Search

The assessment of IGF-1 concentrations is one of the parameters used for evaluating response to rhGH treatment. An increase in IGF-1 concentration positively correlates with growth improvement, whereas IGF-1 concentrations significantly above the reference range may increase the risk of possible side effects. The aim of this study was to evaluate the IGF-1 local reference ranges for the rhGH treatment centers concerned and to compare these values with the population reference ranges. A retrospective analysis was conducted on auxological data from 229 SGA patients who received rhGH treatment between 2016 and 2020 at six university clinical centers in Poland. The IGF-1 levels were assessed at baseline, after 12 and 24 months, and compared to the reference ranges provided by the local laboratory and to the population reference ranges. After 12 months, 56 patients (24%) presented IGF-1 values > 97th percentile for the local reference range, whereas only 8 (3.5%) did so using the population reference ranges; p < 0.001. After 24 months of treatment, the values were: 47 (33%) > 97th percentile by local vs. 6 (4.2%) by population standards; p < 0.001. Thirty-nine patients had rhGH dose reduced after 12 months, of whom twelve (25%) had IGF-1 > 97th percentile according to the local reference ranges and five (13%) > 97th percentile for the population. Our data suggest that different methods used to determine IGF-1 concentration and the different IGF-1 reference ranges result in a significant proportion of rhGH-treated children with elevated IGF-1 concentration and experiencing dose reductions, which may negatively affect growth rate.

The aim of our study was to analyze the incidence and the clinical characteristic of celiac disease (CD) in pediatric population with type 1 diabetes mellitus (T1DM).The data of 880 patients with T1DM, 429 girls, mean age 12.14 ±4.0 years was retrospectively retrieved from medical records. Patients with T1DM and CD were selected and a detailed analysis of CD prevalence and its clinical characteristic at the time of CD diagnosis was performed. The data were compared with the previous data from our center published a decade ago.CD was suspected in 85/880 patients (9.65%) on the base of results of serological tests, but finally CD was diagnosed in 73/880 patients with T1DM (8.3%), in 53/429 girls (12.3%) and in 20/451 boys (4.4%). Most patients (71%) had CD diagnosed after T1DM onset. The majority of CD patients (72%) was asymptomatic. The CD diagnosis was not associated with inappropriate metabolic control of diabetes. The onset age of diabetes in children with CD was significantly lower than in those without CD (5.8 ±3.6 years vs. 7.56 ±4.0 years, p = 0.04). The prevalence of CD is significantly higher than a decade ago in our center (8.3% vs. 5.7%, p = 0.001).In light of increasing prevalence of mainly asymptomatic CD in patients with T1DM, CD screening is necessary. However positive serological tests, which are currently used in screening, and are the first step of diagnostics, in some patients allow only to suspect the CD and further diagnostic steps should be performed.Celiakia (celiac disease – CD) jest autoimmunizacyjną chorobą systemową, jedną z chorób najczęściej współistniejących z cukrzycą typu 1 (type 1 diabetes mellitus – T1DM). Cel pracy: Analiza częstości występowania celiakii i jej obrazu klinicznego w populacji dzieci i młodzieży z cukrzycą typu 1.Przeprowadzono retrospektywną analizę danych z dokumentacji medycznej 880 pacjentów z cukrzycą, 429 dziewcząt i 451 chłopców, w wieku 12,14 ±4,0 lat. Wyodrębniono grupę pacjentów z cukrzycą i celiakią, analizując częstość występowania celiakii i jej obraz kliniczny przy rozpoznaniu.Celiakię zdiagnozowano u 73/880 pacjentów z T1DM (8,3%), u 53/429 dziewcząt (12,3%) i 20/451 chłopców (4,4%), chociaż CD była podejrzewana u 85/880 pacjentów (9,65%) na podstawie wyników badań serologicznych. U większości pacjentów CD została zdiagnozowana już po rozpoznaniu T1DM, u 19/73 (26%) pacjentów, CD i T1DM były rozpoznane w tym samym czasie. Większość pacjentów z CD (72%) przy rozpoznaniu nie miało objawów choroby. Dzieci z CD i T1DM zapadały na cukrzycę w młodszym wieku niż dzieci z cukrzycą bez celiakii. Wiek rozpoznania cukrzycy u dzieci z CD był niższy niż wiek rozpoznania cukrzycy u dzieci bez CD (5,8 ±3,6 roku vs 7,56 ±4,0 roku, p = 0,04). Częstość występowania CD towarzyszącej T1DM w populacji pediatrycznej rasy kaukaskiej aktualnie wynosi 8,3% i jest znamiennie wyższa niż dekadę temu (dane z naszego ośrodka to 5,7%), p = 0.001.Ze względu na narastającą częstość występowania głównie bezobjawowej celiakii u pacjentów z T1DM, monitorowanie populacji pediatrycznej w kierunku CD, aktualnie oparte na badaniach serologicznych, jest ciągle konieczne. Jednakże pozytywny wynik testów serologicznych u części pacjentów musi zostać zweryfikowany dalszymi badaniami diagnostycznymi.

Short stature resulting from SGA is an obligatory indication for treatment with rhGH. The aim of the study was to assess the response to rhGH treatment in patients treated in the years 2016–2020 in six clinical centers in Poland. During the analysis, auxological data were collected, and anthropometrical parameters (Ht, SDS Ht, HV and ΔHV) were reassessed. Subgroups of patients with dysmorphic features (DYSM), fetal alcohol syndrome (FAS) and Silver-Russel syndrome (SRS) were selected. The study group consisted of 235 children (137 boys). The medium initial age was 9.08 years, and 190 patients were in the prepubertal stage. The poor response to treatment was defined as ΔHt SDS < 0.3 and/or ΔHV < 3 cm/year. Seventeen per cent of all patients after the first year and 44% after the second year met the ΔHt SDS < 0.3 criterion, and 56% during the first and 73% during the second year met the ΔHV < 3 cm/year criterion. Our data suggest that patients with SRS may show the best response to treatment, which was sustained throughout the follow-up period. The best response in all subgroups was observed during the first 12 months of therapy. Although the proportion of patients meeting the poor response criteria was high, only a few patients exceeded the 97th percentile for IGF-1 concentration during the first year of treatment. This might suggest that increasing the dose of rhGH in the second treatment year in order to sustain accelerated HV would be safe in these patients.

To present the sonographic follow-up of intrathyroidal ectopic thymus (IET) in children and adolescent patients. Out of the 507 children referred to FNAB between 2006 and 2018, 30 (5.9%) pediatric patients (10 females), mean age 5.7 years (1.2–13.8, median 4.9 years) were diagnosed with IET. A retrospective analysis of medical files of patients diagnosed with IET between 2006 and 2018. Assessed data included ultrasound characterisation, elastographic strain ratio (SR) results and hormonal evaluation. Analysis of thyroid US scans revealed that the mean age at the first thyroid ultrasound was 5.7 (1.2–13.8, median 4.9) years, and at the last US 10.7 (3.7–18, median 10.5) years. The mean time of the IET observation was 59.6 (2–148, median 53.5) months. On US, IET was hypoechoic with multiple linear and punctate echoes, hypovascular, fusiform on longitudinal plane and round or polygonal on an axial plane, more common in the right thyroid lobe (66.7%) and located in the posterior part of the lobes (54.5%), bilateral in two patients and multifocal in one patient. SR of IET was similar to the surrounding normal thyroid tissue. Complete regression of IET was observed in 12/30 patients after a mean time of 81.7 months (median 76.5), at the mean age of 13.7 (9.2–18, median 13.9) years. FNAB was performed in 10/30 and a hemithyroidectomy in 1/30 IET patients. In the FNAB (+) group, patients were younger (5.08 vs 6.08 years) and lesions were larger (0.12 ml vs 0.05 ml) than in the FNAB (−) group. All patients with IET were euthyroid with negative TPOAb and TgAb levels. The reproducibility of unique ultrasound features of IETs allows for safe long-term follow-up of these benign lesions in the majority of pediatric patients: not only monitoring the regression of IET but also screening towards the rare occurrence of a tumor arising from the IET.

