Search

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.

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.

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.

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.

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 Wisla in November 2015 [1].

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.

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.

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.

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.

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-Wisla, 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.

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.

Objective Estrogen replacement therapy (ERT) for Turner syndrome (TS) is a widely discussed topic; however, the optimal model of ERT for patients with delayed diagnosis and/or initiation of therapy is still unclear, mainly due to insufficient data. We present the results of a prospective observational single-center study in which the efficacy of late-onset puberty induction by one-regimen transdermal ERT in TS girls was evaluated. Methods The analysis encompassed 49 TS girls (63.3% with 45,X) with hypergonadotropic hypogonadism in whom unified transdermal ERT protocol was used for puberty induction (first two months 12.5 μg/24 h, thereafter 25.0 μg/24 h until breakthrough bleeding). Clinical visits for examination and therapy modification took place every 3–6 months. Transabdominal pelvic ultrasound examinations were performed at least twice: at the beginning and at the end of follow-up. Results The mean (SD) age at ERT induction was 15.1 (1.3) years. The duration of follow-up was 2.4 (1.1) years. Half of all the patients had at least B2 after 0.57 years, B3 after 1.1 years, B4 after 1.97 years, and menarche after 1.82 years from ERT initiation. With earlier initiation of ERT (≤14 years), B2 (p = 0.059) was achieved faster and B4 (p = 0.018) significantly slower than with the later start of ERT. Thirty-four (94.4%) patients had at least stage B3 at menarche. The karyotype, initial weight, and body mass index had no impact on puberty tempo during ERT. The uterine volume increased significantly during ERT in all the study group (p 14 years). Conclusion The presented easy-to-use fixed-dose regimen for late-onset puberty induction allowed for a satisfactory rate of achieving subsequent puberty stages and did not influence the growth potential.

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.

Objective. The study aim was to analyze whether anthropometrical parameters and TSH values in obese children with isolated subclinical hypothyroidism (IsHT) treated with levothyroxine (LT4) and weight reduction program differ from those managed by dietary and behavior counselling only.Material and Methods. 51 obese children with IsHT, who were treated according to the same weight reduction program, were retrospectively analyzed. They were divided into two groups: Group 1,n=26, and Group 2,n=25, without or with LT4 therapy, respectively. Changes in anthropometrical (delta BMIz-score) and hormonal (delta TSH) status were analyzed at the first follow-up visit.Results. In both groups significant decrease of TSH and BMIz-score values were noted. TSH normalized in 80.9% of children from Group 1 versus 90.5% from Group 2,p= NS. Delta BMIz-score was insignificantly higher in Group 1 compared to Group 2. Delta TSH was significantly related to initial TSH level in children treated by lifestyle intervention program only.Conclusions. In obese children with sHT dietary-behavioral management intervention contributed to reduction of body mass index, irrespective of levothyroxine use. This finding suggests that moderately elevated levels of TSH are a consequence rather than cause of overweight and pharmacological treatment should be avoided.

Although subclinical hypothyroidism (SH) is a common clinical problem, its diagnosis tends to be incidental. According to the definition, it should be asymptomatic, only detectable by screening. The presence or coincidence of any symptoms leads to L-thyroxine treatment. The clinical presentation, especially in younger patients with subclinical hypothyroidism, is still under dispute. Accordingly, the aim of this paper was to review the literature from the past seven years. The literature search identified 1,594 potentially relevant articles, of which 24 met the inclusion criteria. Few studies focus on the symptomatology of subclinical hypothyroidism, and most of them analyzed a small number of subjects. A significant correlation was found by some authors between subclinical hypothyroidism and a higher risk of hypertension, dyslipidemia, and migraine. No evidence of the impact of subclinical hypothyroidism on weight, growth velocity, and puberty was revealed. As the quality of most studies is poor and no definite conclusions can be drawn, randomized, large-scale studies in children and adolescents are warranted to determine the best care for patients with SH.

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.

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.

