy również istotną redukcję stężenia TG po leczeniu (p0,05). BMI Z-score nie zmienił się istotnie w badanych grupach w trakcie leczenia. Ponadto w G1 stwierdzono istotną korelację pomiędzy BMI Z-score i HDL-C przed terapią i po leczeniu (r = –0,57, p = 0,009; r = –0,52, p = 0,02, odpowiednio). Taka korelacja była również obecna w G2 po leczeniu (r = –0,67, p = 0,05).U dzieci z dyslipidemią, niezależnie od jej przyczyny, leczenie statynami jest najbardziej efektywne w redukcji LDL-C. Aczkolwiek, leczenie suplementami diety wpływającymi na profil lipidowy wydaje się również skuteczne i bezpieczne.

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) 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 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™).

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).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).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.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.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.Rozpoznanie niedoboru hormonu wzrostu (GH) u dzieci niskorosłych, których wzrost mieści się poniżej 2 SD dla normy populacyjnej, oparte jest na wartości stężenia GH w testach stymulacyjnych. Wartość krytyczna GH w testach jest arbitralnie przyjęta i różni się między ośrodkami badawczymi. Wskazania do leczenia rekombinowanym hormonem wzrostu (rGH) u dzieci ze stężeniem GH w teście pomiędzy 5 a 10 ng/ml (pGHD) są nadal dyskusyjne.Porównanie efektów leczenia rGH dzieci z pGHD w odniesieniu do grupy kontrolnej złożonej z dzieci z idiopatyczną niskorosłością (ISS), nieleczonych rGH.Grupę badaną stanowiło 54 dzieci w średnim wieku 13,5 roku (SD 2,36) ze zdiagnozowanym częściowym niedoborem hormonu wzrostu leczonych rGH. Grupę kontrolną stanowiło 32 dzieci z ISS nieleczonych rGH dobranych pod względem płci i wieku.Średni wzrost ostateczny dzieci z obu grup mieścił się w granicach normy populacyjnej. Średni przyrost wzrostu różnił się istotnie pomiędzy grupami: 1,3 SD (p 0,001) dla grupy badanej w porównaniu z 1,02 SD (p 0,001) dla grupy kontrolnej. Różnica ta była istotna statystycznie (p 0,05). Po wyłączeniu grupy dzieci z rodzinnym niskim wzrostem (FSS) przyrost wzrostu był odpowiednio na poziomie 1,41 SD ±0,67 dla grupy badanej i 1,22 SD ±0,77 dla grupy kontrolnej. Różnica ta nie była istotna statystycznie.Wyniki badania nie wskazują na korzystny efekt leczenia rGH dzieci z pGH w porównaniu z dziećmi z ISS. Wskazane jest więc ustalenie innych kryteriów niż wyrzut GH w testach stymulacyjnych kwalifikowania do terapii hormonalnej dzieci z częściowym niedoborem GH.

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.

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.

Introduction: Resistance to thyroid hormone (RTHβ) 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 receptor β gene ( THRβ ). 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 RTHβ. 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 TRβ 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 (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.Zespół włosowo-nosowo-paliczkowy jest rzadką chorobą uwarunkowaną genetycznie, w większości przypadków o autosomalnie do-minującym sposobie dziedziczenia. Gen TRPS1 jest zlokalizowany na długim ramieniu chromosomu 8 – 8q24(8q24.12). Fenotyp jest zróżnicowany i prezentuje szerokie spektrum objawów klinicznych. Do charakterystycznych cech fenotypowych zalicza się rzadkie włosy, dysmorfię twarzoczaszki oraz zaburzenia kostno-szkieletowe, zwłaszcza w obrębie dłoni i stóp. Do typowych cech dysmorficz-nych twarzy należą: "gruszkowaty nos", mikrognacja, anomalie zębowe, wydatne uszy, wydłużona rynienka nosowa i wąska czerwień wargowa. W większości przypadków występują anomalie szkieletowe, takie jak klino- i brachydaktylia, skrócenie paliczków śródręcza i śródstopia, kurza klatka piersiowa oraz malformacje stawu biodrowego. Część pacjentów ma niedobór wzrostu. Artykuł przygotowano na podstawie serii czterech przypadków klinicznych (trzy sporadyczne i jeden rodzinny). Wszystkie dzieci pre-zentowały typowe dla TRPS cechy dysmorfii twarzoczaszki oraz różne anomalie układu kostno-szkieletowego. Przyczyną skierowania na Oddział Endokrynologii Dziecięcej było podejrzenie różnych endokrynopatii, w tym niedobór hormonu wzrostu, zaburzeń gospo-darki wapniowo-fosforanowej czy zespołu Turnera. Celem pracy jest przybliżenie symptomatologii TRPS. Leczenie jest objawowe i wymaga skoordynowanej współpracy wielu specjalistów, w tym lekarza pediatry, endokrynologa, ortopedy, dermatologa, specjalisty rehabilitacji medycznej czy chirurga szczękowego. Część pacjentów z niskorosłością i niedoborem GH może wymagać terapii substytu-cyjnej rGH. Doradztwo genetyczne może przynieść korzyści dotkniętym TRPS osobom i ich rodzinom.

