Publications by authors named "Jerzy Starzyk"

98 Publications

Diversity of Pathological Conditions Affecting Pituitary Stalk.

J Clin Med 2021 Apr 14;10(8). Epub 2021 Apr 14.

Department of Endocrinology, Faculty of Medicine, Medical College, Jagiellonian University, 31-008 Krakow, Poland.

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.
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http://dx.doi.org/10.3390/jcm10081692DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8071026PMC
April 2021

Amino acids profile in girls with Turner syndrome during growth hormone therapy.

Endokrynol Pol 2021 23;72(1):51-52. Epub 2021 Feb 23.

Department of Clinical Biochemistry, Institute of Paediatrics, Jagiellonian University Medical College, Krakow, Poland.

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.
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http://dx.doi.org/10.5603/EP.a2020.0091DOI Listing
February 2021

Bilateral slipped capital femoral epiphysis as first manifestation of primary hyperparathyroidism in a 15-year-old boy.

Pediatr Endocrinol Diabetes Metab 2020 ;26(4):220-224

Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Krakow, Poland.

Abstract: 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, long-term endocrinological follow-up is necessary.
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http://dx.doi.org/10.5114/pedm.2020.100805DOI Listing
January 2020

[In memoriam of Professor Maria Rybakowa].

Authors:
Jerzy Starzyk

Pediatr Endocrinol Diabetes Metab 2020 ;26(2):63-64

Kierownik Kliniki Endokrynologii Dzieci i Młodzieży Katedry Pediatrii, Instytut Pediatrii, Collegium Medicum, Uniwersytet Jagielloński w Krakowie/Head of the Department of Children and Youth Endocrinology, Institute of Paediatrics, Jagiellonian University Medical College in Krakow.

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http://dx.doi.org/10.5114/pedm.2020.96162DOI Listing
January 2020

Infliximab Therapy Could Decrease the Risk of the Development of Thyroid Disorders in Pediatric Patients With Crohn's Disease.

Front Endocrinol (Lausanne) 2020 15;11:558897. Epub 2020 Sep 15.

Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Pediatric Institute, Medical College, Jagiellonian University in Krakow, Krakow, Poland.

Autoimmune diseases, including autoimmune thyroid diseases (AITDs), may be associated with Crohn's disease (CD). Taking into consideration the role of tumor necrosis factor alpha (TNF-alpha) in the immune-mediated inflammation that underlies both diseases, we evaluated an ultrasound of thyroid gland in pediatric CD patients, naïve, and treated with infliximab (IFX), an anti-TNF-alpha antibody, to assess the risk for AITD and evaluated the usefulness of ultrasonography to diagnose AITD in patients with CD. Sixty-one patients with CD were enrolled in the study, including 36 patients (mean age 14.5 ± 3.5 years) treated with IFX (IFX group) for a mean of 13.9 ± 16.6 months and 25 patients (mean age 14.7 ± 2.3 years) who never received anti-TNF-alpha therapy (control group). An ultrasound examination of the thyroid gland was performed; thyroid function tests and thyroid antibodies were assessed. We found 10-times higher prevalence of decreased thyroid echogenicity in CD and IFX-naive patients compared to IFX-treated group [a significant reduction in thyroid echogenicity in 1/36 (2.8%) patients receiving IFX compared to 7/25 (28%) patients naive to biologic therapy]. The latter showed significantly lower thyroid-stimulating hormone (TSH) levels ( = 0.034) and higher levels of thyroid antibodies ( = 0.042) in comparison to control. Our data suggest the protective role of IFX therapy in the development of thyroid disorders and indicate the usefulness of thyroid ultrasound to identify the risk of probable AITD in pediatric patients with CD.
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http://dx.doi.org/10.3389/fendo.2020.558897DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7522276PMC
May 2021

Circulating chemerin level may be associated with early vascular pathology in obese children without overt arterial hypertension - preliminary results.

J Pediatr Endocrinol Metab 2020 May 29;33(6):729-734. Epub 2020 May 29.

Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Institute of Pediatrics, Jagiellonian University, Medical College, Kraków, Poland.