Wprowadzenie: Czynnik martwicy nowotworów α (tumor necrosis factor α - TNF-α) to cytokina biorąca udział w patogenezie wielu chorób, przede wszystkim tych, które rozwijają się na podłożu autoimmunizacji. W terapii wielu z nich, takich jak reumatoidalne zapalenie stawów, łuszczycowe zapalenie stawów, zesztywniające zapalenie stawów kręgosłupa, łuszczyca czy nieswoiste choroby zapalne jelit, stosowane są leki określane mianem anty-TNF-α. Czynnik martwicy nowotworów α jest także kluczowym czynnikiem biorącym udział w patogenezie autoimmunizacyjnej choroby tarczycy. Częstość występowania autoimmunizacyjnej choroby tarczycy u osób chorujących na wyżej wymienione choroby jest zwiększona w porównaniu z populacją ogólną. Stwarza to pytanie o wpływ terapii anty-TNF-α na ewentualny rozwój zaburzeń czynności i morfologii gruczołu tarczowego, w tym szczególnie autoimmunizacyjnej choroby tarczycy. Cel pracy: Głównym celem pracy jest ocena wpływu terapii anty-TNF-α, stosowanej w chorobach zapalnych i immunologicznych, na czynność tarczycy i rozwój autoimmunizacyjnej choroby tarczycy. Wnioski: Pytanie o wpływ terapii anty-TNF-α na rozwój autoimmunizacyjnej choroby tarczycy wciąż pozostaje bez konkretnej odpowiedzi. Ponadto dostępne badania dotyczą populacji osób dorosłych. Z uwagi na coraz szersze zastosowanie terapii anty-TNF-α także w populacji pediatrycznej, zasadne wydaje się objęcie badaniami także tej grupy pacjentów. Aim of the study: Tumour necrosis factor α (TNF-α) is a cytokine involved in the pathogenesis of many diseases, primarily those associated with autoimmunisation. Anti-TNF-α drugs are used in the therapy of many of them, such as rheumatoid arthritis, psoriatic arthritis, ankylosing spondylitis, psoriasis, or inflammatory bowel disease. TNF-a is also a key factor in the pathogenesis of autoimmune thyroid disease (AITD). The incidence of AITD in people with other autoimmune diseases is increased compared to the general population. Therefore, it would be interesting to find out if anti-TNF-a therapy of other autoimmune diseases could influence the possible development or regression of thyroid gland dysfunction, especially AITD. Aim of the study: The main aim of the study is to assess the effect of anti-TNF-α therapy used in inflammatory and immunological diseases on thyroid function and the development of AITD. Conclusions: The real impact of anti-TNF-α therapy on the development of AITD remains an open question. The available studies concern the adult population; there are no data regarding this problem in children. Due to the increasing use of anti-TNF-α therapy also in the paediatric population, it seems reasonable to evaluate this subject in this group of patients.

Acromegaly is a chronic, slowly progressive disorder caused mostly by growth hormone (GH)-producing pituitary neuroendocrine tumors (PitNETs). Recently, the associations between sex and age at the time of diagnosis and the course of acromegaly have been a focus of debate.The aim of our study was to evaluate the association between sex and age at the time of diagnosis of acromegaly and the clinical features, biochemical status, severity of the disease, and comorbidities.This was a single‑center study conducted in a group of consecutive patients with acromegaly and no family history of PitNETs. The participants were divded into 2 subgroups according to sex (male, female) and 3 subgroups according to age at the time of diagnosis: i) younger (≤40 years), ii) middle‑aged (41-59 years), and iii) elderly patients (≥60 years).Our study included 101 patients (41 men, 60 women) who met the eligibility criteria. The mean (SD) age at the time of diagnosis was 47.3 (14.1) years and the median diagnostic delay was 5 years (interquartile range, 3-10). Age at the time of diagnosis and diagnostic delay were not statistically different in men and women. Levels of insulin‑like growth factor 1 (IGF‑1) above the upper limit of age‑adjusted normal range (%ULN IGF‑1) were greater in men than in women (mean [SD], 174.8% [98.9%] vs 109.4% [66.6%]; P = 0.002), while there was no significant difference in terms of %ULN IGF‑1 between the age groups. Median basal and nadir GH levels did not differ between the sexes. Men presented with hypogonadism more frequently than women (54% vs 26%; P = 0.005). Hyperprolactinemia, hypogonadism, and macroadenoma were more frequently observed in the younger patients than in the middle‑aged and elderly individuals (all P0.05).According to our results, hypogonadism and greater IGF‑1 values were more frequently observed in men with acromegaly. Hyperprolactinemia, hypogonadism, and macroadenoma were more frequent in patients with acromegaly aged 40 years or younger.

Background Few studies indicate the occurrence of abnormal nocturnal dipping of blood pressure (BP) in 35-50% of children and adolescents with obesity. The relation between that phenomenon and metabolic complications of obesity remains unclear. To evaluate the association between disorders of glucose and lipid metabolism, and nocturnal non-dipping in pediatric patients with obesity. Methods In 207 children (53.14% girls, mean age 14 (range 2-17), mean BMI Z-SCORE 4.38, range 2.07-10.74) standard 24-h Ambulatory Blood Pressure Monitoring was performed. Normal dipping was defined as a ≥ 10% decline in BP during the night. Results There were 106 (51.21%) cases of non-dippers. The mean 24-h nocturnal systolic BP (SBP) reduction (%) was 9.9 ± 5.5. The mean 24-h nocturnal diastolic BP (DBP) reduction (%) was 15.8 ± 8.5. There was a significant correlation between BMI Z-SCORE and mean day-time SBP (r = 0.14 P = .042). There are positive correlations between 24-h heart rate (beats/min) and BMI Z-SCORE (r = 0.15, P = .027), between fasting glucose and systolic BP Z-SCORE (r = 0.17, P = .03) and between mean diastolic BP and LDL cholesterol (r = 0.23, P = .004). Total cholesterol level was significantly higher in non-dippers (4.34 vs. 3.99 mmol/L, P = .034). There were no significant differences between non-dippers and dippers regarding fasting glucose (4.6 vs. 4.8 mmol/L), 120'post load glucose (5.7 vs. 5.9 mmol/L), insulin (19 vs. 20.2 µIU/mL), HOMA-IR (2.36 vs. 2.44), LDL cholesterol (2.64 vs. 2.51 mmol/L), HDL cholesterol (1.06 vs. 1.03 mmol/L) or triglycerides (1.36 vs. 1.34 mmol/L) levels. Conclusion Nocturnal non-dipping is frequent in pediatric patients with obesity. It is associated with higher total cholesterol levels.

Recent studies have shown that sclerostin, which is mainly known as a negative regulator of bone formation, could play an important role in the crosstalk between bone and glucose metabolism. The aim of this study was to investigate the relationship between sclerostin, other bone and fat related factors as osteocalcin (OC), Receptor Activator of Nuclear Factor NF-қB ligand (RANKL), leptin and adiponectin with glucose metabolism and insulin action in children and adolescents with obesity compared with healthy children and adolescents.Fifty-five obese children and adolescents, a mean age of 13.2 ± 3.4 yrs., BMI 28.89 ± 5.5 kg/mSclerostin, osteocalcin, RANKL, and adiponectin levels did not differ between obese patients and the control group. Leptin and fasting insulin levels were significantly higher in obese subjects compared with controls (p 0.01, p = 0.01, respectively). A positive correlation between sclerostin and OC (r = 0.417, p = 0.027) and negative correlations between sclerostin and HOMA-IR and between sclerostin and age (r = -0.24, p = 0.045, r = -0.23, p = 0.037, respectively) were found in all of the subjects. Sclerostin did not correlate with HbA1c, lipids, RANKL and fat-derived leptin and adiponectin. Partial correlation analysis adjusted for age, SDS-BMI and Tanner staging only revealed a negative correlation between sclerostin and HOMA-IR (r = -0.3, p = 0.01). In obese patients this correlation was stronger than in the whole group (r = -0.39, p = 0.005). Moreover, a negative correlation between sclerostin and insulin was found in obese patients (r = -0.39, p = 0.006). In the healthy cohort, sclerostin had a negative correlation only with C-peptide (r = -0.79, p = 0.02).Sclerostin could play an important role in the regulation of glucose metabolism in children and adolescents, regardless of other fat and bone-derived factors. In obese young patients it's action could be associated with decreasing insulin resistance.

Pituitary stalk lesions (PSL) are a very rare pathology. The majority of conditions affecting the infundibulum do not present with clinically apparent symptoms, what makes the diagnosis difficult. The recognition might be also complicated by the non-specific and transient characteristics of hormonal insufficiencies. In our study, we retrospectively analysed demographic, biochemical, and clinical long-term data of 60 consecutive, unselected adult patients (34 women and 26 men) with PSL diagnosed in the Department of Endocrinology, Jagiellonian University in Krakow. The diagnosis of PSL were categorized as confirmed, probable, or undetermined in 26, 26 and 8 patients, accordingly. Given the possible aetiology congenital, inflammatory, and neoplastic stalk lesions were diagnosed in 17, 15 and 20 patients, accordingly. In eight cases the underlying pathology remained undetermined. The most common pituitary abnormality was gonadal insufficiency diagnosed in 50.8% of cases. Diabetes insipidus was detected in 23.3% of cases. In 5% of patients the pituitary function recovered partially over time. Stalk lesions were extensively discussed in the context of the current literature. Based on the published data and our own experience a diagnostic algorithm has been proposed to help physicians with the management of patients with this challenging condition.