In the light of recent studies, the usefulness of the metabolic syndrome diagnosis in obese pediatric patients seems to be controversial. It leads to the pressing questions, if the metabolic syndrome diagnosis is reflecting risk of the cardiovascular complications in obese chil-dren.To evaluate the incidence of metabolic syndrome in obese children, asses the role of insulin resistance in the metabolic complications and investigate if the diagnosis of MS has a clinical value in that group of patients.After the retrospective analysis of 588 records of obese children treated in metabolic outpatient clinic, 289 children (145 boys) in the mean age of 11 years, was qualified to the study. Diagnosis of metabolic syndrome was based on IDF 2009 criteria and HOMA-IR was used in the assessment of insulin resistance.Metabolic syndrome was diagnosed in 69 children (24%) including 42 girls (61%, p0.05). Mean age was higher (12.4 vs. 10.9, p0.05) in patients with metabolic syndrome. Initial BMI Z-score was similar in the both groups (2.93 SD vs. 2.92 SD). However, further follow-up showed significantly (p0.001) less effective BMI z-score reduction in patients with metabolic syndrome. Insulin resistance was observed significantly more often in children with metabolic syndrome (77% vs. 35%, p0.0001). Moreover, ami-notransferases were significantly higher in boys with metabolic syndrome (AST = 35 vs. 28 U/l, ALT = 38 vs. 23 U/l, p0.0001).The diagnosis of metabolic syndrome in obese children seems to have a predictive value for the clinical practice. Affected children are older and their criteria are present more often in girls. Insulin resistance seems to be an important factor associated with metabolic syn-drome in obese children. The outcomes of behavioral therapy are less effective in children with metabolic syndrome. Affected boys are at higher risk of non-alcoholic fatty liver disease (NAFLD) in the future.Przydatność kliniczna rozpoznawania zespołu metabolicznego (ZM) u otyłych dzieci w świetle ostatnich badań jest kontrowersyjna. Pojawia się pytanie, czy rozpoznanie ZM odzwierciedla ryzyko występowania powikłań otyłości u dzieci.Ocena występowania ZM u otyłych dzieci, ewaluacja roli insulinooporności w powikłaniach metabolicznych oraz zbadanie, czy diagno-zowanie ZM jest użyteczne dla codziennej praktyki klinicznej.Analizie retrospektywnej poddano 588 otyłych dzieci leczonych w poradni metabolicznej, 289 dzieci (145 chłopców) w wieku średnio 11 lat zakwalifikowano do badania. Zespół metaboliczny rozpoznawano na podstawie kryteriów IDF 2009. Do określenia insulinoo-porności użyto wskaźnika HOMA-IR.Zespół metaboliczny rozpoznano u 69 dzieci (24%), w tym u 42 dziewczynek (61%, p0,05). Średni wiek dzieci był wyższy (12,4 vs 10,9; p0,05) u pacjentów z zespołem metabolicznym. Początkowa wartość BMI Z-score nie różniła się znamiennie w obu grupach (2,93 SD vs 2,92 SD). Dalsza obserwacja wykazała znamiennie mniejszą (p0,001) redukcję BMI Z-score u pacjentów z ZM. Insuli-nooporność obserwowano znamiennie częściej u dzieci z ZM (77% vs 35%; p0,0001). Natomiast stężenia aminotransferaz były zna-miennie większe u chłopców z ZM (AST = 35 vs 28 U/l; ALT = 38 vs 23 U/l, p0,0001).Diagnozowanie zespołu metabolicznego u otyłych dzieci wydaje się mieć istotne znaczenie w praktyce klinicznej. Zespół ten występuje częściej u dziewczynek i u dzieci starszych. Insulinooporność jest ważnym czynnikiem skojarzonym z ZM u otyłych dzieci. Terapia zachowawcza otyłości jest mniej efektywna u pacjentów z ZM. Chłopcy dotknięci tym zespołem wydają się bardziej narażeni na wystą-pienie niealkoholowej stłuszczeniowej choroby wątroby (NAFLD) w przyszłości.

The profile of urinary steroids as measured by gas chromatography-mass spectrometry defines a subject's "steroidal fingerprint."Here, we clustered steroidal fingerprints to characterize patients with nonsyndromic childhood obesity by "steroid metabolomic signatures."Nonsyndromic obesity is a symptom of different diseases and conditions, some of them will have their own signature.A total of 31 steroid metabolites were quantified by gas chromatography-mass spectrometry, and their excretion rates were z-transformed. Using MetaboAnalyst 3.0, we divided the subjects into 5 distinctive groups by k-means clustering. Steroidal fingerprints and clinical/biochemical data of patients in each cluster were analyzed.A total of 87 obese children (44 females), aged 8.5-17.9 years, were clinically characterized, and their 24-hour urine was collected.Cluster 1 (n = 39, 21 females) had normal steroid profile. Cluster 2 (n = 20, 11 females) showed mild, nonspecific elevation of C19 and C21 steroids, females' resistance to polycystic ovary morphology, and hirsutism. Cluster 3 (n = 7 female), with relative 21-hydroxylase insufficiency, was characterized by partial or full polycystic ovary syndrome. Cluster 4 (n = 4 males), showed markedly elevated C21 steroids and imbalance in the 11β-hydroxysteroid dehydrogenase system, higher insulin, increased frequency of glucose/insulin index more than 0.3, γ-glutamyl transpeptidase activity, systolic blood pressure, and tendency to liver steatosis. Cluster 5 (n = 17, 5 females) had elevated dehydroepiandrosterone and 17-OH-pregnenolone metabolites, suggesting 3β-hydroxysteroid dehydrogenase insufficiency but no clinically unique phenotype. Z-score body mass index values were not significantly different between the clusters.We defined a novel concept of disease-specific steroid metabolomic signature based on urinary steroidal gas chromatography-mass spectrometry. Clustering by software designed for metabolic data analysis reclassified childhood obesity into 5 groups with distinctive signatures; groups require further definition and may require cluster-specific therapeutic strategies.

Background Turner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis. Case A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH. Summary and Conclusion Early diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications.

Polycystic ovary syndrome (PCOS) diagnosis and therapy still arouse a lot of controversy. Each year brings new information, so, having collected the experience of three scientific societies, we present contemporary recommendations concerning PCOS diagnostics and treat-ment. In adult female diagnosis, we still use the Rotterdam criteria, which is two out of three of the follwing characteristics: a) ovulation abnormality, b) clinical or biochemical hyperandrogenism, and c) polycystic ovaries. In the case of teenagers, diagnostic criteria are as follows: menstruation disturbances two years after menarche and clinical or biochemical hyperandrogenism. The presence of polycysti-cally abnormal ovaries is not necessary. The consensus paper presents the threats resulting from imperfect diagnostic methods applied in PCOS (hyperandrogenism diagnostics, ultrasound examination of ovaries). Suggested therapy includes personalised schemes according to the dominant PCOS phenotype, i.e. metabolic, hyperandrogenic, or reproductive ones.

Background. Nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in obese children. Early diagnosis and treatment are essential for curing or slowing down the disease progression. The aim of the study was to assess the prevalence of NAFLD in this population and to identify anthropometrical and metabolic risk factors for NAFLD prediction and its development. Material and Methods. The study included 108 obese children. Anthropometric measurements, NAFLD diagnosis (based on ALT level and/or liver ultrasound), and metabolic syndrome (MS) components were assessed in all patients. Patients were divided into groups with and without NAFLD. Results. NAFLD was diagnosed in 49 (45%) patients with similar prevalence in boys (27; 55.10%) and girls [22 (44.9%), p=0.089]. NAFLD patients had significantly greater waist circumference, WHR, and WHtR and significantly higher total cholesterol, triglyceride, and fasting insulin concentrations as well as higher glucose and insulin concentrations in 120 minutes of OGTT and higher HOMA-IR levels compared to group of patients without NAFLD. In NAFLD patients, MS was significantly more likely to be diagnosed than in group without NAFLD (40.82% versus 22.81%, p=0.04), but among the MS components only hypertriglyceridemia was significantly more frequently diagnosed in the group with NAFLD (p=0.002). Among analysed parameters the best independent risk factor for NAFLD was fasting insulin concentration with the cut-off point = 18,9 uIU/ml (AUC = 0.829). Conclusions. NAFLD is a very common disease in obese children. NAFLD predictive risk factors include increased waist circumference, elevated WHR and WHtR, and elevated total cholesterol, triglycerides, and fasting insulin as well as elevated glucose and insulin concentration in the OGTT and HOMA-IR index. NAFLD increases the risk of potential cardiovascular complications expressed by diagnosis of metabolic syndrome. The best independent predictive risk factor for diagnosing NAFLD in obese children is fasting insulin > 18.9 uIU/ml.