Wstep: Kliniczne i hormonalne objawy zespolu policystycznych jajnikow (PCOS), ktore czesto ujawniają sie juz w okresie dojrzewania, mogą znacząco wplywac na rozwoj emocjonalny i psychiczny stan zdrowia mlodych dziewcząt. Celem pracy byla ocena kompetencji spolecznych oraz rol plciowych u nastoletnich dziewcząt z PCOS w porownaniu do zdrowych rowieśniczek, oraz określenie zalezności pomiedzy profilem psychologicznym a klinicznymi i hormonalnymi skladowymi PCOS. Material i metody: U 28 nastoletnich dziewcząt z PCOS oraz u 12 zdrowych, regularnie miesiączkujących dziewcząt dokonano oceny klinicznej i hormonalnej oraz przeprowadzono kwestionariusz kompetencji spolecznych (KKS) i inwentarz do oceny plci psychologicznej (IPP). Wyniki: Nie stwierdzono istotnych statystycznie roznic we wszystkich cześciach KKS ocenianych w liczbach bezwzglednych oraz skalistenowej pomiedzy grupą badaną a kontrolną. Rowniez roznice pomiedzy badanymi grupami w IPP, zarowno w skali kobiecości, jak i w skali meskości, nie byly istotne statystycznie. W grupie badanej stezenie DHEAS korelowalo pozytywnie z kompetencjami warunkującymi efektywnośc zachowan w sytuacji ekspozycji spolecznej (r = 0,4; p = 0,03). Stwierdzono rowniez istotną korelacje negatywną pomiedzy stezeniem testosteronu a KKS (r = –0,5; p = 0,01), jak rowniez kompetencjami warunkującymi efektywnośc zachowan w sytuacjach intymnych (r = –0,5; p = 0,02). Wnioski: Zalezności pomiedzy KKS i IPP a BMI z-score i hirsutyzmem nie byly statystycznie istotne. Pomimo obecności klinicznychi hormonalnych skladowych PCOS, ktore mogą wplywac na kondycje socjopsychologiczną, u nastoletnich dziewcząt z PCOS, kompetencje spoleczne oraz role plciowe wydają sie byc niezaburzone.

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.

Obesity is associated with an increased risk of premature death as individuals with obesity typically develop type 2 diabetes (T2D), dyslipidemia, fatty liver disease, hypertension and cardiovascular disease (CVD). However a subgroup of obese patients seem to be protected against metabolic complications. The aim of the review is to summarize current knowledge on the so-called “healthy obesity” with a focus on the paediatric population. There are several data showing that certain obese adolescents do not experience metabolic complications. On the other hand, other clinical longitudinal studies suggest that metabolically healthy obesity (MHO) is a dynamic concept that should be taken into account over time. However, there is an agreement that some obese adolescents should be monitored more closely for adverse events, while others may not be at a high risk. Therefore, whether MHO in youngsters is a questionable entity remains a matter of debate.

Familial hypercholesterolemia (FH) is a genetic disease that causes accelerated atherosclerosis and a high risk of occurrence of cardiovascular events. Atherosclerosis in the course of FH develops insidiously and reaches an advanced stage before the onset of clinical symptoms. Homozygous form of FH occurs in the Caucasian population with a frequency of one per million, while the heterozygous form of FH in European countries applies on average in 1 person per 500. FH diagnosis is an indication to take the whole family under medical care, education, and to introduce dietary and pharmacological treatment. The aim of treatment in children with FH is to achieve more than 50% reduction in LDL level or to achieve LDL-cholesterol concentrations below 130 mg/dl and below 100 mg/dl in diabetic children. The effectiveness of low fat diet in the treatment of FH is limited. The medicaments of first choice in the treatment of FH are statins. After initiation of therapy in children, cholesterol levels and the side effects of therapy and its impact on children's development, nutritional status, degree of sexual maturity should be routinely evaluated. Familial hypercholesterolemia is a relatively common metabolic disorder, but still quite rarely recognized and not properly treated. Early diagnosis and appropriate treatment of FH in children and adolescents can significantly reduce the risk of cardiovascular disease and sudden death in adults. The purpose of these recommendations is to describe the current epidemiological situation in Poland, to establish the guidelines for identifying FH in children and adolescents and to enable the introduction of effective treatment. This document is a supplement to the position of Lipid Expert Forum on FH in adults.

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.