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<0.05). Conclusion Elevated chemerin level may be associated with increased systolic blood pressure in obese children.
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http://dx.doi.org/10.1515/jpem-2019-0460DOI Listing
May 2020

Evaluation of the usefulness of antymüllerian hormone and inhibin B as markers of ovarian activity in patients with Turner syndrome - preliminary results.

Pediatr Endocrinol Diabetes Metab 2020 ;26(2):84-88

Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Collegium Medicum, Krakow, Poland.

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. Ad-ditionally 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 concen-tration 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 hy-pogonadism.
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http://dx.doi.org/10.5114/pedm.2020.95622DOI Listing
May 2021

Anti-tumour necrosis factor α therapy - Does it increase the risk of thyroid disease or protect against its development?

Pediatr Endocrinol Diabetes Metab 2020 ;26(3):144-149

Institute of Paediatrics, Department of Children and Youth Endocrinology, Jagiellonian University Me-dical College, Krakow, Poland.

Aim Of The Study: Tumour necrosis factor α (TNF-α) is a cytokine involved in the pathogenesis of many diseases, primarily those associated with auto-immunisation. 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-α 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-α therapy of other autoimmune diseases could influence the possible development or re-gression 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.
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http://dx.doi.org/10.5114/pedm.2020.95618DOI Listing
January 2020

Prevalence of glucose metabolism disorders in a cohort of children and adolescents with obesity.

Acta Paediatr 2020 11 8;109(11):2364-2365. Epub 2020 Jun 8.

Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Pediatric Institute, Jagiellonian University Medical College, Kraków, Poland.

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http://dx.doi.org/10.1111/apa.15344DOI Listing
November 2020

Metabolic Fingerprint of Turner Syndrome.

J Clin Med 2020 Mar 2;9(3). Epub 2020 Mar 2.

Department of Clinical Biochemistry, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Wielicka St. 265, 30-663 Krakow, Poland.

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 ( from 0.0025 to <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 ( 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.
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http://dx.doi.org/10.3390/jcm9030664DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141341PMC
March 2020

Increased Incidence of Type 1 Diabetes in Children and No Change in the Age of Diagnosis and BMI-SDS at the Onset - is the Accelerator Hypothesis not Working?

J Clin Res Pediatr Endocrinol 2020 09 28;12(3):281-286. Epub 2020 Jan 28.

Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Pediatric Institute, Jagiellonian University, Medical College, Kraków, Poland

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 <14 years (n=559; 50.6% male), with newly diagnosed type 1 diabetes, in Lesser Poland between 1 January 2006 and 31 December 2017 (11 years).

Results: The incidence ratio ranged significantly (p<0.001) from the lowest in 2006 (11.2/100,000/year) to the highest in 2012 (21.9/100,000/year). The mean age of diagnosis was 8.2±3.5 years. There was no trend in decreasing diagnosis age (p=0.43). The mean BMI-SDS was -0.4±1.2. Almost all children (91.6%) presented with BMI-SDS within the normal range at the time of diagnosis, with only 2.7% of cases being obese and 5.7% underweight at the moment of diagnosis. There was no clear trend at all in BMI-SDS over the study period.

Conclusion: These results do not corroborate an increase of type 1 incidence in paediatric population being associated with younger age of diagnosis and higher BMI-SDS. This implies that the accelerator hypothesis does not hold true in the study population.
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http://dx.doi.org/10.4274/jcrpe.galenos.2020.2019.0133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7499142PMC
September 2020

Distinguishing between post-trauma pituitary stalk disruption and genetic pituitary stalk interruption syndrome - case presentation and literature overview.

Pediatr Endocrinol Diabetes Metab 2019 ;25(3):155-162

Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Pediatric Institute, Jagiel-lonian University Medical College, Krakow, Poland.

Introduction: The diagnosis of post-trauma pituitary stalk transection, which is often life-threatening condition, is frequently delayed. In medical litera-ture 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 defi-ciency (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.
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http://dx.doi.org/10.5114/pedm.2019.87708DOI Listing
April 2020

Cushing disease in children and adolescents - assessment of the clinical course, diagnostic process, and effects of the treatment - experience from a single paediatric centre.