The aim of the study was to compare oxidative/antioxidative status in obese and sport trained children and to correlate obtained redox markers with anthropometrical measurements, body composition parameters, and adipokines levels. 78 (44 males) obese (SG) and 80 (40 males) normal weight sport trained (CG) children matched for age and Tanner stage were recruited for the study. Body composition parameters and basal metabolic rate (BMR) were assessed by bioelectrical impedance analysis (BIA). Oxidative/antioxidative status was evaluated in plasma by total oxidative status (PerOX), oxidized-LDL cholesterol (oxLDL), total antioxidative capacity (ImAnOx), and glutathione peroxidase activity (GPx). Leptin and adiponectin levels and adiponectin/leptin ratio (A/L) were also investigated. OxLDL was higher in SG versus CG (P P Z-score, WHR, WHtR, body composition parameters, leptin (in boys only), and A/L ratio (in boys only) in SG and in a whole studied population. PerOX significantly correlated with BMR in the CG. Antioxidative/oxidative status in obese children is significantly impaired and related adipose tissue excess and its hormonal activity. Oxidative status assessed by PerOx is also high in sport trained children but antioxidative defense is significantly more efficient with no overproduction of oxidized LDL.

Significant advances have been made in thyroid can-cer research in recent years, therefore relevant clinical guidelines need to be updated. The current Polish guidelines "Diagnostics and Treatment of Thyroid Carcinoma" have been formulated at the "Thyroid Cancer and Other Malignancies of Endocrine Glands" conference held in Wisła in November 2015 [1].

Aims: To investigate whether karyotype, mid-childhood (6–10 years) follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels, and ultrasound ovary visualization results can be used as indicators of spontaneous puberty in Turner syndrome (TS). Methods: The analysis was based on clinical and biochemical data from 110 TS girls aged >13 years at the end of the study (1,140 visits between 1996 and 2015). The study population was divided according to karyotype: 45,X and non-45,X. Results: The mean age ± standard deviation at diagnosis was 10.7 ± 4.0 years, and the follow-up duration was 5.9 ± 3.3 years. Spontaneous puberty was confirmed in 48% and menarche in 20% of the subjects, less frequently in 45,X girls. The mean age at Tanner stage B2 was 13.7 ± 2.4 years and that at menarche 14.2 ± 1.7 years, regardless of the karyotype. The median FSH level at 6–10 years was 8.16 IU/L, which was significantly lower than 10 years. The median LH level at 6–10 years was 0.35 IU/L, which was lower than >10 years. The chance of spontaneous menarche was decreased in girls with FSH ≥6.7 IU/L between 6 and 10 years. Conclusions: Although spontaneous puberty and menarche occur more frequently in non-45,X girls, the karyotype cannot be used to predict them. However, the chance of spontaneous menarche can be predicted based on gonadotropin cut-off values. There was no correlation between ultrasound ovary visualization results and spontaneous puberty.

Objective. To examine the trend in prevalence of overweight and obesity in schoolchildren from south-eastern Poland over a 10-year period. Materials and Method. A cross-sectional study was conducted in randomly selected primary schools. In total, 4,248 children (2,182 boys and 2,066 girls), mean age 10.5±2.4 years, were examined in 1998, and 2,412 children (1,184 boys and 1,228 girls), mean age 10.5±2.3 years in 2008. In each school the entire population was studied. Results. In 2008, the prevalence of overweight in girls was 13.3% and obesity 7.7%, compared to 12.0% and 10.1% in 1998. The decrease in obesity prevalence was statistically significant. In boys, the prevalence of overweight in 2008 was 14.2% and obesity 6.4%, compared to 10.5% and 6.8% in 1998. The increase in overweight prevalence among boys was statistically significant. Conclusions. A trend toward stabilization of the prevalence of overweight and obesity was noted in school children from south-eastern Poland between 1998–2008. The declining prevalence of obesity in girls and increased prevalence of overweight in boys demonstrates that in this age group of children the secular trend is gender dependent.

Congenital cardiovascular structural abnormalities, hypertension, low birth weight, increased prevalence of obesity, frequent glucose intolerance and dyslipidemia are risk factors of premature mortality for cardiovascular events in Turner syndrome (TS). The life expectancy in TS is reduced by at least 10 years and the risk of premature death is increased 3-fold compared to general female population. Hormonal therapy in TS, both estrogens in different algorithms and growth hormone in supraphysiological dose, may additionally modify these factors. In this review we summarize cardiometabolic markers potentially present in girls and women with TS.Obecność wrodzonej wady układu krążenia i nadciśnienia tętniczego, mała masa urodzeniowa, skłonność do nadwagi i otyłości, częstsze zaburzenia gospodarki węglowodanowej i lipidowej są czynnikami zwiększającymi ryzyko wczesnych zgonów sercowonaczyniowych w grupie chorych z zespołem Turnera (ZT). Ryzyko to jest trzykrotnie wyższe niż w populacji ogólnej, a długość życia kobiet z ZT jest przeciętnie mniejsza o 10 lat. Leczenie hormonalne z zastosowaniem różnych algorytmów estrogenoterapii i z użyciem suprafizjologicznych dawek rekombinowanego hormonu wzrostu może dodatkowo modyfikować te czynniki. W opracowaniu przedstawiono aktualny przegląd literatury odnoszący się do analizy markerów ryzyka sercowo-metabolicznego występujących u dziewcząt i kobiet z ZT.

1Katedra i Klinika Pediatrii, Diabetologii i Endokrynologii, Gdanski Uniwersytet Medyczny, Gdansk 2Klinika Pediatrii, Endokrynologii, Diabetologii, Chorob Metabolicznych i Kardiologii Wieku Rozwojowego, Pomorski Uniwersytet Medyczny, Szczecin 3Klinika Pediatrii, Endokrynologii i Diabetologii Dzieciecej, Śląski Uniwersytet Medyczny, Katowice 4Klinika Patologii Noworodka, Instytut Pediatrii, Centrum Zdrowia Dziecka, Warszawa 5Instytut Żywności i Żywienia, Warszawa 6I Katedra i Klinika Kardiologii, Warszawski Uniwersytet Medyczny, Warszawa 7Wydzial Medyczny, Uniwersytet Rzeszowski, Rzeszow 8Klinika Pediatrii, Hematologii, Onkologii i Diabetologii, Łodzki Uniwersytet Medyczny, Łodź 9I Katedra i Klinika Kardiologii, Gdanski Uniwersytet Medyczny, Gdansk 10Katedra i Klinika Transplantacji Szpiku, Onkologii i Hematologii Dzieciecej, Wroclawski Uniwersytet Medyczny, Wroclaw 11Klinika Gastroenterologii, Hepatologii i Żywienia Dzieci, Centrum Zdrowia Dziecka, Warszawa 12Zaklad Genetyki, Instytut Psychiatrii i Neurologii, Warszawa 13Zaklad Prewencji i Dydaktyki, Katedra Nadciśnienia Tetniczego i Diabetologii, Gdanski Uniwersytet Medyczny, Gdansk 14Katedra i Zaklad Biologii i Genetyki, Gdanski Uniwersytet Medyczny, Gdansk 15Katedra Nefrologii i Nadciśnienia Tetniczego, Łodzki Uniwersytet Medyczny, Łodź

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.