INTRODUCTION Although the diagnostic criteria for diabetes in children and adolescents should be widely known to all healthcare professionals, many cases of type 1 diabetes (DM1) are still not recognized in time. The aim of this study was to compare the experiences with the diagnosis of DM1 of young doctors during training and specialists working as primary health care physicians in Poland. MATERIAL AND METHODS 50 specialists in paediatrics or family medicine (average professional experience of 14.6 years) and 50 doctors, and those without specialization (up to 4 years after graduating from medical studies, average professional experience of 1.4 years) participated in the survey. The questionnaires were conducted from November 2019 to November 2020. RESULTS Most of the study participants correctly answered the questions about the diagnostic criteria of diabetes and its management at the moment of diagnosis, except for the question regarding diagnostic criteria for diabetes in oral glucose tolerance test. The correct answers varied from 96% to 72% among medical specialists and physicians during the training, respectively. What is interesting is the relatively small number of diagnosed cases of DM1 during the entire professional career of specialists (0-12 cases), compared to the doctors without specialization (0-5 cases). Medical specialists declared more frequently the use of a glucometer in their daily practice (mean 6 vs. 1, p < 0.05), but after taking into account the years of experience, the difference was insignificant. CONCLUSIONS It is important to educate primary care physicians, despite their professional experience. Practical education of physicians is also necessary.

Introduction: The influence of growth hormone (GH) treatment on amino acids (AAs) profile in patients with Turner syndrome (TS) was investigated. Material and methods: The study group included girls with TS: treated with GH (GH+) and girls with no GH treatment (GH−). The control group consisted of healthy girls. Free plasma AAs were measured by the LC/MS/MS. Results: The plasma concentrations of glutamine, threonine were significantly higher in group GH+ than in group GH− (p < 0.05). In group GH− the values of glutamine, alanine, isoleucine, glutamic acid were significantly different than in the control (p < 0.05–p < 0.008). Conclusion: AAs profile in girls with TS might be characteristic for the disease but also depends on GH treatment.

Wprowadzenie: Samoistne dojrzewanie występuje u 30% pacjentek z zespołem Turnera (ZT), a jego brak jest wskazaniem do rozpoczęcia hormonalnej terapii zastępczej (HRT). Dotychczas nie określono wiarygodnych markerów określających prawdopodobieństwo wystąpienia samoistnego dojrzewania w tej grupie pacjentek. Cel pracy: Ocena przydatności oznaczeń stężeń hormonu antymüllerowskiego i inhibny B jako markerów czynności jajników i predyktorów wystąpienia samoistnego dojrzewania u pacjentek z ZT. Materiał i metody: Do badania włączono 35 pacjentek z ZT leczonych ludzkim rekombinowanym hormonem wzrostu w wieku fizjologicznego dojrzewania płciowego (10-12 lat, średni wiek 10,5 roku). Przed wprowadzeniem HRT oceniono oś gonadalną (LH, FSH, estradiol). Dodatkowo oznaczono stężenie AMH i inhibiny B. Podczas obserwacji pacjentki podzielono na dwie grupy: z samoistnym początkiem dojrzewania (SP) lub bez (WP). Samoistne dojrzewanie zdefiniowano jako rozwój piersi oceniony na stopień II lub wyższe w skali Tannera. Wyniki: Pacjentki z grupy WP pozostawały w obserwacji do średniego wieku 16 lat. Samoistny początek dojrzewania wystąpił u 16 pacjentek (średni wiek 10 lat). U pacjentek z grupy SP stwierdzono istotnie mniejsze stężenia FSH (1,14-91,1 mIU/ml, śr. 24,5 mIU/ml vs 7,7-196,4 mIU/ml, śr. 66,5 mIU/ml, p = 0,002), większe stężenia estradiolu (10,5-68,8 pg/ml, śr. 28,4 pg/ml vs 6,1-26,0 pg/ml, śr. 14,9 pg/ml, p = 0,005), AMH (0,0-3,11 ng/ml, śr. 0,8 vs 0,0-0,002 ng/ml, śr. 0,003 ng/ml, p = 0,001) i inhibiny B (0,0-110,0 pg/ml, śr. 29,1 pg/ml vs 0,0-11,0 pg/ml, śr. 1,06 pg/ml, p = 0,026). U trzech pacjentek z grupy SP bez zwiększonego stężenia FSH (FSH < 35 mIU/ml) stwierdzono zerowe stężenia AMH i inhibiny B. Kariotyp mozaikowy (nie 45,X) stwierdzono u 87,5% pacjentek z grupy SP i tylko u 47% pacjentek z grupy WP. Wnioski: Ocena stężeń AMH i inhibiny B może być wnieść dodatkową wartość podczas oceny funkcji jajników u pacjentek z ZT. Małe stężenia tych markerów mogą wskazywać na ryzyko niewydolności jajników nawet u pacjentek, które rozpoczęły dojrzewanie samoistnie i u których nie stwierdzono hipogonadyzmu hipergonadotropowego. Introduction: Spontaneous puberty occurs in 30% of patients with Turner Syndrome. Its absence is an indication for hormone replacement therapy (HRT). No reliable markers of spontaneous puberty have been defined to date. Aim of the study: To evaluate the usefulness of antymüllerian hormone (AMH) and inhibin B assessment in predicting ovarian function and spontaneous puberty in girls with TS. Material and methods: The study included 35 TS patients treated with human recombinant growth hormone (rhGH). Gonadal axis function parameters (LH, FSH and estradiol) were evaluated at the age of physiological puberty (10-12 years, mean 10.5 years), before introduction of HRT. Additionally AMH and inhibin B levels were assessed. In follow up patients were divided into 2 groups: with (SP) and without (WP) spontaneous puberty. Spontaneous puberty was defined as Tanner stage 2 or higher breast development. Results: WP patients were observed until the mean age of 16y. SP occurred in 16 patients (mean age 10 years). Patients with SP presented with significantly lower mean FSH level (1.14-91.1 mIU/ml, mean mIU/ml 24.5 vs. 7.7-196.4 mIU/ml, mean 66.5 mIU/ml, p = 0.002), higher mean estradiol (10.5-68.8 pg/ml, mean 28.4 pg/ml vs. 6.1-26.0 pg/ml, mean 14.9 pg/ml, p = 0.005), AMH (0.0-3.11 ng/ml, mean 0.8 ng/ml vs. 0.0-0.002 ng/ml, mean 0.003 ng/ml, p = 0.001) and inhibin B (0.0-110.0 pg/ml, mean 29.1 pg/ml vs. 0.0-11.0 pg/ml, mean 1.06 pg/ml, p = 0.026) levels. In three SP patients without elevated FSH level (FSH < 35 mIU/ml) we found zero concentration levels of AMH and inhibin B. SP patients had mosaic (non 45,X) karyotype in 87.5% and WP patients only in 47%. Conclusions: AMH and inhibin B assessment may be a valuable complement to the diagnosis of ovarian function in patients with TS. Low levels of these parameters may indicate a risk of ovarian failure even in patients with spontaneous puberty and without hypergonadotropic hypogonadism.

Objective: One of the hypothesized reasons for the observed increase in type 1 diabetes incidence in children is weight gain, causing accelerated disease development in predisposed individuals. This so-called accelerator hypothesis is, however, controversial. The aim was to analyze whether, in the ethnically homogeneous population of Lesser Poland, an increase in the number of cases of diabetes among children was associated with younger age and higher body mass index-standard deviation score (BMI-SDS) at the time of diagnosis. Methods: Retrospective data analysis from medical records of all patients

Girls with Turner syndrome (TS) are at increased risk of developing insulin resistance and coronary artery disease as a result of hypertension and obesity frequently seen in these patients. On the other hand, it is known that obesity is associated with increased serum levels of branched-chain amino acids (BCAAs: valine, leucine and isoleucine) and aromatic amino acids. The aim of the study is to compare the metabolic fingerprint of girls with TS to the metabolic fingerprint of girls with obesity. Metabolic fingerprinting using an untargeted metabolomic approach was examined in plasma from 46 girls with TS (study group) and 22 age-matched girls with obesity (control group). The mean values of BCAAs, methionine, phenylalanine, lysine, tryptophan, histidine, tyrosine, alanine and ornithine were significantly lower in the study group than in the control (p from 0.0025 to &lt, 0.000001). Strong significant correlation between BCAAs, phenylalanine, arginine, tyrosine, glutamic acid, citrulline and alanine, and body mass index expressed as standard deviation score BMI-SDS in the patients with obesity (p from 0.049 to 0.0005) was found. In contrast, there was no correlation between these amino acids and BMI-SDS in the girls with TS. It is suggested that obesity in patients with TS is not associated with altered amino acids metabolism.

