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    Assessment of thyroid function in children aged 1-13 years with beta-thalassemia major
    (Tehran University of Medical Sciences, 2011) Pirinççioğlu, Ayfer Gözü; Deniz, Turgay; Gökalp, Deniz; Beyazit, Nurcan; Haspolat, Yusuf Kenan; Söker, Murat
    Objective: Hypothyroidism usually appears in the second decade of life and is thought to be associated with iron overload in patients with thalassemia major. This study aimed to evaluate thyroid dysfunctions in patients with beta-thalassemia major and to see if they appear in the earlier period of life. Methods: Thyroid function and iron load status were evaluated in 90 children with a mean age of 7.17±3.78 years with beta-thalassemia major by measuring serum free thyroxin (FT4), serum free triiodothyronine (FT3), total thyroxin (T3), serum total triiodothyronine (T4), thyroid-stimulating hormone (TSH) and ferritin levels from serum of patients admitted to the Pediatric Department, Faculty of Medicine University of Dicle between March 2005 and July 2009. A control group formed from an age-sex matched healthy children with a mean age of 6.98±3.66 years was also included. A standard thyrotropin releasing hormone test was applied to 3 patients who had high TSH levels and were classified as subclinical primer hypothyroidism. The study was designed according to the Declaration of Helsinki and informed consent was obtained from the parents of all participants. Findings: All thyroid parameters in patients were in the normal ranges compared with the controls except three of them which had high TSH levels. Serum ferritin level (2703±1649 ng/mL) in patients was significantly higher than in controls (81.5±15.5 ng/mL). Conclusion: The work implies that hypothyroidism could be even seen in the first decade of life in patients with beta-thalassemia major in spite of improved hematological cares.
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    Evaluation of iodine and selenium level and thyroid functions in patients with cystic fibrosis
    (Walter De Gruyter Gmbh, 2025) Unal, Edip; Arica, Enes; Tas, Funda Feryal; Kolbasi, Baris; Beyazit, Nurcan; Kaplan, Ibrahim; Savas, Suat
    Objectives There is limited research on thyroid function in pediatric patients with cystic fibrosis (pwCF). This study aimed to determine the frequency of thyroid dysfunction in children and adolescents with CF and to evaluate iodine deficiency and selenium status in pwCF.Methods Sixty-two CF patients and 62 control subjects were evaluated. The anthropometric measurements, nutritional status, FEV1(Forced-expiratory-volume in 1 s) percentage, thyroid function tests (TSH, FT4, FT3), urinary iodine and selenium levels, hospitalization status in the last six months, antibiotic usage, and colonization status with staphylococcus or pseudomonas were assessed for the cases.Results The mean age of the patient group was 10.84 +/- 4.04 years. All CF patients were receiving multivitamin supplementation. Malnutrition was present in 50 % of patients, bacterial colonization in 29 %, FEV1 decrease in 38.5 %, subclinical hypothyroidism (SH) in 12.9 %, iodine deficiency in 87 % and exocrine pancreatic insufficiency in 100 %. T3 levels were found to be higher in pwCF. No significant difference was found between malnutrition and FEV1 and urinary iodine and selenium levels. Compared to the control group, pwCF had lower urinary iodine levels.Conclusions To the best of our knowledge, our study is one of the few in the literature to investigate urinary selenium levels alongside iodine in PwCF. Further research is needed to clarify and interpret elevated urinary selenium levels in this context. It was shown that iodine deficiency and the rate of SH were relatively high in pwCF. However, it was still thought that correcting iodine deficiency in these patients could improve thyroid dysfunction associated with CF.
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    Evaluation of Oral Glucose Tolerance Test Results in Children with Cystic Fibrosis
    (Kare Publ, 2024) Bestas, Asli; Unal, Edip; Karakaya, Amine Aktar; Beyazit, Nurcan; Savas, Suat; Sen, Velat
    Objectives: Current guidelines suggest that patients with cystic fibrosis (CF), who are over the age of 10, should be annually evaluated with oral glucose tolerance test (OGTT). In this study, it was aimed to evaluate the OGTT results in patients above the age of 10, who were followed up in our center with the diagnosis of CF. Methods: In the study, 46 patients with CF at the age of 10 and above, who underwent OGTT were included. Data such as gender, age at diagnosis, anthropometric measurements, lung function (FEV1 %) and the OGTT results were obtained. In the analysis, the patient groups with normal glucose tolerance (NGT) and abnormal glucose tolerance(AGT) were compared. Results: NGT was found in 37(80.4%) of the patients, and AGT was found in 9(19.5%) of the patients. The median fasting glucose levels of the patients in the NGT group and the mean glucose levels measured at 120 minutes in the OGTT were found to be lower compared to the patients in the AGT group(p<0.005). Although the mean body weight, height, VK & Idot;-SDS, FEV1in the AGT group were found to be lower than the patients in the NGT group, the difference was not statistically significant (p>0.05). Conclusion: We detected AGT in approximately 1 out of 5 patients with CF who were at the age of 10 and above. Almost half (44.4%) of the patients with AGT were found to have normal fasting blood glucose levels. Therefore, cystic fibrosis-related diabetes screening should be performed with OGTT instead of fasting blood glucose in patients with CF.