OBJECTIVE: To determine and compare attitudes, skills, and practices in childhood obesity management in 4 European countries with different obesity prevalence, health care systems, and economic situations. METHODS: A cross-sectional survey was distributed to primary health care providers from France, Italy, Poland, and Ukraine. The questionnaire was returned by 1119 participants with a response rate of 32.4%. RESULTS: The study revealed that most of the primary health care providers were convinced of their critical role in obesity management but did not feel sufficiently competent to perform effectively. The adherence to recommended practices such as routine weight and height measurements, BMI calculation, and plotting growth parameters on recommended growth charts was poor. Most primary health care providers recognized the need for continuing professional education in obesity management, stressing the importance of appropriate dietary counseling. CONCLUSIONS: The study underlines insufficient implementation of national guidelines for management of obesity regardless of the country and its health system. It also makes clear that the critical problem is not elaboration of guidelines but rather creating support systems for implementation of the medical standards among the primary care practitioners.

Background: The risk of immunoglobulin resistance is still likely to occur in Kawasaki disease (KD) despite adequate treatment. The Kobayashi score (KS) is used to predict unresponsiveness to treatment although the usefulness of the score in populations other than Asian seems to be debatable. Aim: The analysis of clinical and laboratory parameters predisposing to immunoglobulin resistance and coronary complica­tions in children hospitalised due to KD. Methods: The data of children hospitalised due to KD between 2003 and 2016 underwent analysis. Clinical and laboratory parameters were analysed, including all parameters present in KS in relation to the risk of intravenous immunoglobulin (IVIG) resistance and the occurrence of coronary complications in the form of aneurysms and dilatations. Results: Seventy-three children (51 boys; aged 1.5–135 months) with KD were hospitalised. In eight (11%) patients IVIG re­sistance was observed. We reported aneurysms or coronary dilatations in 13 (17.8%) children. The criterion for increased risk of IVIG resistance based on KS (≥ 4 points) was fulfilled by 21 (29%) children. Resistance to IVIG and coronary complications were observed in four (19.1%) and two (9.5%) children with the score ≥ 4 points, respectively, and four (7.7%) and 11 (21.6%) from the group < 4 points in KS, respectively. The prevalence of IVIG resistance and coronary artery complications was not different between the group with ≥ 4 and the group with < 4 points (p = 0.22, p = 0.32, respectively). A higher risk of IVIG resistance was confirmed in children with a longer duration of fever (13.0 days with IVIG resistance vs. 9.2 days with a good response to IVIG, p = 0.04). For the prediction of the occurrence of coronary artery aneurysms the following were of great importance: the day of diagnosis (which was usually the day of the beginning of treatment), the number of symptoms, and the maximal platelet count (p = 0.001; p = 0.019 and p = 0.026, respectively). Conclusions: In our study population we did not demonstrate the usefulness of KS to predict IVIG resistance or the risk of the occurrence of coronary artery aneurysms. However, prolonged fever, late diagnosis, poorly symptomatic course of the disease, and a high platelet count at the time of the follow-up remain independent risk factors.

Wśród licznych zaburzeń składających się na obraz zespołu Turnera występują również nieprawidłowości stomatologiczne. Szczególną uwagę należy zwrócić na nieprawidłową budowę zębów i zaburzenia ortodontyczne. Wśród nich występują wady zgryzu, takie jak tyłozgryz czy zgryz krzyżowy, a także zwężenie górnego łuku zębowego i wysokie wysklepienie podniebienia. Istotnym elementem są również zaburzenia kostne w obrębie twarzoczaszki, stwierdzane u niemal wszystkich pacjentek. Okazuje się, że terapia rekombinowanym hormonem wzrostu (rGH) mogłaby mieć wpływ na zapobieganie występowaniu ortodontycznych wad szkieletowych. Konieczne są jednak dalsze badania w tym zakresie. Występujące wady mają bezpośredni wpływ na wygląd twarzy pacjentek i ich samoocenę. Niewątpliwie profesjonalna opieka stomatologiczna powinna być włączona w całość wielodyscyplinarnej terapii, którą objęte są pacjentki z ZT.

For Turner syndrome (TS) patients, smooth transition from pediatric to adult health care is a critical point. The study objective was to evaluate the medical follow-up of young women with TS in one clinical center 3 years after the latest guidelines had been introduced by the TS Study Group. A questionnaire study was performed in 59 TS adults selected from a database of 117 patients. Twenty-two of them, aged 23.0 ± 2.8 years, consented to participate. Nineteen responders (86.4%) were followed up by general practitioners who were not aware of the TS diagnosis in 14 (63.6%) cases. Eight (36.4%) were seen regularly by the relevant specialists. Adequate medical assessment varied from 5% (celiac serology) to 74% (gynecology assessment) and 82% (ear-nose-throat) of participants. None of the patients had undergone all of the recommended investigations according to recommendation. Height deficiency, body mass index, age at TS diagnosis and level of education did not correlate with the number of assessments performed (p = 0.687, p = 0.810, p = 0.641, and p = 0.568, respectively). Three years after the introduction of the current guidelines, medical follow-up in the transition phase is still inadequate. Improvement in transitional health care is warranted through better patient education, referring to physicians caring for adults with TS and better cooperation with general practitioners with wider popularization of the TS recommendations among them.

Objective To assess the risk of cardiovascular disease on the basis of biochemical, echocardiographic, and 24-hour blood pressure (BP) monitoring parameters in adolescent girls with polycystic ovary syndrome (PCOS). Design Cross-sectional study. Setting Academic and research institution. Patient(s) Thirty-four obese and nonobese girls with PCOS were evaluated and compared with body mass index–matched girls with regular menses. Intervention(s) None. Main Outcome Measure(s) Androgens, gonadotropins, lipids, and fasting and oral glucose tolerance test–stimulated glucose and insulin concentrations were measured. Echocardiographic assessment and 24-hour BP monitoring were done. Result(s) Compared with obese controls, obese girls with PCOS had significantly higher 24-hour mean BP, day mean BP, day diastolic BP, and diastolic BP nighttime dip (75.5 ± 4.5 mm Hg vs. 71.7 ± 3.7 mm Hg; 78.2 ± 5.0 mm Hg vs. 73.6 ± 4.0 mm Hg; 67.6 ± 4.9 mm Hg vs. 63.7 ± 3.7 mm Hg; and 20.2% ± 5.2% vs. 15.0% ± 6.6%, respectively). Obese girls with PCOS had significantly higher night heart rate than obese controls (60.4 ± 5.6 beats per minute vs. 61.7 ± 4.8 beats per minute). Left ventricle end-diastolic (4.6 ± 0.3 cm vs. 4.2 ± 0.2 cm) and end-systolic diameter (3.0 ± 0.3 cm vs. 2.7 ± 0.2 cm) were also significantly higher in nonobese girls with PCOS than in nonobese controls; however, all values were still within the accepted range of normal limits. Conclusion(s) Higher night heart rate in obese girls with PCOS and higher day BP but preserved diastolic nocturnal dip in nonobese girls with PCOS may be regarded as early cardiovascular disease risk factors.