Pediatr Endocrinol Diabetes Metab 2019 ;25(3):127-143

Institute of Paediatrics, Department of Children and Youth Endocrinology, Jagiellonian University Medical College, Krakow, Poland.

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 ex-aminations 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 ac-companying growth retardation, and behavioural, puberty, or menstruation disorders. The diagnostic process was carried out in accord-ance 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. Obesi-ty could be a chronic complication of CD in childhood, even after effective neurosurgery treatment.
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http://dx.doi.org/10.5114/pedm.2019.87179DOI Listing
April 2020

Extrathyroidal congenital defects in children with congenital hypothyroidism - observations from a single paediatric centre in Central Europe with a review of literature.

Pediatr Endocrinol Diabetes Metab 2019 ;25(3):114-121

Institute of Paediatrics, Department of Children and Youth Endocrinology, Jagiellonian University Medical College, Krakow, Poland.

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 genitouri-nary 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 extrathy-roidal 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 treat-ment.
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http://dx.doi.org/10.5114/pedm.2019.87178DOI Listing
April 2020

Cyclic Cushing's Disease in the Prepubertal Period-A Case Report and Review of Literature.

Front Endocrinol (Lausanne) 2019 18;10:701. Epub 2019 Oct 18.

Department of Pediatric and Adolescent Endocrinology, Pediatric Institute, Medical College, Jagiellonian University, Kraków, Poland.

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. 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%. 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.
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http://dx.doi.org/10.3389/fendo.2019.00701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6813230PMC
October 2019

A Comparison of the Impact of Two Methods of Nutrition-Behavioral Intervention on Selected Auxological and Biochemical Parameters in Obese Prepubertal Children-Crossover Preliminary Study.

Int J Environ Res Public Health 2019 08 8;16(16). Epub 2019 Aug 8.

Children's University Hospital in Krakow, 30-663 Krakow, Poland.

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 ( < 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.
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http://dx.doi.org/10.3390/ijerph16162841DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718985PMC
August 2019

The impact of thyroid function on the occurrence of metabolic syndrome in obese children and adolescents.

Pediatr Endocrinol Diabetes Metab 2019 ;25(1):1-5

Department of Paediatric and Adolescent Endocrinology, Chair of Paediatrics, Paediatric Institute, Jagiellonian University Medical College, Krakow, Poland.

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 obe-sity (mean standardised body mass index [BMI SDS] in boys 4.175 and girls 4.723) complicated by metabolic syndrome (MS) diag-nosed on the basis of the IDF 2006 criteria (MS, 25 patients) and uncomplicated (75 patients). TSH, fT4, fT3 thyroid peroxidase anti-bodies (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.
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http://dx.doi.org/10.5114/pedm.2019.84705DOI Listing
February 2020

Amiodarone-induced thyroid dysfunction in the developmental period: prenatally, in childhood, and adolescence - case reports and a review of the literature.

Endokrynol Pol 2019 5;70(5):392-400. Epub 2019 Jul 5.

Department of Paediatric and Adolescent Endocrinology, Paediatric Institute, Medical College, Jagiellonian University in Cracow, Cracow, Poland.

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.
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http://dx.doi.org/10.5603/EP.a2019.0030DOI Listing
July 2020

Liver Biochemical Abnormalities in Adolescent Patients with Turner Syndrome

J Clin Res Pediatr Endocrinol 2019 11 23;11(4):395-399. Epub 2019 May 23.

Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Pediatric Institute, Jagiellonian University Medical College, Kraków

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.
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http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878342PMC
November 2019

Secondary Adrenal Insufficiency due to Intra-articular Glucocorticoid Injections.

Indian Pediatr 2019 Mar;56(3):242-243

Department of Pediatric and Adolescent Endocrinology, Institute of Pediatrics, Jagiellonian University Medical College, and Children's University Hospital, Krakow, Poland.

Background: The most common cause of hypothalamic-pituitary-adrenal axis suppression is systemic glucocorticoids administration.

Case Characteristics: 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 low-dose Synathen revealed low adrenal reserve, suggesting secondary adrenal insufficiency.