Pierwotna nadczynność przytarczyc (primary hyperparathyroidism - PHP) u dzieci jest rzadkim schorzeniem o burzliwym przebiegu i nietypowych objawach, co utrudnia rozpoznanie i opóźnia leczenie. Prezentacja przypadku: Chłopiec, lat 15, został przyjęty na Oddział Ortopedii z rozpoznaniem obustronnego złuszczenia głowy kości udowej oraz koślawości kończyn dolnych. Zaburzenia chodu, bóle i deformacje kończyn obserwowano od 5 miesięcy, polidypsję, poliurię i utratę masy ciała od 8 miesięcy. Mimo hiperkalcemii stwierdzonej w badaniach laboratoryjnych oraz destrukcji kości, którą wykazała tomografia komputerowa bioder, wykonano zabieg ortopedyczny. W badaniu histopatologicznym stwierdzono guzy brunatne kości. Stężenie PTH - 589.1 pg/ml; (N: 10–60). Pacjenta skierowano na Oddział Endokrynologii Dziecięcej, gdzie stwierdzono ciężką hiperkalcemię (Ca c. - 4.07 mmol/l; N: 2.2-2.84), hipofosfatemię (P - 0.68 mmol/l; N: 0.95-1.75). Rozpoznano gruczolaka lewej, dolnej przytarczycy. Po zastosowaniu forsowanej diurezy, diuretyków pętlowych i kwasu pamidronowego uzyskano normokalcemię. Wykluczono powikłania hiperkalcemii oraz zespoły MEN 1 i MEN 2A. Na Oddziale Chirurgii Endokrynologicznej usunięto gruczolaka przytarczyc. Wnioski: 1) Pacjenci z PHP powinni być diagnozowani na podstawie typowych objawów klinicznych, a oznaczenie stężenia Ca przed zabiegami ortopedycznymi jest konieczne. 2) W każdym przypadku PHP należy oznaczyć Ca, P, PTH w surowicy oraz wykluczyć zespoły MEN 1 i MEN 2A. 3) Pacjenci z PHP wymagają diagnostyki wielonarządowych powikłań hiperkalcemii. 4) Po operacji gruczolaka przytarczyc niezbędna jest długoterminowa opieka endokrynologiczna. Primary hyperparathyroidism (PHP) in children is a rare condition and has a very dynamic course with nonspecific symptoms, what complicates the diagnosis and delays PHP treatment. Case presentation: A 15-year-old boy was admitted to the Orthopedic Ward with the diagnosis of juvenile bilateral slipped capital femoral epiphysis and valgus deformities. Gait disturbances, limb pains and valgus knee deformities, polyuria, polydipsia and weight loss, have been increasing for 8 months. Despite the hypercalcemia found in laboratory tests and bone destruction demonstrated in computed tomography of the hips, orthopedic correction was performed. In histopathological examination -brown bone tumors. The PTH concentration was determined (PTH - 589.1 pg/ml; (N: 10-60) and the child was referred to the Department of Pediatric Endocrinology, where severe hypercalcemia (Ca - 4.07 mmol/l, N: 2.2-2.84) and hypophosphatemia (P - 0.68 mmol/l; N: 0.95-1.75) and adenoma of the left lower parathyroid gland was diagnosed. Forced diuresis, loop diuretics and pamidronic acid were used to obtain normocalcemia. The complications of hypercalcemia were excluded; diagnostic management excluding multiple endocrine neoplasia type 1 and 2a (MEN 1 and MEN 2A) syndrome were performed. The child was referred to the Department of Endocrinological Surgery, where the adenoma of the left inferior parathyroid gland was resected. Conclusions: 1) Patients with PHP should be diagnosed of the condition based on clinical symptoms. In patients with specific symptoms, it is necessary to determine serum Ca levels, especially prior to the surgical procedures. 2) In each case of PHP, determinations should be made of blood PTH, Ca and P and detection of MEN 1 and MEN 2A syndromes. 3) Patients with hyperparathyroidism require management of multiorgan complications of hypercalcemia. 4) Following surgical treatment of parathyroid adenoma, longterm endocrinological follow-up is necessary.

Introduction and Objective Vitamin D deficiency is common in obesity; however, its contribution in the development of metabolic complications remains uncertain. The aim of the study was to examine the relationships between vitamin D status and metabolic complications. Material and Methods The results of blood pressure measurements, biochemical tests and ultrasound of the liver were compared in both groups. The study was conducted at the Children’s University Hospital in Krakow, Poland. 30 obese adolescents (mean 13.23y.o.); 18 with 25OHD levels 20 ng/mL. Results The vitamin D deficient group presented with significantly higher values of the diastolic blood pressure (125.9vs.115mmHg), uric acid level (384.7vs.301.5umol/L) and lower phosphorus level (1.4vs.1.65mmol/L), higher prevalence of arterial hypertension (44vs.8.3%), and liver steatosis (25vs.8.3%); lower, but not significantly, levels of fibroblast growth factor 23 and fibroblast growth factor 19. Conclusions Hypovitaminosis D in obese adolescents is associated with higher prevalence of arterial hypertension, liver steatosis, elevated serum uric acid and low phosphorus levels. The potential contribution of the fibroblast growth factor 23 and fibroblast growth factor 19 in these complications development needs further investigation.

Background & Methods: Pituitary stalk lesions (PSL) are various changes located in the pituitary infundibulum. The underlying pathology and exact diagnosis are difficult to establish due to their unique anatomical locus. A retrospective observational analysis of 60 adult patients (34W/26M) with pituitary lesions was performed. The mean age of diagnosis was 33.8 years (SD 23.7). The etiologies were divided into 3 groups (congenital, inflammatory, neoplastic), classified as exact, probable or unknown and characterized hormonally. Aim: To present the etiological spectrum of pituitary stalk lesions and their clinical and hormonal characteristics on the basis of long term observation in the pediatric/adult endocrinology departments of our university. Results: The most common causes of PSL were neoplasms (20/60, 33.3%, 14W/6M); congenital malformations were detected in 17/60 (28.3%, 6W/11M), while inflammatory etiology was found in 15/60 (25.0%, 9W/6M) of patients. The exact diagnosis was established in 26/60 (43.3%) cases (16 congenital malformations, 6 adenomas, 1 pituitary cancer, 1 craniopharyngioma, 1 germinoma and 1 lymphocytic hypophysitis [LH]). The probable cause was suggested in 26/60 patients (43.3%) - 10 with the suspicion of LH, 4 with histiocytosis, 3 with a metastatic tumor from a disseminated cancer, 3 craniopharyngiomas, 1 posterior pituitary lobe ectopy, 1 prolactinoma, 1 granular cell tumor, 2 adenomas and 1 pituicytoma. The origin of 8/60 PSL (13.3%) remains unknown. During hormonal assessment the most common insufficiency concerned the gonadal axis found in 29/60 (48.3%) of patients, followed by thyroid (26/60, 43.4%), somatotropic (21/60, 35.0%) and adrenal axis (20/60, 33.3%) insufficiencies. Hyperprolactinemia was detected in 20/60 (33.3%) of patients, while diabetes insipidus was confirmed in 15/60 (25%) of cases. 45 patients presented at least 1 hormonal deficit, some of them were transient. In clinical aspect, symptoms associated with hormonal deficits led to the initiation of diagnostic work-up in 29 patients (48.3%; including 15 patients (25.0%) with growth retardation). Neurological symptoms such as headaches, visual disturbances and seizures were seen in 13 patients (21.7%). Polydipsia and polyuria were the primary presentation in 11 cases (18.3%), while 5 cases (8.3%) had a clinical manifestation of hormone overproduction. Incidental diagnosis was seen in 2 female patients (3.3%). Conclusions: The diagnosis, management and treatment of the pituitary stalk lesions remains challenging. Difficulties in establishing the exact diagnosis might also be related to the non-specific, transient characteristics of the symptoms and hormonal insufficiencies. Long term observations might help better the understanding of the disease and result in improvement of management.

Purpose The metabolic effects of prepubertal low-dose estrogen replacement (LE) therapy in Turner syndrome (TS) have not been fully investigated to date. The present study aimed to compare glucose and lipids metabolism in adolescents with TS on LE and conventional estrogen replacement (CE). Methods In 14 TS (mean age 13.8), LE (17β-estradiol, 62.5 μg daily) was introduced before age 12 (mean age 10.5), and followed by a pubertal induction regimen after age 12, and in 14 CE was started after age 12 (mean 14, SD 1.96). Before, and 3 years after starting 17β-estradiol growth velocity, bone age, BMI, and selected parameters of glucose and lipids metabolism were assessed. Results There were no significant differences between LE and CE in the mean levels of any parameter before introduction of 17β-estradiol [total cholesterol (TC): 4.1 vs 4.3 mmol/L, LDL cholesterol (LDLc): 2.2 vs 2.4 mmol/L, HDL cholesterol (HDLc): 1.6 vs 1.4 mmol/L, triglycerides: 0.9 vs 1.0 mmol/L, fasting glucose: 4.2 vs 4.4 mmol/L, post-load glucose: 4.8 vs 5.5 mmol/L; fasting insulin: 6.8 vs 8.0 post-load insulin: 21.3 vs 67.0 μIU/mL, HOMA-IR 1.3 vs 1.6]. After three years of treatment, TC and LDLc levels were significantly lower in LE group (3.8 vs 4.4 mmol/L, p = 0.004; 1.9 vs 2.4 mmol/L, p = 0.03). The other parameters did not differ significantly. There was no negative impact on growth course and bone age advancement nor on BMI in LE group. Conclusion Prepubertal LE is associated with healthier lipid profile than CE in girls with TS.