Medulloblastoma (MB) is one of the most frequent and sensitive to radiation aggressive brain tumor in children. Abnormalities of the thyroid function are common complications of head and neck irradiation for childhood cancer. The aim of this study was to assess thyroid function in children treated for medulloblastoma according to the treatment protocol phase. Twenty-three children with MB were enrolled to this study. All patients underwent chemotherapy and radiotherapy to the whole craniospinal axis and boost with the conformal therapy restricted to the tumor bed to a total dose of 54 Gy. Thyroid function was evaluated based on thyroid-stimulating hormone (TSH), free thyroxine (fT4) levels controlled before MB treatment, directly after irradiation and at the end of the treatment protocol. Ultrasonography has been used to detect parenchymal abnormalities. All patients presented normal thyroid hormone range before chemotherapy. Hypothyroidism was found in 12 patients in the course of treatment, in 2 patients hormone deficits diagnosed directly after irradiation, in 10 patients such condition was observed at the end of the whole therapy. All of these patients needed thyroid hormone substitution. None of them presented clinical symptoms of hypothyroidism. Ultrasound-detected abnormalities have been found in 20 patients. It is crucial to monitor the functions of the thyroid gland in children treated for medulloblastoma because of the high risk of hypothyroidism resulting from the treatment. The change in the echogenicity of the thyroid gland may be an early marker for a dysfunction of this organ in children treated for medulloblastoma.

The study assessed 3.5-year treatment with continuous subcutaneous insulin infusion (CSII) in well-controlled children with duration of type 1 diabetes mellitus longer than 1 year. Following groups were observed: the CSII group-40 children and the multiple injections (MDI) group-36 patients (age-matched, the mean of 6.5+/-2.1 and 7.1+/-1.8 years, respectively). At the onset of the follow-up both groups were comparable in age, HbA1c, daily insulin requirement (DIR), body weight, height and BMI. They were followed from the start, and every 6 months in relation to DIR, HbA1c, acute complications (DKA, hypoglycaemia) and physical development. Mean HbA1c and DIR for the whole study period were lower in the CSII versus MDI group (6.90+/-0.54 vs 7.22%+/-0.16 and 0.75+/-0.16 vs 0.88+/-0.13 U/kg/d; p0.05). HbA1c was lower in the CSII versus MDI group in months 6 and 42 (6.95 vs 7.29%, and 6.91 vs 7.43%, respectively; p0.05). DIR was significantly lower at most intervals in the CSII group. No significant differences regarding number of complications and anthropometry were found. CSII allows for near-normal metabolic control and lower insulin requirement comparing to the MDI method. CSII is safe treatment, assuring harmonious child's development.

Aim: The aim of the study was to determine the prevalence of glucose intolerance among school children in south-eastern Poland. Methods: Schools were randomly selected in the area and the entire school population was studied. We examined 1083 children (510 boys and 573 girls) in the mean age 14.49 years (age range: 7.9–19 years). Their weight and height were measured and body mass index (BMI) was calculated. Patients were classified as overweight or obese based on International Obesity Task Force (IOTF) criteria. We tested fasting glucose level in randomly selected children with normal weight (N = 83) in all overweight and obese subjects (N = 229). In children with fasting blood glucose level higher than 5.5 mmol/L (100 mg/dL) oral glucose tolerance test (OGTT) was performed. Results: About 17.8% of children were overweight and 4.6% obese. Fasting hyperglycemia was found in 16.7% obese children. The calculated prevalence of fasting hyperglycemia for entire population was 6.7/1000. Impaired glucose tolerance (IGT) was found only in obese children. The prevalence of glucose intolerance in obese children was 7.1%, in contrast the calculated prevalence of glucose intolerance for the entire population was 3.0/1000 (95% confidence interval: 0–8.4/1000). Conclusion: Despite relatively high number of obese children, the prevalence of IGT among schoolchildren of south-eastern Poland remains low.

Objective: To assess the frequency of obesity, overweight and underweight (thinness) in Polish 7–9-year-old children using a population specific definition as compared to the French, US and IOTF references based on body mass index (BMI). Design: Height and weight were measured and BMI was calculated in a randomly selected representative sample of 7–9-year-old Polish children (N = 2916; 1445 girls; 1471 boys) to define their nutritional status. Overweight (including obesity) was estimated according to four and underweight (thinness) according to three definitions Polish national references; French references; United States references and International Obesity Task Force references. Results: According to Polish, French, U.S. and IOTF references overweight (including obesity) was found in 12.1, 14.3, 20.7 and 15.4% of children, respectively; 3.5, 9.4 and 3.6% of children were obese according to national, U.S. and IOTF references, respectively while underweight (thinness) was present in 6.9, 2.6 and 4.2% of children according to Polish, French and U.S. references, respectively. A trend of decreasing overweight and increasing underweight through age classes was observed. Conclusion: The rates of underweight (thinness), overweight and obesity in Polish 7–9-year-old children calculated according to the national, French, U.S. and IOTF references were significantly different. Therefore even if the IOTF reference is considered superior for international epidemiological studies, population specific standards should probably coexist for clinical practice.

Malecka-Tendera E, Lewin-Kowalik J, Wazowski R, Piskorska D, Klimek K. Lipid profiles in Polish adolescents from high- and low-risk families: tracking unfavourable lipid levels over a one-year period. Acta Paediatr 2000; 89: 980-14. Stockholm. ISSN 0803-5253 In a country with a high cardiovascular mortality rate, lipid profiles were studied in 929 adolescents (440 from affected and 489 from non-affected families for cardiovascular disease and hypercholesterolaemia). In 334 children with elevated or borderline total cholesterol level, lipid profiles were re-measured after a 1-y period. In boys from affected families, in contrast to boys from non-affected families, significantly higher total cholesterol levels (4.36 ± 0.81 vs 4.19 ± 0.78 mmol/L, p < 0.05) and LDL-C level (2.1 ± 0.72 vs 1.89 ± 0.79 mmol/L, p < 0.05) and significantly lower HDL-cholesterol levels (1.81 ± 0.34 vs 1.93 ± 0.38 mmol/L, p < 0.05) were found. The odds ratio for being in the most unfavourable decile for LDL-cholesterol was significantly higher for girls from affected families (2.17, p = 0.02). A relatively high HDL-C level as well as a favourable TC/HDL-C ratio was demonstrated in all groups, being lowest in boys from affected families. A significant correlation was found between baseline lipids and their values re-measured after I y. It is concluded that (1) adolescents with a positive family history are at increased risk for unfavourable lipid profile, (2) adolescents with clevated total cholesterol and LDL-cholesterol levels remain hypercholesterolacmic after a 1-y period and are therefore cardidates for further biochemical and clinical monitoring, and (3) children with clevated total cholesterol may not be at high risk for cardiovascular disease owing to the favourable TC/HDL-C ratio. The study results do not inducate that general cholesterol screening in Polish adolescents is necessary, as the proportion of children with clevated LDL-sholesterol is relatively low.