Outcome: Temporary hydrocortisone substitution therapy improved condition.

Message: Intra-articular steroids may cause potentially life-threatening suppression of the hypothalamic-pituitary-adrenal axis.
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March 2019

Sclerostin and its significance for children and adolescents with type 1 diabetes mellitus (T1D).

Bone 2019 03 16;120:387-392. Epub 2018 Aug 16.

Department of Pediatric and Adolescent Endocrinology, Pediatric Institute, Medical College, Jagiellonian University in Krakow, Poland.

Introduction: 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.

Methods: 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.

Results: 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.

Conclusions: 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.
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http://dx.doi.org/10.1016/j.bone.2018.08.007DOI Listing
March 2019

Sclerostin and its association with insulin resistance in children and adolescents.

Bone 2019 03 25;120:232-238. Epub 2018 Jul 25.

Department of Pediatric and Adolescent Endocrinology, Pediatric Institute, Medical College, Jagiellonian University in Krakow, Poland.

Introduction: 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.

Methods: Fifty-five obese children and adolescents, a mean age of 13.2 ± 3.4 yrs., BMI 28.89 ± 5.5 kg/m, and 26 healthy controls (mean age 13.0 ± 4.3 yrs., BMI 19.96 ± 3.1 kg/m), sex-, and Tanner stage-matched were included into the study. Fasting blood samples for measurement of sclerostin, glucose, lipid profile, HbA1c, C-peptide, OC, RANKL, leptin and adiponectin, and vitamin D were taken at 8.00 AM.

Results: Sclerostin, 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).

Conclusions: 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.
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http://dx.doi.org/10.1016/j.bone.2018.07.021DOI Listing
March 2019

Shall we diagnose metabolic syndrome in adolescents?

Neuro Endocrinol Lett 2018 05;39(2):130-134

Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Jagiellonian University, Medical College, Wielicka St. 265 30-663 Krakow, Poland.

Background: The clinical value of the diagnosis of metabolic syndrome (MS) in children and adolescents remains unclear. The aim of the present study was to assess the occurrence of metabolic complications, other than included in 2007 IDF MS definition, in obese children and adolescents METHODS: The study included 75 (33 boys) obese adolescents (mean age 13.9 years, mean BMI SDS 4.49). Classical (fasting glucose, TGL, HDL, blood pressure) and non classical (insulin resistance [HOMA-IR], creatinine, AST, ALT, uric acid, fibrinogen, liver US and 24h BP profile) risk factors were compared between groups with and without MS. 15(8 boys) met the 2007 IDF criteria for MS.

Results: Patients with MS presented with significantly lower: BMI SDS (4.2 vs. 5.8, p=0.02), mean 24h SBP (0.8 vs. 1.0, p=0.03), and uric acid level (352.1 vs. 414.0, p=0.01). In both groups a significant percentage of abnormal results of 24hABPM (up to 42.9 and 57.6%), insulin resistance (85.7 % and 61.1%), non alcoholic fatty liver disease (57.4 % and 38.9 %) and hyperuricemia (69.2 % and 55.3%) was observed.

Conclusion: Recognizing the metabolic syndrome in adolescents does not provide any additional clinical benefits. It seems that in every obese child a wide, personalized diagnostic work-up should be performed.
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May 2018

Circadian blood pressure profiles and ambulatory arterial stiffness index in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes.

Neuro Endocrinol Lett 2017 Dec;38(7):509-518

Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland.

Objective: Lifelong steroid therapy and exposure to adrenal androgen excess in 21-hydroxylase deficient (21-OHD) congenital adrenal hyperplasia (CAH) children and adolescents may modify circadian blood pressure profile and result in vascular complications. The objective of the study was to evaluate vascular abnormalities in 21-OHD children and adolescents in relation to their genotypes.

Design: A cross-sectional study conducted at a tertiary referral center.

Patients: Seventy patients with 21-OHD CAH (27 boys), aged from 3 to 17.9 years: 9 with nonclassic CAH, 61 with classic CAH: 10 with simple virilising (SV) and 51 with salt wasting CAH (13-Del/Del, 8-Del/I2G, 7-I2G/I2G and 23-other genotypes).