Wprowadzenie: Pacjenci z wrodzoną niedoczynnością tarczycy (congenital hypothyroidism - CH) mają większe niż w populacji ogólnej ryzyko wystąpienia innych pozatarczycowych, wrodzonych nieprawidłowości. Nieprawidłowości te dotyczą głównie narządów i układów, w których prawidłowy rozwój i funkcjonowanie zaangażowane są geny odpowiedzialne również za prawidłowy przebieg organogenezy i syntezy hormonów gruczołu tarczowego. Cel pracy: Ocena częstości występowania innych wad towarzyszących CH, z uwzględnieniem możliwych przyczyn tej zależności i roli badań genetycznych. Materiał i metody: Do badania zostały włączone 54 noworodki objęte badaniem przesiewowym w kierunku CH w latach 2010-2017 w województwie małopolskim. Przeprowadzono dokładną retrospektywną analizę dokumentacji medycznej tych pacjentów. Wyniki: W grupie badanej u 20 z 54 pacjentów (37%) stwierdzono obecność współtowarzyszących CH, wrodzonych nieprawidłowości innych narządów. U 10 (18,5%) potwierdzono obecność wady serca, u 5 (9,25%) stwierdzono nieprawidłowe objawy ze strony układu oddechowego, u 7 (12,96%) stwierdzono nieprawidłowe objawy ze strony układu pokarmowego, u 5 (9,25%) rozpoznano nieprawidłowości ze strony układu moczowo-płciowego, u 3 (5,55%) stwierdzono nieprawidłowości ze strony układu nerwowego, u 6 (11,1%) rozpoznano nieprawidłowości ze strony układu mięśniowo-szkieletowego. Wnioski: Analiza uzyskanych danych i aktualnego piśmiennictwa wskazują, że największą rolę w powstawaniu pozatarczycowych nieprawidłowości u pacjentów z CH mogą mieć czynniki genetyczne. Zasadna wydaje się identyfikacja mutacji, która doprowadziła do CH. Znając mutacje mogące odpowiadać za wady współtowarzyszące CH, można by objąć pacjentów z CH odpowiednimi badaniami skriningowymi, mającymi na celu ich wczesne zdiagnozowanie, a w efekcie - odpowiednie, natychmiastowe leczenie. Introduction: Patients with congenital hypothyroidism (CH) can have an increased risk of occurrence of extrathyroidal defects compared to the general population, which could influence their development. The abnormalities occur mainly in organ systems whose development and function is dependent on genes that are also responsible for proper organogenesis of the thyroid gland and thyroid hormone synthesis. Aim of the study: The aim of the study was to evaluate the frequency of extrathyroidal defects in CH patients, taking into consideration the cause of this co-occurrence and the role of genetic tests. Material and methods: The study included 54 newborns with positive screening test for CH based on elevated TSH level, in the years 2010-2017, from South-Eastern Poland. The data was retrieved retrospectively from patients’ medical records. Results: Twenty of 54 newborns with CH (37%) had congenital defects of other organs. In 10 (18.5%) cardiac defects were found, in 5 (9.25%) abnormal symptoms of the respiratory system, 7 (12.96%) had abnormalities of the gastrointestinal system, five (9.25%) had genitourinary abnormalities, 3 (5.55%) had abnormalities of the nervous system, and 6 (11.1%) had musculoskeletal abnormalities. Conclusions: The analysis of our data and current literature suggests that genetic factors play the most important role in the development of extrathyroidal abnormalities in newborns with CH. Identifying the mutation causing CH, the potential defects that can accompany newborns with CH, screening could be offered for these patients in order to obtain an earlier diagnosis and implement early and appropriate treatment.

Wprowadzenie: Zespół Cushinga zależny od kortykotropiny (adrenocorticotropic hormone - ACTH), zwany również chorobą Cushinga (Cushing’s disease - CD), jest rzadkim schorzeniem u dzieci i młodzieży, którego objawy różnią się od obserwowanych u osób dorosłych. Cel pracy: Ocena procesu diagnostycznego i wyników terapii CD u dzieci i młodzieży. Materiał i metody: Do pracy włączono 4 kolejne pacjentki w wieku 7-15 lat z CD rozpoznaną na podstawie wyników badań hormonalnych i badania histopatologicznego usuniętego gruczolaka przysadki po przeprowadzeniu retrospektywnej analizy dokumentacji medycznej pacjentów leczonych w naszym ośrodku w latach 2012-2018. Wyniki: Mediana czasu od początku objawów klinicznych do rozpoznania CD w prezentowanej grupie pacjentów wynosiła 1,5 roku. Wszystkie pacjentki miały objawy CD typowe dla wieku rozwojowego: gwałtowny przyrost masy ciała z zahamowaniem tempa wzrastania, zaburzenia zachowania, dojrzewania bądź miesiączkowania. Diagnostyka pacjentów była przeprowadzona zgodnie z obowiązującym standardem, najwięcej trudności diagnostycznych sprawiła postać cykliczna CD rozpoznana u jednej z pacjentek. Wszystkie pacjentki przebyły przezklinową całkowitą resekcję gruczolaka przysadki. Po zabiegu wszystkie wymagały przejściowej substytucji glikokortykoidów w czasie, który wyraźnie korelował z długością czasu od wystąpienia objawów do ustalenia rozpoznania. U wszystkich uzyskano normalizację wyników hormonalnych i ustąpienie objawów klinicznych po leczeniu neurochirurgicznym, jednakże wszystkie pacjentki nadal są otyłe. W badaniach MR przysadki u 3 pacjentek nie stwierdza się odrostu masy guza, u najstarszej jest jego podejrzenie. Wnioski: W przypadku współwystępowania zahamowania procesu wzrastania (niekoniecznie niskorosłości) z przyrostem masy ciała (niekoniecznie otyłości), cech androgenizacji i zaburzeń zachowania konieczne jest przeprowadzenie diagnostyki w kierunku CD. Otyłość może być stałym powikłaniem CD rozpoznanej w dzieciństwie mimo jej skutecznego leczenia neurochirurgicznego. Introduction: Adrenocorticotropic hormone-dependent Cushing syndrome, known as Cushing disease (CD), is a rare disease in paediatric patients, the signs and symptoms of which differ from those seen in adult patients. Aim of the study: The objective of the study was to present the diagnostics and treatment results of CD in children and adolescents. Material and methods: We included four consequent patients in the study, 7-15 years old, with CD confirmed by laboratory tests and finally by histology examinations after surgery. The data were retrospectively retrieved from the medical records of all the patients from the years 2012-2018. Results: The median time from the onset of clinical symptoms to CD diagnosis was 1.5 years. All patients presented with rapid weight gain accompanying growth retardation, and behavioural, puberty, or menstruation disorders. The diagnostic process was carried out in accordance with the current standard. Diagnostic difficulties regarded the cyclic CD. All patients underwent transsphenoidal complete resection of the pituitary adenoma, and they all required transient glucocorticoid substitution for a period that correlated with the time from onset of symptoms to diagnosis. All subjects achieved normalisation of hormonal results and resolution of clinical symptoms, but all are still obese. Currently the patients are in remission, but there is a suspicion of the regrowth of the tumour mass in the eldest patient. Conclusions: In each case of the coexistence of growth velocity inhibition (not necessarily short stature) with the weight gain (not necessarily obesity) and the appearance of hyperandrogenism and depressive-anxiety disorders, biochemical diagnostics of CS should be performed. Obesity could be a chronic complication of CD in childhood, even after effective neurosurgery treatment.