Revised Guidelines of Polish National Societies Prepared on the initiative of the Polish Group for Endocrine Tumours approved in their final version between November 16th and 28th, 2015 by the Scientific Committee of the V Conference "Thyroid Cancer and other malignancies of endocrine glands" organised between November 14th and 17th, 2015 in Wisla, Poland; called by the following Societies: Polish Endocrine Society, Polish Society of Oncology, Polish Thyroid Association, Polish Society of Pathologists, Society of Polish Surgeons, Polish Society of Surgical Oncology, Polish Society of Clinical Oncology, Polish Society of Radiation Oncology, Polish Society of Nuclear Medicine, Polish Society of Paediatric Endocrinology, Polish Society of Paediatric Surgeons, Polish Society of Ultrasonography Gliwice-Wisła, 2015 DECLARATION: These recommendations are created by the group of delegates of the National Societies, which declare their willingness to participate in the preparation of the revised version of the Polish Guidelines. The members of the Working Group have been chosen from the specialists involved in medical care of patients with thyroid carcinoma. Directly before the preparation of the Polish national recommendations the American Thyroid Association (ATA) published its own guidelines together with a wide comment fulfilling evidence-based medicine (EBM) criteria. ATA Guidelines are consistent with National Comprehensive Cancer Network (NCCN) Recommendation. According to the members of the Working Group, it is necessary to adapt them to both the specific Polish epidemiological situation as well as to the rules referring to the Polish health system. Therefore, the Polish recommendations constitute a consensus of the experts' group, based on ATA information. The experts analysed previous Polish Guidelines, published in 2010, and other available data, and after discussion summed up the results in the form of these guidelines. It should be added that Part II, which constitutes a pathological part, has been available at the website of the Polish Society of Pathologists for acceptance of the members of the Society, and no essential comments have been proposed. The Members of the Group decided that a subgroup elected from among them would update the Guidelines, according to EBM rules, every year. The Revised Guidelines should help physicians to make reasonable choices in their daily practice; however, the final decision concerning an individual patient should be made by the caring physician responsible for treatment, or optimally by a therapeutic tumour board together with the patient, and should take into consideration the patient's health condition. It should be emphasised that the recommendations may not constitute a strict standard of clinical management imposed on medical staff. The data from clinical trials concerning numerous clinical situations are scarce. In such moments the opinion of the management may differ from the recommendations after considering possible benefits and disadvantages for the patient.

Turner syndrome is the most common example of hypergonadotropic hypogonadism resulting from gonadal dysgenesis. Most patients present delayed, or even absent, puberty. Premature ovarian failure can be expected even if spontaneous menarche occurs. Laboratory markers of gonadal dysgenesis are well known. The choice of optimal hormone replacement therapy in children and adolescents remains controversial, particularly regarding the age at which therapy should be initiated, and the dose and route of estrogen administration. On the basis of a review of the literature, we present the most acceptable schedule of sex steroid replacement therapy in younger patients with Turner syndrome.

Background: Structural defects of the hypothalamic-pituitary area in MRI are suggested to be a more accurate marker of growth hormone deficiency (GHD) than laboratory assays. Objective: To compare auxology in GHD children with the normal pituitary (NP) and with ectopic posterior pituitary (EPP), prior to therapy with recombinant human growth hormone (rhGH) , extending the follow-up to two years of the treatment, within one centre. Design: 86 GHD patients were divided in 2 groups depending on the pituitary MRI: EPP (23 children, 3.2-16.8 years old) and the NP group (63 children , 3.3-14.8 years old). Height deficits to the population (hSD), parents (hSD-mpSD), the change of hSD and bone/chronological age ratio were assessed before, after 12 and 24 months of rhGH therapy. Results: Height deficits before treatment were significantly greater in EPP comparing to NP (median -4.07 [7.06;-2.75] vs -3.15 [-4.9;-2.35] for hSD, and -3.65 [-7.06;-1.21] vs -1.83 [-4.31;-0.28] for hSD-mpSD; p

Wstęp. Według aktualnych doniesień obrót kostny w okresie dojrzewania jest związany ze składem masy ciała, a u otyłych dzieci nadmierna masa tkanki tłuszczowej może mieć niekorzystny wpływ na masę kostną. Celem pracy była ocena zależności pomiędzy markerami obrotu kostnego, stanem odżywienia i stężeniem leptyny u dzieci otyłych. Materiał i metodyka. W grupie 54 otyłych dzieci (25 chłopców i 29 dziewcząt) w wieku 13,96±2,78 lat oznaczono stężenia osteokalcyny (OC) oraz N-końcowego telopeptydu kolagenu typu I (NTx). Ponadto wyznaczono wskaźnik OC/NTx i stężenie leptyny. Oceny antropometrycznej dokonano na podstawie BMI Z-score, wskaźników WHR i W/HtR oraz analizy parametrów składu ciała oznaczonych metodą bioimpedancji elektrycznej (BIA) (tkanka tłuszczowa – FAT, tkanka beztłuszczowa – FFM, przewidywana masa mięśniowa – PMM i całkowita zawartość wody – TBW). Grupę kontrolną stanowiło 75 zdrowych dzieci (38 chłopców i 37 dziewcząt) z prawidłową masą ciała. Wyniki. OC była znamiennie niższa w całej grupie dzieci otyłych, szczególnie w grupie otyłych dziewcząt (odpowiednio p0,05 i p0,0001). Obrót kostny wyrażony poprzez OC/NTx był znamiennie niższy tylko w grupie otyłych dziewcząt (p0,01). Stwierdzono znamienną negatywną korelację pomiędzy OC i BMI Z-score u wszystkich badanych dzieci. Markery obrotu kostnego (OC i OC/NTx) korelowały znamiennie ze wszystkimi parametrami antropometrycznymi tylko u dziewcząt. Ponadto poziom NTx korelował dodatnio ze stężeniem leptyny zarówno w całej populacji, jak i w grupie dziewcząt (odpowiednio p0,05 i p0,0001). Wnioski. Obrót kostny jest zależny zarówno od ilości tkanki tłuszczowej, jak i jej hormonalnej aktywności. Można przypuszczać, że zaburzony obrót kostny u otyłych dzieci, a szczególnie u otyłych dziewcząt w okresie dojrzewania, może negatywnie wpływać na jakość tkanki kostnej i wiązać się z większym ryzykiem złamań w późniejszym okresie życia.