The main purpose of our retrospective study was to evaluate the medical care of the patients with subclinical hypothyroidism (sHT) and to investigate the rationale for administering L-thyroxine (LT-4) to young sHT patients.Patients and Methods. Based on a retrospective review of the charts of 261 patients referred to the Endocrinology Outpatient Clinic between 2009 and 2014 with suspicion of sHT, 55 patients were enrolled for further analysis. Data collected was baseline age, anthropometric measurements, serum TSH, fT4, fT3, anti-thyroid autoantibodies, positive family history, absence/presence of clinical symptoms, length of follow-up, and data concerning LT-4 therapy (therapy: T1; no therapy: T0).Results. T1 encompassed 33 (60.0%) patients. There were no differences between T1 and T0 (p>0.05) with regard to age, TSH concentrations, BMIZ-score, and hSDS values, though follow-up was longer in T1 (p<0.01). Four (11.8%) children in T1 and none in T0 had a positive family history of thyroid disorders. Fifteen (68.2%) patients in group T0 became euthyroid. One (1.8%) girl (T1) developed overt hypothyroidism.Conclusions. A small percentage of patients can proceed to overt hypothyroidism. Only positive family history seemed to influence the decision to initiate LT-4 therapy. Further prospective studies are warranted in order to establish treatment indications, if any, and the mean recommended dosage of LT-4.

Study Objectives. The study aim was to evaluate whether hyperandrogenemia in adolescent girls with type 1 diabetes mellitus (T1DM) may adversely influence lipid profile.Design and Participants. Lipid levels in 16 diabetic girls with biochemical hyperandrogenemia (T1DM-H) aged 16.3 ± 1.2 years were compared to 38 diabetic girls with normal androgen levels (T1DM-N) aged 15.8 ± 1.2 years. 15 healthy girls served as controls (CG). In all patients, anthropometric measurements were done, and androgens and SHBG were assessed.Results. In T1DM-H, total cholesterol (TC) and low density cholesterol (LDL-ch) were significantly higher than in CG (196.1 ± 41.2 versus 162.7 ± 31.7 mg/dL,p=0.01; 117.3 ± 33.1 versus 91.3 ± 27.8 mg/dL,p=0.01, resp.). Their LDL-ch, non-high density cholesterol (non-HDL-ch) concentrations, and LDL/HDL ratio were also significantly higher than in T1DM-N (117.3 ± 33.1 versus 97.7 ± 26.7 mg/dL,p=0.03; 137.3 ± 42.9 versus 113.3 ± 40.4 mg/dL,p=0.04; 2.8 ± 3.7 versus 1.6 ± 0.5,p=0.04, resp.). In stepwise multiple linear regression, free androgen index (FAI) and waist-to-hip ratio (WHR) were associated with TC (R2=0.4,p<0.0006), non-HDL-ch (R2=0.4,p<0.0003), and LDL-ch (R2=0.4,p<0.0008). Triglycerides and LDL/HDL ratio were (R2=0.7,p<0.0001,R2=0.6,p<0.0003resp.) related to testosterone, FAI, WHR, and mean HbA1c.Conclusion. Lipid profile in diabetic adolescent girls is adversely influenced by the androgens level, particularly in the group with higher WHR and poorer glycemic control.

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.

Background: Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is a rare disease with symptoms of polydipsia, polyuria and dehydration caused by arginine vasopressin deficiency. Disease onset is within infancy or adolescence. A variety of disease-causing mutations of the arginine vasopressin neurophysin II gene (AVP) on chromosome 20p13 have been described. Methods: Two Polish families with adFNDI were screened for mutations. Processing of wild-type (WT) and mutant AVP was monitored using immunocytochemical methods in stably transfected Neuro2A cells. AVP secretion into the cell culture supernatant was investigated with an enzyme immunoassay. Results: In the first family a heterozygous p.G96D mutation was identified. Some patients additionally carried a novel heterozygous mutation p.A159T. The second family presented with a heterozygous mutation p.C98G. Confocal laser microscopy unveiled accumulation of p.G96D and p.C98G prohormones in the cellular bodies, whereas WT and p.A159T prohormones and/or processed products were located in the tips of cellular processes. Reduced levels of AVP in supernatant culture medium of p.G96D and p.C98G transfected cells in comparison to p.A159T and WT cells were found. Conclusions: We conclude that the p.G96D and p.C98G mutations cause adFNDI in the two reported families. The sequence variant p.A159T does not seem to have disease-causing effects.

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.

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