Wstęp: Rozpoznanie pourazowego przerwanie szypuły przysadki, będącego stanem zagrożenia życia, jest często opóźnione. W literaturze można znaleźć nieścisłe informacje dotyczące różnicowania tego stanu z genetycznie uwarunkowanym zespołem przerwania szypuły przysadki (pituitary stalk interruption syndrome - PSIS). Opis przypadku: Przedstawiono przypadek pacjentki z pourazowym przerwaniem szypuły przysadki skutkującym wielohormonalną niedoczynnością przysadki (combined life-threatening pituitary hormone deficiency - CPHD) i typowym obrazem w rezonansie magnetycznym (magnetic resonance imaging - MRI): atroficznymi, niewidocznymi szypułą i płatem tylnym przysadki oraz hipotroficznym płatem przednim oraz - najbardziej charakterystycznym dla tego zaburzenia - hiperintensywnym sygnałem dystalnego regenerującego aksonu podwzgórza (pseudo płat tylny) w miejscu wyniosłości pośrodkowej. Ta ostatnia nieprawidłowość bywa często mylona z ektopowo położonym płatem tylnym widocznym w przypadku genetycznie uwarunkowanego PSIS. Wnioski: Obraz MRI wraz z urazem głowy w wywiadzie pozostającym w związku czasowym z wystąpieniem przejściowej moczówki prostej oraz objawami wielohormonalnej niedoczynności przysadki, jak również brak pozaprzysadkowych zaburzeń linii środkowej ciała różnicuje pourazowe przerwanie szypuły przysadki (post-traumatic pituitary stalk transection syndrome - PSTS) i genetycznie uwarunkowany PSIS. W każdym przypadku ciężkiego urazu głowy należy dokonać oceny hormonalnej funkcji przysadki oraz MRI okolicy podwzgórzowo-przysadkowej. Introduction: The diagnosis of post-trauma pituitary stalk transection, which is often life-threatening condition, is frequently delayed. In medical literature still exist conflicting data concerning distinguishing this pathology with genetic developmental pituitary stalk interruption syndrome (PSIS). Case presentation: We present a case of patient with post-trauma pituitary stalk transection resulting in combined life-threatening pituitary hormone deficiency (CPHD) and typical MRI picture: atrophic not visible stalk and posterior pituitary and hypotrophic anterior pituitary with most typical for this disorders hyperintense signal of distal regenerating axon of hypothalamus (pseudo posterior lobe) at median eminence with not visible posterior pituitary. This latter finding is often confused with ectopic posterior lobe in genetically determined PSIS. Conclusions: MRI image together with medical history of the head trauma and its strict temporal relation with transient diabetes insipidus and the occurrence of CPHD signs, as well as the lack of extrapituitary midline defects differentiate posttraumatic pituitary stalk transection syndrome (PSTS) from genetic PSIS. In every case of severe traumatic head injury hormonal evaluation and MRI of hypothalamic-pituitary axis should be performed.

Background Elevated chemerin level is observed in patients with arterial hypertension. The aim of the study was to determine the relationship between chemerin level, and parameters of blood pressure and arterial stiffness in children and adolescents with obesity but without arterial hypertension. Methods In 23 children with obesity (13 girls, mean age 9.3, SD 1.9, mean BMI SDS 3.9, SD 1.7) 24 h ABPM (Spacelabs 90,217, USA), common carotids and abdominal aorta intima media thickness measurements (Voluson 730, GE Medical System 8.5 and 3.5 MHz probes), body composition analysis (Tanita BC 418 S MA, Tokyo, Japan) were performed. Glucose, triglycerides, total, LDL and HDL cholesterol, liver enzymes, uric acid, creatinine, sodium, insulin and chemerin levels were assessed in blood sample taken after a 12-h fasting period. Results There was a significant correlation of circulating chemerin level with systolic blood pressure load in ABPM (r=0.5, p Conclusion Elevated chemerin level may be associated with increased systolic blood pressure in obese children.

Background: Cyclic Cushing's disease (CD) has been described in about 15% of adult patients with CD. In the pediatric population, diagnosis of CD is rare and cyclic presentations of the disease are not adequately understood or described. Moreover, prepubertal patients usually do not present with the typical signs and symptoms of CD, which can obscure or delay diagnosis. In this paper, we report a case of cyclic CD in a prepubertal age girls whose etiology was a pituitary corticotropinoma. Case presentation: A Caucasian 7.8 year old girl was admitted to pediatric endocrinology for the evaluation of short stature and prior obesity. The patient remained overweight despite significant lifestyle modifications, resulting in 6 kg weight loss during the prior 6 months. The physical exam was notable for precocious adrenarche and thelarche, but difficult to differentiate from steatomastia. Hypothalamo-pituitary-adrenal axis diagnostics, including single diurnal excretion of urinary cortisol, morning ACTH, and serum cortisol levels, were all within normal limits, and MRI of the pituitary gland showed no deviations at this time. Because of the clinical suspicion of cyclic hypercortisolemia, she was referred to our outpatient clinic for follow-up. After 6 months, the patient returned with rapid weight gain, accompanied by nocturnal anxiety, exacerbation of depressive behavior, insomnia and excessive sweating, and was readmitted to the ward for testing. Standard diagnostics confirmed CD and repeat MRI at 8.6 years old showed a microadenoma of 3 × 4 mm in the right side of the anterior pituitary gland. Histopathologic examination described an atypical, densely-granulated pituitary corticotroph adenoma with Ki-67 expression above 3%. Conclusion: Cyclic presentations of CD in the prepubescent age group could cause difficulties in diagnosis because of atypical signs and symptoms, which can be absent in the remission phase. Decreases in height percentiles and velocities obtained from the growth chart, as well as fluctuations in weight, and signs of androgenization can allow the clinician to suspect cycling CD in prepubertal patients. Confirmation of cyclic CD diagnosis is only possible during periods of relapse (hypercortisolemic state) and should be investigated according to the current diagnostic standard.

Obese children are exposed to short and long-term health consequences, such as dyslipidemia, hypertension and diabetes mellitus. For these reasons, the prevention and treatment of obesity in the pediatric population is a challenge for health care professionals. The aim of this study was to evaluate whether an intensive intervention based on diet and physical activity has a better impact on the auxological and biochemical parameters than standard care (intervention). The study included 20 children (six boys, 14 girls), of the mean age 8.9 (SD 1.4) before puberty. The participants were randomly assigned to two groups: Group I (starting treatment with intensive intervention), and II (starting treatment with standard intervention). After three months, the groups were switched. The comparison of the two interventions in the study group indicates a better effectiveness of intensive intervention in the improvement of anthropometric parameters and majority of biochemical ones (except for insulin concentration, HOMA IR index and LDL cholesterol). As the result of intensive intervention, the mean % of weight-to-height excess and hip circumference decreased significantly (p &lt, 0.005). Our results confirm that complex intervention based on systematic control visits, including personalized dietitian counselling and physician care, during the weight reduction process is more effective than a one-off standard visit.

Wstęp: Zaburzenia funkcji osi tarczycowej są częste u pacjentów otyłych. Ich znaczenie w rozwoju metabolicznych powikłań otyłości pozostaje niejasny. Cel badania: Ocena wpływu zaburzeń funkcji tarczycy u pacjentów otyłych na wystąpienie u nich powikłań metabolicznych. Materiały i metody: Ocena funkcji tarczycy w grupie 100 pacjentów (59 dziewcząt, 41 chłopców; średni wiek 13,5 roku) z otyłością prostą (średni BMI SDS u chłopców 4,175 i u dziewcząt 4,723) z zespołem metabolicznym rozpoznanym na podstawie kryteriów IDF 2007 ZM (ZM, 25 pacjentów) i bez. U wszystkich wykonano oznaczenie stężeń TSH, fT4, fT3 przeciwciał przeciw tyreoperoksydazie tarczycowej (TPOAb) i przeciwciał przeciwko tyreoglobulinie (TGAb) w pojedynczej próbce krwi. Wyniki: W analizowanej grupie nie stwierdzono przypadku jawnej niedoczynności tarczycy. Nie było istotnych statystycznie różnic (p > 0,05) średniej wartości TSH, fT4 i fT3 u pacjentów z ZM i bez ZM (odpowiednio: 2,7 μIU/ml vs 3,0 μIU/ml, 14,5 vs 14,0 pmol/l i 5,6 vs 6,2 pmol/l). W grupie spełniającej kryteria ZM (n = 25) tylko dwie osoby (2/25; 8%) miały stężenie TSH powyżej górnej granicy normy (N: 0,3-4,0 μIU/ml). W grupie bez ZM zwiększone stężenie TSH stwierdzono u 18 (18/75; 24%) pacjentów. Maksymalną wartość TSH (10,44 μIU/ml) odnotowano u chłopca bez ZM. Dodatnie miano przeciwciał przeciwtarczycowych (TPOAb i/lub TGAb) było obecne u 11% pacjentów: 2 pacjentów (2/25; 8%) z ZM i u 9 (9/75; 12%) bez ZM. Wnioski: Izolowane zwiększenie stężenia TSH jest częste u otyłych nastolatków, chociaż nie występuje zależność pomiędzy stężeniem TSH, fT3 ani fT4 a wartością BMI SDS. Izolowane zwiększenie stężenia TSH nie ma związku z występowaniem ZM u młodzieży. Introduction: Thyroid axis abnormalities are common in obese patients. Their contribution in the development of metabolic obesity complications remains unclear. Aim of study: To assess the influence of thyroid axis dysfunction on the occurrence of metabolic obesity complications. Material and methods: A cross-sectional review of the thyroid function in 100 obese patients (59 girls and 41 boys, mean age 13.5 years) with alimentary obesity (mean standardised body mass index [BMI SDS] in boys 4.175 and girls 4.723) complicated by metabolic syndrome (MS) diagnosed on the basis of the IDF 2006 criteria (MS, 25 patients) and uncomplicated (75 patients). TSH, fT4, fT3 thyroid peroxidase antibodies (TPOAb), and thyroglobulin antibodies (TGAb) were assessed in a single fasting blood sample. Results: There was no case of overt thyroid disease within the whole analysed group. There were no significant differences in mean TSH, fT4, and fT3 levels in patients with and without MS (2.7 μIU/ml vs. 3.0 μIU/ml, 14.5 vs. 14.0 pmol/l, and 5.6 vs. 6.2, respectively; p > 0.05). In the MS group only two patients (8%) presented with a TSH level above the upper limit of the normal range; in the group without MS elevated TSH was noticed in 18 (24%) patients. The maximal value of TSH (10.44 μIU/ml) was noticed in one boy without MS. Positive TPOAb and/or TGAb were present in 11% of all patients: two patients (8%) with MS and nine (12%) without MS. Conclusions: Isolated increased TSH level is common in obese adolescents, although there is no correlation between TSH, fT3, and fT4 levels and BMI SDS value. Isolated increased TSH level is not associated with the occurrence of MS in obese adolescents. The occurrence of asymptomatic autoimmune thyroiditis (AITD) in obese adolescents is more common than in the general population.