Objective: Secular trend in childhood obesity is a well-known phenomenon, and it is important to monitor it in cross-sectional studies. The study aim was to estimate prevalence of obesity and overweight in Polish 7- to 9-year-old children and to compare the results with a French study based on the same protocol. Research Methods and Procedures: The study was conducted in 2001 according to the protocol of the European Childhood Obesity Group. Height and weight were measured, and BMI was calculated to define nutritional status in a randomly selected group of 2916 (1445 girls and 1471 boys) primary school children. Obesity and overweight were estimated according to International Obesity Task Force references with curve for obesity and overweight passing through 30 and 25 kg/m2 at age 18, respectively. Results: Overweight (including obesity) was found in 15.4% of Polish children (in 15.8% of girls and 15.0% of boys) and obesity in 3.6% (3.7% of girls and 3.6% of boys) compared with 18.1% of overweight and 3.8% of obese children in French study. There was no significant difference in nutrition status between Polish and French children except for higher frequency of overweight in French 9-year-old boys. The same trend of decreasing overweight through age classes was observed in both populations. Discussion: The prevalence of obesity and overweight (including obesity) in prepubertal children estimated in two European countries according to the same protocol and using the same references showed little differences between the two populations despite higher prevalence of obesity in Polish than French adults.

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.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.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).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.

Clinical and hormonal features of polycystic ovary syndrome (PCOS), which may be present already in adolescence, can significantly influence the psychological development and wellbeing of a young woman.The aim of this pilot study was to determine social competence and gender roles in adolescent girls with PCOS compared to healthy peers, and to evaluate the relationship between psychological profile and clinical and hormonal components of PCOS.In 28 adolescent girls with PCOS, and 12 healthy regularly menstruating girls, clinical evaluation and hormonal profile were assessed and social competence inventory (SCI) and psychological gender inventory (PGI) tests were performed.There were no significant differences in all parts of SCI in absolute numbers or in sten scores between the study and the control group. Also in PGI, in both the feminine and masculine gender schemes, the differences between the groups were statistically insignificant. In the study group, DHEAS concentration correlated positively with self presentation score (r = 0.4, p = 0.03). There was also a significant negative correlation between testosterone level and SCI score (r = -0.5, p = 0.01) as well as assertiveness score (r = -0.5, p = 0.02). No significant correlations between SCI or PGI with BMI z-score or hirsutism score were found.Despite the existence of clinical and biochemical features that can influence sociopsychological condition, in adolescent girls with PCOS, social abilities and sex-typical behaviours do not seem to be disturbed.

To evaluate auxology and metabolic disturbances in children with craniopharyngioma, and to present observational results of treatment of metabolic sequels with metformin and micronized fenofibrate.The studied group comprised 22 children [median age at diagnosis 10.5 (0.17–16.75) years; median follow-up 5.1 years]. Assessment included height standard deviations (SDS), body mass index (BMI) SDS, concentrations of lipids, glucose and insulin (fasting or oral glucose tolerance test) and homeostatic model assessment of insulin resistance (HOMA-IR) index. Ten adolescents with hyperinsulinemia and dyslipidemia received therapy with metformin (500–1500 mg/daily) and micronized fenofibrate (160 mg/daily).At diagnosis, median hSDS was –1.66 (range: –4.08; +0.1). Nine (40.9%) children were growth hormone-treated. There was gradual increase of BMI SDS, 18 (81.8%) patients being overweight at the final assessment. Dyslipidaemia was found in 19 patients (86.4%), hyperinsulinaemia in 11 patients (50%) and elevated HOMA-IR in 15 patients (68.2%). Decrease of triglycerides [median 263.5 (171–362) mg/dL vs. 154 (102–183) mg/dL] and HOMA-IR [8.64 (5.08–12.65) vs. 4.68 (0.7–7.9)] was significant in the group treated with metformin and fenofibrate for 6 months.Significant auxologic changes and metabolic abnormalities were found in children treated for craniopharyngioma. The use of metformin and fenofibrate seemed to attenuate these disturbances in a short-term observation.

The researchers and clinicians need to gain a better understanding of the social and environmental contexts by which childhood obesity is becoming a growing problem of twenty-first century and develop more efficacious methods of prevention and treatment. Summary of the actions and achievements of the European Childhood Obesity Group (ECOG) since its foundation in 1991 until the 16th anniversary. Review of the sessions of the 16th ECOG workshop devoted to epidemiology, prevention, risk factors, comorbidities and treatment of childhood and adolescent obesity. Meta-analysis of epidemiological data on childhood obesity in Europe underscores an urgent need of preventive actions in which general practitioners may play an important role. Media should get actively involved in promotion of healthy lifestyle. Metabolic syndrome, non-alcoholic steatohepatitis, diabetes type 2 and sleep apnoea syndrome are becoming more common in obese adolescents. In morbid obesity with severe comorbidities, more aggressive ways of treatment may be considered. European Childhood Obesity Group members should get actively involved into targeted prevention and intervention project to promote healthy lifestyle and successful weight control.

Transition in health care for young patients with Turner's syndrome (TS) should be perceived as a staged but uninterrupted process starting in adolescence and moving into adulthood. As a condition associated with high risk of short stature, cardiovascular diseases, ovarian failure, hearing loss and hypothyroidism, TS requires the attention of a multidisciplinary team. In this review paper, we systematically searched the relevant literature from the last decade to discuss the array of problems faced by TS patients and to outline their optimal management during the time of transfer to adult service. The literature search identified 233 potentially relevant articles of which 114 were analysed. The analysis confirmed that all medical problems present during childhood should also be followed in adult life. Additionally, screening for hypertension, diabetes mellitus, dyslipidaemia, and osteoporosis is needed. After discharge from the paediatric clinic, there is still a long way to go.

Familial hypercholesterolemia (FH) affects on average 1 in 500 individuals in European countries, and it is estimated that FH in Poland may affect more than 80,000 people. However, in Poland, only about 20% of the population is estimated to have been diagnosed with FH, of which only a small number receive adequate treatment. FH results in more rapid development of atherosclerosis and is associated with a high risk of cardiovascular events. Atherosclerosis develops beginning in childhood in patients with FH and reaches advanced stages before clinical manifestations develop. Inadequate diagnostics and treatment of FH in Polish children suggests a need for raising the level of awareness and understanding of the condition in both society and among health professionals. These recommendations present the current epidemiological status, guidelines for diagnosing FH in Polish children and adolescents, and effective treatment options.

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.