Main Outcomes Measures: The assessment of systolic and diastolic BP (SBP, DBP) loads, night dip% and arterial ambulatory stiffness index (AASI) in 21-OHD CAH patients.
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December 2017

The effects of growth hormone therapy on the somatic development of a group of Polish children with Silver-Russell syndrome.

Neuro Endocrinol Lett 2017 Dec;38(6):415-421

Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland.

Objective: Silver-Russell Syndrome is both clinically and genetically a heterogeneous syndrome. Among the most important dysmorphic features of this condition are: a triangular shaped face with a small mandible, a prominent frontal eminence, a thin vermilion border with downward-pointing lip corners, clino- and brachydactyly of the 5th fingers as well as body asymmetry. The most well-known genetic mutations in this syndrome are: the 11p15 epimutation (20-60% patients) and the maternal uniparental chromosome 7 disomy present in 7% to 15% of patients. Children with SRS have severely impaired physical growth - intrauterine and after birth. This, together with the aforementioned dysmorphic features, forms the main diagnostic criteria.

Material And Methods: The study group consisted of 12 children treated with growth hormone, aged 2 to 17 (8.9±4.0 years), therein, all of whom met the phenotype diagnostic criteria by Wollmann and Price. The effects of growth hormone therapy on somatic development of these children are also presented.

Results: Height and weight improved as a result of growth hormone treatment, but the effects were significantly worse than in children with IUGR. Children from the study group presented also a smaller an improvement in growth velocity than children from the control group, but the difference was statistically insignificant.

Conclusions: Growth hormone therapy accelerates the growth of children with SRS but to a smaller extent than the growth of children born with intrauterine growth retardation without dysmorphic features.
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December 2017

Vitamin D supplementation in theory and daily practice - implementation of new updated Polish recommendations on the example of one pediatric centre.

Pediatr Endocrinol Diabetes Metab 2018 ;24(4):174-178

Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Pediatric Institute, Jagiellonian University, Medical College, Krakow, Poland.

Introduction: According to updated evidence-based national recommendations which have been published recently vitamin D deficiency remains still highly prevalent in Poland and requires supplementation.

Aim Of The Study: was to evaluate the effectiveness of implementation of the new national recommendations into daily practice.

Material And Methods: 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.

Results: 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 group >11 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, p > 0.05)].

Conclusions: 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.
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http://dx.doi.org/10.5114/pedm.2018.83363DOI Listing
May 2019

The potential impact of the hypovitaminosis D on metabolic complications in obese adolescents - Preliminary results.

Ann Agric Environ Med 2017 Dec 11;24(4):636-639. Epub 2017 May 11.

Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland.

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 <20ng/mL, 12 with 25OHD>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.
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http://dx.doi.org/10.5604/12321966.1230676DOI Listing
December 2017

Novel insights in ultrasound evaluation of thyroid gland in children with papillary thyroid carcinoma.

Neuro Endocrinol Lett 2017 Oct;38(5):367-374

Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland.

Background: The coincidence of autoimmune thyroiditis (AIT) in patients with papillary thyroid carcinoma (PTC) is ranging between 10 and 58% in the general population.

Material And Methods: In the present study retrospective ultrasound, clinical and autoimmune assessment of 24 patients diagnosed with papillary thyroid carcinoma between 2000-2016 was performed.

Results: The coexistence of PTC and AIT was found in 50% of patients with PTC. Patients were divided into two groups. PTC AIT (+) group involved 12 children at the mean age 14.9 years (range 11-20 years, 9 girls) and PTC AIT (-) 12 children at the mean age 12.9 years (range 7-18 years, 5 girls). Papillary thyroid microcarcinoma (PTMC) was diagnosed in 6 patients (in 5 with AIT). US characteristics of PTC was heterogenous: hypoechogenic with/without increased vascularisation, normoechogenic with halo, with/without microcalcifications. In 70% PTC AIT (+) and in all PTC AIT (-) patients ultrasound analysis revealed that the thyroid tissue of the whole gland was normoechogenic. Local metastases in lymph nodes were found in 40% of PTMC AIT (+).