Introduction: Amiodarone is an important antiarrhythmic drug used in paediatric practice, mainly in children with complex congenital cardiac diseases and/or severe arrhythmias. One of the side effects of amiodarone therapy is thyroid dysfunction, which is observed in about 20% of patients. The thyroid dysfunction may present with various forms: from subclinical changes in hormone levels to amiodaroneinduced thyrotoxicosis (AIT) and amiodarone-induced hypothyroidism (AIH). Material and methods: We reported six patients in the age range from two weeks to 14 years, with complex congenital cardiac diseases and severe arrhythmias, who developed amiodarone-induced thyroid dysfunctions: thyrotoxicosis or hypothyroidism or both together. The clinical signs and symptoms of all thyroid dysfunctions were atypical, most patients presented with an aggravation of heart insufficiency. Our patients with thyrotoxicosis were treated with combined therapy including thionamides and corticosteroids due to the presentation of mixed-identified type of AIT. Results: Currently, five patients (one patient’s status is unknown) are in biochemical and clinical euthyreosis; however, in one of them it was impossible to discharge amiodarone treatment. Three of them are still treated with levothyroxine, and two do not need thyroid treatment. Conclusions: Amiodarone-induced thyroid dysfunction is usually atypical; therefore, monitoring of thyroid status before, during, and after amiodarone is demanded. AIH could significantly influence the development of the child, while AIT could significantly deteriorate the clinical status of children with complex cardiac diseases. Early and proper diagnose of AIT and AIH allows the introduction of immediate and appropriate treatment considering the cardiac condition of the young patient.

Objective Elevated liver function tests (LFTs) are common in adult Turner syndrome (TS) patients. Data regarding children and adolescents are lacking. To investigate the prevalence of abnormal LFTs in children and adolescents with TS during several years of observation; to evaluate the potential impact of increased body mass index (BMI) and sex hormone replacement therapy (HRT) on LFTs. Methods The analysis included 100 girls with TS, aged 4-16 years, all of whom were receiving recombinant human growth hormone therapy. A longitudinal study was conducted which included 81 patients. Results Mean BMI-standard deviation (SD) score of the subjects was 0.63 (SD: 1.53). Forty-four were being treated with HRT. Elevated LFTs were found in 34% of the patients overall (32% not receiving HRT vs 36% on HRT). The relative risk of increased LFTs was not higher in obese vs normal weight [odds ratio (OR): 0.2; 95% confidence interval (CI): 0.1-0.36, p=0.38 vs OR: 0.16; 95% CI: 0.08-0.3, p=0.1]. HRT did not increase the risk of abnormal LFTs activity (OR: 0.8; 95% CI: 0.5-1.2, p=0.37 vs OR: 0.7; 95% CI: 0.4-1.1, p=0.27). During the follow-up period (mean±SD=4.31±0.82 years), no patient developed overt liver disease. There was no significant increase nor decrease of abnormal LFT frequency in the subsequent years of follow up. Conclusion Constantly elevated LFTs in TS are common in children and adolescents with TS. However the causes and clinical significance remain unclear. This study suggests that obesity and HRT do not increase the risk of elevated LFTs.

The most common cause of hypothalamic-pituitary-adrenal axis suppression is systemic glucocorticoids administration. A 14- year-old boy with juvenile idiopathic arthritis receiving repeated intra-articular steroids for last 3 years developed fever, fatigue, nausea and abdominal pain. Stimulation with lowdose Synathen revealed low adrenal reserve, suggesting secondary adrenal insufficiency. Temporary hydrocortisone substitution therapy improved condition. Intra-articular steroids may cause potentially life-threatening suppression of the hypothalamic-pituitary-adrenal axis.

Recent studies have shown that sclerostin, which is a negative regulator of bone formation, could play an important role in the crosstalk between bone and glucose metabolism. The role of sclerostin and its link with glucose homeostasis in type 1 diabetes mellitus (T1D) has not been yet studied extensively in children. The aim of this study was to assess sclerostin and its relationship between other bone and fat related factors as well as glucose metabolism in children and adolescents with T1D in comparison to their healthy peers.Forty patients with T1D, 18 girls, mean age 12.3 ± 4.7 yrs, and 28 healthy as controls (13.1 ± 4.2 yrs), sex and Tanner stage-matched were included into the study. Fasting blood samples for measurement of sclerostin, osteocalcin (OC), leptin, adiponectin, vitamin D, fasting glucose, lipid profile, HbA1c, and C-peptide were taken at 8.00 AM.Sclerostin levels were significantly higher in patients with T1D than in the control group (p = 0.04) without significant differences between genders. Pearson correlation coefficients revealed a positive association between serum sclerostin levels and leptin OC (r = 0.59, p 0.001) and a negative correlation between serum sclerostin levels and leptin (r = -0.32, p = 0.02) in all of the subjects and no significant correlations between sclerostin and adiponectin, 25(OH)D3, nor lipids. In the group of T1D patients a strong positive association between serum sclerostin levels and OC (r = 0.62, p 0.001), and a negative association between serum sclerostin levels and HbA1c and leptin levels (r = -0.33, p = 0.04; r = -0.33, p = 0.03, respectively) were found. These associations were significant also after adjusting the analysis to the age, SDS-BMI and Tanner staging. In the healthy group after adjustment to age, SDS-BMI and Tanner stage, a negative correlation between sclerostin and C-peptide (r = -0.79, p = 0.02) was found.Our data suggest a possible relationship between sclerostin and glucose metabolism in children and adolescents with T1D. It would be worth to investigate if an increase in sclerostin levels could present as a potential cause of the reduction of bone formation in T1D. Both bone-derived OC as well as fat-derived leptin seems to possibly modulate the participation of sclerostin in metabolic regulation in T1D.

Purpose To present the outcomes of ultrasound (US) follow-ups in children with autoimmune thyroid disease who did not have a thyroid nodule on admission but developed papillary thyroid carcinoma (PTC) and to characterize the parenchymal changes in the thyroid gland prior to the development of PTC. Methods A retrospective thyroid US scan review of 327 patients diagnosed with AIT was performed. Forty patients (40/327, 12.2%) presented nodular AIT variant with a normoechogenic background. Eleven patients (11/327, 3.4%, 11/40, 27.5%) presenting this variant were diagnosed with PTC (nine females—mean age 15.3 years; two males aged 11 and 13 years). In five of 11 patients, the suspicious nodule that was later confirmed to be PTC was detected on the initial US at presentation. For the remaining six females (6/11) who developed PTC during the follow-up, we retrospectively analysed their US thyroid scans and these patients were selected for analysis in this study. Results On admission, the US evaluation revealed an enlarged normoechogenic thyroid gland in three patients and a hypoechogenic thyroid gland with fibrosis as indicated by irregular, chaotic hyperechogenic layers in three patients. No thyroid nodules were identified. Ultrasound monitoring revealed increasing echogenicity of the thyroid parenchyma during the follow-up. PTC developed in a mean time of 4.6 years (1 9/12–7 4/12 years) since referral to the outpatient thyroid clinic and 2.9 years (6/12–6 9/12) since the last nodule-free US thyroid scan. Conclusions Sonographic follow-up assessments warrant further exploration as a strategy to determine PTC susceptibility in the paediatric population.