Background: Kawasaki disease (KD) remains a diagnostic challenge due to its nonspecific clinical symptoms. Delayed treatment initiation increases the risk of coronary complications. Aim: To evaluate the risk of coronary artery involvement and perform a prospective analysis of its course in children hospitaliseddue to KD. Methods: KD was diagnosed in 38 children, including 25 boys and 13 girls, aged 1.5–118 months (median 37.5 months). We assessed the risk of cardiac complications in relation to the presence of a complete or incomplete form of the disease, age, gender and laboratory test results, as well as the timing of treatment initiation. Thirty-six children were followed for 1–9 yearsin a cardiology clinic. Results: More than 80% of patients with KD were younger than 5 years. Eleven (29%) of them had an incomplete form of the disease. Coronary artery abnormalities were found in 10 (26%) children, insignificantly more often among those within complete KD. Each day of treatment delay increased the complication rate by almost 1.5 (OR 1.45, p = 0.009). Treatment initiated 10 days after the onset of the disease increased this risk almost nine times (OR 8.99, p = 0.007). No significant differences in respect to age (p = 0.431), gender (p = 0.744) and laboratory test results were found between the groups with and without coronary complications. A complete regression of coronary artery involvement was seen in 7 children, and partial regression was seen in one child. One child died and another needed coronary artery bypass grafting. Conclusions: Coronary artery aneurysms developed at a similar rate in both complete and incomplete forms of KD and the only significant risk factor was the timing of treatment initiation. In young children with fever of unknown cause lasting longer than 5 days, echocardiography is warranted. Despite a tendency for coronary artery aneurysms to regress, late complications may occur and all children require long-term follow up in a cardiology clinic.

During the last several decades, the prevalence of childhood overweight and obesity achieved an alarming rate. Unfortunately, it also affects children in the preschool age. In this review, special emphases are made on determinants and risk factors for obesity development in early age, effectiveness of preventive strategies in preschool children and outcome measurements of intervention programme in preschool children. It is concluded that prevention of overweight and obesity in younger children is not an easy task but it could be even more rewarding than in the older age group. All the efforts should be made to stop this adverse public health problem from expanding.

The aim of this study was to determine which factors increase the risk of metabolic syndrome (MS) and its components in obese children and adolescents.In 78 obese children (42 girls, 36 boys), mean age 14.6 ± 3.5 years, blood pressure, total cholesterol, triglycerides, HDL-cholesterol (HDL), insulin and glucose at fasting state as well as in OGTT were measured. Body mass index (BMI) Z-score, LDLcholesterol, and insulin resistance indices (FIGR, R-HOMA) were calculated.Metabolic syndrome was diagnosed in ten (12.8%) children. Hyperinsulinaemia was present in 42 (53.8%) subjects, increased FIGR in eight (10.3%) and increased R-HOMA in 49 (62.3%). Significant correlations between BMI Z-score ≥ 2.5 and MS occurrence and its components (hypertriglyceridaemia, isolated systolic and diastolic hypertension) were found. Hypertriglyceridaemia, low HDL and hypertension, as well as MS occurrence, correlated significantly with stimulated hyperinsulinaemia and increased FIGR. Risk of hypertension was increased 5.6 times by fasting hyperinsulinaemia. Stimulated hyperinsulinaemia increased the risk of hypertriglyceridaemia 3.7 times, risk of low HDL 14.4 times and risk of MS 10.3 times. These risks did not change significantly when adjusted for BMI Z-score.Our study results show that both BMI Z-score and OGTT stimulated hyperinsulinaemia are good predictors of MS occurrence in obese children and adolescents. The risk of dyslipidaemia and hypertension increase significantly with hyperinsulinaemia and insulin resistance, with low HDL cholesterol being the most affected.

Objective: Clinical studies suggest that the thyroid autoantibodies and/or hypothyroidism are not present in Turner’s syndrome (TS) patients before the age of 8 years and are more frequent in patients with the X isochromosome. The aim of the study was to analyze the dynamics of thyroid dysfunction in girls with TS. Design: 86 TS patients with a median age of 10.6 years were followed for 4.6 ± 3.0 years. Outcomes: The prevalence of thyroid abnormalities increased from 25.5 to 50% during the follow-up. Finally, 31 (36%) patients had positive thyroid autoantibodies and 27 (31.4%) had subclinical hypothyroidism. Hashimoto’s thyroiditis was diagnosed in 15 patients. Median age of developing thyroid antibodies and subclinical hypothyroidism was 14.1 and 14.8 years, respectively. The youngest hypothyroid patient was 1.8 years old and the youngest girl with positive anti-thyroid antibodies was 5.5 years old. Autoantibodies appeared mainly after the age of 13. The risk of developing subclinical hypothyroidism was greatest between 12 and 14 years of age. The prevalence of thyroid abnormalities was not related to the karyotype. Conclusions: Thyroid autoimmunity and dysfunctions in TS may start early, their prevalence increases with age, independently of karyotype and without any clinical symptoms and signs.

PERISCOPE project assesses factors promoting or preventing obesity development in early age. A specifi c aim is to assess preschool children ’ s physical activity habits in three different European countries. PERISCOPE has been implemented in 1094 children attending kindergartens in Denmark, Italy and Poland. The parents ’ and children ’ s physical activity habits and attitudes assessed by a questionnaire fi lled by the parents. Overweight and obesity assessed by Cole ’ s BMI cut-off points. Statistical analysis performed by χ^2 test and the test of proportion. Denmark shows the lowest rate (14.6 %) of overweight, followed by Poland (17.1%), while Italy shows the highest (21.2 %) (p < 0.0001). The Polish families show the highest rate of walking from home to kindergarten and back, followed by the Italians and, lastly, the Danish ones (p < 0.001). Almost all the Danish and Polish children, but only the 50.1 % of the Italians play outside (p < 0.001). During the weekdays, 34.9 % of Polish children, 22.2 % of Italians and 19.8 % of the Danish play outside more than one hour a day (p < 0.0001). During the weekend, 91.1 % of Polish children, 86.7 % of Danish children, but only 54.4 % of Italians play outside more than one hour (p < 0.0001). 53.5 % of Danish children, 31.9 % of Polish children, and 18.2 % of Italian ones practice sport (p < 0.0001). Danish children are the most active, the Polish are in the middle and the Italians are the least active. The difference in infrastructures (safety of walking streets, access to playgrounds/parks, etc.) can play an important role, in addition to cultural and social family characteristics, to the development of overweight.

Adams-Oliver syndrome (AOS) is a rare genetic condition in which the main diagnostic criteria are terminal transverse limb defects and aplasia cutis congenita. Within the spectra of the clinical phenotype of AOS, anthropometric abnormalities have also been reported. We present growth pattern along with hormonal assays in three patients with AOS, one being treated with growth hormone (GH). In Patient 1 (a boy, age 1.9 years), with delayed psychomotor development, epilepsy, deficits of body mass and height, cryptorchidism, low insulin-like growth factor (IGF-1) levels were found and magnetic resonance imaging (MRI) revealed hypoplasia of midline structures of the central nervous system (CNS). In Patient 2 (a girl, age 3.6 years) no significant abnormalities in development, body mass, height or neuroimaging were found. In Patient 3 (a girl, age 8.2 years), with delayed psychomotor development and short stature, low IGF-1 levels and partial GH deficiency were found; MRI revealed small pituitary and polymicrogyria. The girl started GH treatment, improving height velocity and gross coordination. Based on these observations, it seems that intensity of auxologic and hormonal deficits in children with AOS is associated with CNS lesions. Hence, there are indications for neuroimaging and interdisciplinary follow-up of psychomotor development, growth and puberty in this subset of patients with AOS.