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    Evaluation of oxidative stress in children with congenital heart defects
    (Wiley, 2012) Pirinccioglu, Ayfer Gozu; Alyan, Omer; Kizil, Goksel; Kangin, Murat; Beyazit, Nurcan
    Background: A significant cause of death and chronic illness in childhood is caused by cardiovascular diseases, including congenital heart disease (CHD). This study aims to investigate the oxidative stress status and to establish its association with CHD in children. Methods: The study involves measurements of malondialdehyde (MDA), protein carbonyl (PCO), total anti-oxidant capacity, high-sensitive C-reactive protein (hs-CRP), fibrinogen and cytokine (interleukin [IL-6] and tumor necrosis factor-alpha) levels in 43 children with CHD and 30 healthy age-matched children. Results: MDA, PCO, hs-CRP, fibrinogen, IL-6 and tumor necrosis factor-alpha were significantly elevated while total anti-oxidant capacity was significantly declined in patients compared with the controls. MDA was positively correlated with PCO, hs-CRP, Qp/Qs and systolic pulmonary artery pressure. PCO was positively correlated with hs-CRP, fibrinogen, IL-6 and systolic pulmonary artery pressure. Conclusion: Oxidative stress and its association with other markers in children with CHD was established. To the best of our knowledge, this is the first time that PCO has been used as a biomarker in CHD and it may be employed as a new diagnostic biomarker in CHD and in the assessment of its severity.
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    Phenotypes linked to duplication upstream of SOX9: New insights into presentation and diagnosis
    (Karger, 2024) Unal, Edip; Unal, Aysel Tekmenuray; Cayir, Atilla; Cakir, Esra Deniz Papatya; Beyazit, Nurcan; Kolbasi, Baris; Tosun, Busra Gurpinar
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    Phenotypes Linked to Duplication Upstream of SOX9: New Insights Into Presentation and Diagnosis [2]
    (Endocrine Soc, 2025) Unal, Edip; Tekmenuray-Unal, Aysel; Cayir, Atilla; Papatya Cakir, Esra Deniz; Beyazit, Nurcan; Kolbasi, Baris; Gurpinar Tosun, Busra
    Context Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited. Objective To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream of SOX9. Methods We retrospectively analyzed data of 46,XX/SRY-negative individuals with SOX9 upstream duplications. Clinical data were recorded, and genetic etiologies were investigated using karyotyping, fluorescence in situ hybridization (FISH) for SRY analysis, microarray analysis, multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing panels including whole genome sequencing. Results We analyzed 12 individuals with 46,XX karyotype who had heterozygous duplications upstream of SOX9, ranging from 107 to 941 kb. Ages at diagnosis ranged from 0.1 to 55 years. Seven (58%) had testicular/ovotesticular DSD, while 5 (41%) were asymptomatic carriers detected through family screening. There was no significant correlation between duplication size and genital/gonadal phenotype. The duplication was inherited from the father (n = 3) or an asymptomatic mother (n = 2). In one family, a duplication missed by the 300K microarray was detected by MLPA and confirmed with 750K microarray. Conclusion 46,XX individuals with SOX9 upstream duplications may exhibit no symptoms, but thorough family screening is crucial due to the potential inheritance and testicular/ovotesticular DSD risk in subsequent generations. We emphasize the effectiveness of high-resolution microarray analysis (>500K) as the primary diagnostic tool for 46,XX/SRY-negative testicular/ovotesticular DSD individuals, enabling thorough genome-wide assessment of copy number variations and detecting small alterations.
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    Retrospective evaluation of patients diagnosed with central precocious puberty who reached the final height
    (Walter De Gruyter Gmbh, 2024) Yaman, Kadri; Unal, Edip; Bestas, Asli; Karakaya, Amine Aktar; Beyazit, Nurcan; Kolbasi, Baris
    Objectives Central precocious puberty (CPP) is the onset of puberty before the age of 8 in girls and 9 in boys. The primary goal of CPP treatment is control and arrest of puberty development. In this study, it was aimed to determine the factors associated with final height in patients who received gonadotropin-releasing hormone analogs (GnRHa) treatment and reached their final height.Methods From the medical records of the patients, age on admission, bone age (BA), weight-standard deviation score (SDS), height-SDS, BMI-SDS, target height-SDS, basal LH, FSH, E2, age at menarche, and pelvic USG findings were obtained.Results The mean age on admission of the 67 female patients was 7.5 +/- 0.60 years. On admission, 4.5 % of the patients were obese and 19.4 % were overweight. There was no difference between BMI-SDS at admission and after treatment. The mean age at menarche was 11.57 +/- 0.78 years. About 58.2 % of the patients reached the target height, 35.8 % exceeded the target height, and 6 % were below the target height. The mean height-SDS and predicted adult height (PAH) on admission were better in patients who exceeded the target height. It was determined that target height-SDS had a positive effect on delta height-SDS, while BA/CA ratio had a negative effect.Conclusions It was found that GnRHa treatment did not have a negative effect on BMI-SDS. It was shown that 94 % of the patients who received GnRHa treatment reached the target height, and in fact, 35.8 % exceeded the target height. A greater final height may be associated with good height-SDS and PAH values on admission.