Background: The mechanism of adrenal axis deterioration in PROP1 mutation remains uncertain and challenging. Aim: The aim of the project was to investigate the adrenal axis function in patients with combined pituitary function deficiency and PROP1 mutation. Methods: We performed the corticotrophin (CRH) stimulation test in 15 patients ((8W/7M) with confirmed CPHD due to the PROP1 mutation. 9/15 were familial cases from four families. Time of observation (ToO) was calculated since the first pituitary axis/ACTH insufficiency has occurred. The results were reported in the group with confirmed Adrenal Insufficiency (AI) and without AI defined as cortisol >18 ug/dl at any point during CRH test. ACTH is reported in pg/ml and cortisol in ug/dl, time of test is given in minutes (0‘, 15’,30’,45’,60’,120’). Results: The mean age of the group was 40,6 ± 12,1 years with mean 34,7 ± 10,3 years of CPHD observation (range 18 – 54 years). The In 5/15 the cortisol response met the criteria excluding AI. Among siblings there were patients both with/without AI. Both subgroups had similar ToO (without AI 35,6 ± 10,0 years vs 34,2 ± 10,3 years with AI). Mean time of AI duration was 15,0 ± 9,3 years. In the group of 5 patients without AI the mean morning cortisol was 12,48 ± 4,31 and ACTH was 31,26 ± 5,43. The mean maximal concentration of cortisol and ACTH were 24,94 ± 3,6 and 123,6 ± 39,9 respectively; Mean increase of cortisol was 12,46 ±4,04 and 92,34±34,48 for ACTH. In 10 patients with AI the mean morning cortisol was 3,33±1,39 and ACTH 22,71±6,75. The mean maximal concentration of cortisol and ACTH were 10,15±4,47 and 97,05 ± 59,15 respectively; Mean increase of cortisol was 6,83 ± 3,41 and 74,35 ± 53,72 for ACTH. For two patients high ACTH increase from 36,7 to 260 and from 28,65 to 112,0 was observed. Analysis of cortisol and ACTH response in both groups revealed that in group without AI the time of peak of ACTH was observed in 15’ (2/5) and 30’ (3/5) vs. in 15’(3/10), 30’(6/10) and 45’ in group with AI. The peak cortisol was observed in 30’, 45’ and 60’ (3/5) in group without AI vs 60’(6/10) or 120’ (4/10) in AI group. The mean maximal increase of ACTH was by 4,09±1,46 and 4,12±1,58 in AI group vs no AI group respectively. Conclusions: In patients with PROP1 mutation the adrenal axis can deteriorate long after other axis insufficiencies, however there are patients with no adrenal insufficiency even during lifelong observation. There is no specific order of deterioration even among affected siblings. In the vast majority of patients independently of cortisol increase there is ACTH response after CRH. Further studies on the pituitary function deterioration in patients with PROP1 mutation should be carried out to understand better the underlying mechanism and to set up the diagnostic timing and procedures.

Anti-Muellerian hormone (AMH) as only possible marker in the assessment of ovarian function and reserve after hematopoietic stem cell transplantation (HSCT) in prepubertal girls, young females with composed hypogonadism and females receiving hormonal replacement therapy

According to updated evidence-based national recommendations which have been published recently vitamin D deficiency remains still highly prevalent in Poland and requires supplementation.was to evaluate the effectiveness of implementation of the new national recommendations into daily practice.An analysis of medical records of 100 children aged from 6 months to 14 years admitted to the Department of Pediatrics, Hospital in Brzesko, Lesser Poland, from 1st July 2018 to 31st August 2018.41% patients declared vitamin D supplementation. Among patients under 1 year of age 3 (60%) received recommended supplementation of 400-600 IU daily, in the group of 1-11 years old 15 (19.5%) used a 600-1000 IU dose daily, 13 (17%)600 IU/daily, and 2 (2.5%)1000 IU daily, 1 patient did not remember the dose. In the group11 years of age 6 (37.5%) supplemented 800-2000 IU/day, 1 (6.3%) less than 800 IU, no one overdosed supplementation. In the group without supplementation, there were 3 patients with a de-creased 25(OH)D blood serum level (20 ng/ml). Mean 25(OH)D serum level was significantly higher in the group with vitamin D supplementation (42 vs. 33.9 ng/ml; p = 0.0006). There was no significant difference between mean 25(OH)D level in patients receiving adequate (40.5 ng/ml), to low (43 ng/ml), or to high vitamin D doses (49 ng/ml). There was no significant correlation between vitamin D dose and the 25(OH)D serum level [R = (-) 0.24, p0.05)].There is an urgent need for physicians to provide an education concerning general rules of vitamin D supplementation, because the pre-sent guidelines of the vitamin D supplementation are not implemented well enough.Zgodnie z opublikowanymi ostatnio polskimi, opartymi na dowodach naukowych, zaleceniami niedobór witaminy D występuje po-wszechnie i konieczna jest jej suplementacja.Realizacja nowych polskich zaleceń w codziennej praktyce.Analizie poddano dokumentację medyczną 100 pacjentów w wieku od 6 miesięcy do 14 lat hospitalizowanych na Oddziale Dziecięcym Szpitala w Brzesku w Małopolsce w okresie od 1 lipca 2018 r. do 31 sierpnia 2018 r.Suplementację witaminy D zadeklarowało 41% pacjentów. Wśród pacjentów poniżej 1. roku życia 3 (60%) otrzymywało rekomendo-waną dawkę suplementacyjną, tj. 400–600 IU dziennie. W grupie 1–11 lat 15 pacjentów (19,5%) stosowało rekomendowaną dawkę 600–1000 IU dziennie, 13 (17%)600 IU dziennie i 2 (2,5%)1000 IU dziennie, w przypadku 1 pacjenta nie udało się ustalić dawki. W grupie11 lat 6 pacjentów (37,5%) stosowało dawkę 800–2000 IU dziennie, 1 (6,3%) mniej niż 800 IU, nikt nie stosował dawki większej niż rekomendowana. U 3 osób spośród niestosujących suplementacji stwierdzono zmniejszone stężenie 25(OH)D w surowicy krwi (20 ng/ml). Średnie stężenie 25(OH)D w surowicy był istotnie większe w grupie stosującej suplementację (42 vs 33,9 ng/ml; p = 0,0006). Nie stwierdzono natomiast istotnej różnicy między średnim stężeniem 25(OH)D u pacjentów otrzymujących dawkę rekomen-dowaną (40,5 ng/ml), w porównaniu z przyjmującymi mniejszą (43 ng/ml) lub większą (49 ng/ml) dawkę niż zalecana. Nie stwierdzono istotnej korelacji między dawką witaminy D a stężeniem 25(OH)D w surowicy [R = (–) 0,24; p0,05)].Istnieje pilna potrzeba wprowadzenia właściwej edukacji pacjentów w zakresie zasad suplementacji witaminy D na poziomie podsta-wowej opieki zdrowotnej, ponieważ obecnie codzienna praktyka znacząco odbiega od zaleceń ekspertów.

Background The prevalence of autoimmune thyroiditis (AIT) and papillary thyroid carcinoma (PTC) is rising in children and adolescents, and the coincidence of AIT and PTC is as high as 6.3–43%. Objective To investigate the ultrasound manifestation of AIT in relation to PTC development in paediatric patients. Patients 179 paediatric patients (133 females), mean (SD) age: 13.9 (3.03) years diagnosed with AIT and referred for ultrasound evaluation. Eight patients were diagnosed with PTC (6 females). Methods Retrospective analysis of thyroid ultrasound scans of patients diagnosed with AIT. Thyroid and autoimmune status was assessed based on TSH, fT4, fT3 and increased aTPO and/or aTG and/or TRAB levels. In patients with PTC, total thyroidectomy was performed. Results Analysis of thyroid US scans revealed that the following five ultrasound variants of AIT were observed in 179 patients: the most common in 35.2%—diffuse thyroiditis with hypoechogenic background and normoechogenic parenchyma, in 30.2%—diffuse thyroiditis with irregular background, in 18.9% nodular variant with normoechogenic background, in 11.7%—micronodulations and in 3.9%—diffuse hypoechogenic background. Eight cases of PTC were diagnosed in nodular variant of AIT with normoechogenic irregular background. Conclusion Patients with AIT and nodular variant with normoechogenic irregular background of the thyroid gland on US scans are in the risk group of developing PTC and should be followed up with regular neck US assessment.

Hyperinsulinaemic hypoglycaemia (HH) is also classically referred to as "nesidioblastosis". Heterogeneous clinical manifestation of the disease causes risk of late diagnosis or even misdiagnosis. In infants and children, it can lead to serious and permanent damage to the central nervous system, which leads to the manifesting mental retardation. HH is characterised by unregulated insulin secretion from pancreatic β-cells. This effect has been correlated with nine genes: ABCC8, KCNJ11, GCK, GLUD-1, HADH1, SLC16A1, HNF4A, HNF1A, and UCP2. Mutations in these genes were found in approximately 48% of cases. The genetic background of the remaining cases is unknown. Understanding the genetic basis of familial hyperinsulinism has changed the early look at the disease. It has allowed for the differentiation of specific types of the disease. Depending on which of the nine disease-associated loci bears a pathogenic mutation, they differ in phenotype and pattern of inheritance. This review provides a brief overview of the genetic mechanisms of HH and its possible clinical presentations.