Conclusion: Lack of increased vascularization and microcalcifications and presence of``halo`in the nodule does not exclude malignancy. Due to the presence of lymph node involvement in PTMC in all children with PTC total thyroidectomy should be performed with lymph nodes verification.
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October 2017

Intima media thickness of common carotids and abdominal aorta in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes.

Neuro Endocrinol Lett 2017 Jul;38(3):154-162

Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland.

Background: Patients with congenital adrenal hyperplasia (CAH) are at risk of vascular and metabolic complications due to steroid therapy and increased adrenal androgens exposure.

Objective: of the study was to evaluate the relation between patient's genotype and (1) intima media thickness of abdominal aorta (AIMT) and common carotid arteries (CIMT) and (2) metabolic profile.

Material And Methods: In 71 patients (27 boys) aged from 1.5 to 17.9 years, with 21-hydroxylase deficiency (21OHD) CAH: 9 with nonclassic (NC) CAH, 62 with classic CAH: 10 with simple virilising (SV) and 52 with salt wasting (SW) CAH (13-Del/Del, 8-Del/I2G, 7-I2G/I2G and 24-other genotypes), and in 77 lean and 36 normotensive obese, age and gender matched controls, assessment of CIMT and AIMT as well as hormonal and biochemical evaluation were performed.

Results: The highest AIMT was observed in SW Del/Del and I2G/I2G groups and the highest CIMT in SV CAH subgroup. CIMT and AIMT correlated significantly with testosterone and free androgen index (FAI), and were significantly higher in patients with advanced bone age and obesity independent. Significantly higher HOMA, testosterone and FAI values were found in SV CAH.

Conclusion: In CAH patients CIMT and AIMT are influenced by androgens and obesity independent. In the examined group vascular and metabolic abnormalities are pronounced more in certain subgroups of CAH (SV and SW: Del/Del) and in patients with advanced bone age.
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July 2017

Phenotype Heterogeneity in Glucokinase-Maturity-Onset Diabetes of the Young (GCK-MODY) Patients.

J Clin Res Pediatr Endocrinol 2017 Sep 30;9(3):246-252. Epub 2017 Jun 30.

Polish-American Pediatric Institute, Jagiellonian University Collegium Medicum, Department of Pediatric and Adolescent Endocrinology, Cracow, Poland.

Objective: The aim of the study was to evaluate the clinical phenotypes of glucokinase-maturity-onset diabetes of the young (GCK-MODY) pediatric patients from Southwest Poland and to search for phenotype-genotype correlations.

Methods: We conducted a retrospective analysis of data on 37 CGK-MODY patients consisting of 21 girls and 16 boys of ages 1.9-20.1 (mean 12.5±5.2) years, treated in our centre in the time period between 2002 and 2013.

Results: GCK-MODY carriers were found in a frequency of 3% among 1043 diabetes mellitus (DM) patients and constituted the second most numerous group of DM patients, following type 1 DM, in our centre. The mean age of GCK-MODY diagnosis was 10.4±4.5 years. The findings leading to the diagnosis were impaired fasting glucose (IFG) (15/37), symptoms of hyperglycemia (4/37), and a GCK-MODY family history (18/37). Mean fasting blood glucose level was 6.67±1.64 mmol/L. In the sample, there were patients with normal values (4/37), those with DM (10/37), and IFG (23/37). In OGTT, 120 min glucose level was normal in 8, diabetic in 2, and characteristic for glucose intolerance in 27 of the 37 cases. Twelve of the 37 cases (32%) were identified as GCK-MODY carriers. In the total group, mean C-peptide level was 2.13±0.65 ng/mL and HbA1c was 6.26±0.45% (44.9±-18 mmol/mol). Thirty-two patients had a family history of DM. DM autoantibodies were detected in two patients. The most common mutations were p.Gly318Arg (11/37) and p.Val302Leu (8/37). There was no correlation between type of mutations and plasma glucose levels.

Conclusion: The phenotype of GCK-MODY patients may vary from those characteristic for other DM types to an asymptomatic state with normal FG with no correlation with genotype.
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http://dx.doi.org/10.4274/jcrpe.4461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596806PMC
September 2017