Browsing by Author "Ucakturk, Seyit Ahmet"

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    Genotype Of Congenital Adrenal Hyperplasia Patients With Testicular Adrenal Rest Tumor
    (2022) Aycan, Zehra; Keskin, Meliksah; Lafci, Naz Guleray; Savas-Erdeve, Senay; Bas, Firdevs; Poyrazoglu, Sukran; Ozturk, Pinar; Parlak, Mesut; Ercan, Oya; Guran, Tulay; Hatipoglu, Nihal; Ucakturk, Seyit Ahmet; Catli, Gonul; Akyurek, Nesibe; Onder, Asan; Kilinc, Suna; Cetinkaya, Semra; 36343887
    Testicular adrenal rest tumor (TART) is one of the important complications that can cause infertility in male patients with congenital adrenal hyperplasia (CAH) and should therefore be diagnosed and treated at an early age. The factors that result in TART in CAH have not been completely understood. The aim of this study is to evaluate the genotype-phenotype correlation in CAH patients with TART.Method: Among 230 malepatients with CAH who were followed upwith regular scrotal ultrasonography in 11 different centers in Turkey, 40 patients who developed TARTand whose CAH diagnosis was confirmed by genetic testing were included in this study. Different approaches and methods were used for genotype analysis in this multicenter study. A few centers first screened the patients for the ten most common mutations in CYP21A2 and performed Sanger sequencing for the remaining regions only if these prior results were inconclusive while the majority of the departments adopted Sanger sequencing for the whole coding regions and exon-intron boundaries as the primary molecular diagnostic approach for patients with either CYP21A2 orCYP11B1 deficiency. The age of CAH diagnosis and TART diagnosis, type of CAH, and identified mutations were recorded.Results: TART was detected in 17.4% of the cohort [24 patients with salt-wasting (SW) type, four simple virilizing type, and one with nonclassical type with 21-hydroxylase (CYP21A2) deficiency and 11 patients with 11-beta hydroxylase (CYP11B1) deficiency]. The youngest patients with TART presenting with CYP11B1 and CYP21A2 deficiency were of 2 and 4 years, respectively. Eight different pathogenic variants in CYP21A2were identified. The most common genotypes were c.293-13C>G/c.293-13C>G (31%) followed by c.955C>T/ c.955C>T(27.6%) and c.1069C>T/c.1069C>T (17.2%). Seven different pathogenic variants were identified in CYP11B1. The most common mutation in CYP11B1 in our study was c.896T>C (p.Leu299Pro).Conclusion: We found that 83% TART patients were affected with SW typeCYP21A2 deficiency,and the frequent mutations detected were c.955C>T (p.Gln319Ter), c.293-13C>G in CYP21A2 and c.896T>C (p.Leu299Pro) inCYP11B1. Patients with CYP11B1 deficiency may develop TART at an earlier age. This study that examined the genotype-phenotype correlation in TART may benefit further investigations in larger series.
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    Triglycerides/high-density lipoprotein cholesterol is a predictor similar to the triglyceride-glucose index for the diagnosis of metabolic syndrome using International Diabetes Federation criteria of insulin resistance in obese adolescents: a cross-sectional study
    (2020) Cin, Nazli Nur Asian; Yardimci, Hulya; Koc, Nevra; Ucakturk, Seyit Ahmet; Ok, Mehtap Akcil; 32447329; AAZ-8170-2020
    Objectives: Metabolic syndrome (MS) is a fatal endocrinopathy that begins with insulin resistance (IR) and causes abdominal obesity, glucose intolerance, or systemic disorders. This study was aimed to determine the cut-off values for the triglyceride (TG)/high-density lipoprotein cholesterol (TG/HDL-C) ratio, the TG glucose (TyG) index and homeostasis model assessment (HOMA-IR) for the diagnosis of MS in obese adolescents, and to compare which of the three indexes would offer a more accurate approach to diagnosis. Methods: The study population comprised 1,171 obese adolescents (639 females and 532 males aged 10-16 years, Body Mass Index (BMI)>=95th percentile). Indirect measures of IR screening for MS were the TG/HDL ratio, TyG index, and HOMA-IR. The cut-off values of the TG/HDL ratio, TyG index, and HOMA-IR were obtained from receiver operation characteristic (ROC) curves. Results: HOMA-IR had a significant positive correlation with the TyG index (r=0.352, p<0.001) and TG/HDL-C (r=0.291, p<.001). The TyG index and TG/HDL-C showed a strong positive correlation (r=0.901, p<0.001). The TG/HDL-C ratio showed a larger ROC Area under Curve (AUC=0.849) than HOMA-IR index (AUC=0.689), but as a predictor similar to TyG index (AUC=0.833) when screening for MS. The cut-off values for MS were as follows: TG/HDL-C ratio>2.16 (sensitivity: 88.8%; specificity: 49.7%), TyG index>8.50 (sensitivity: 85.6%; specificity: 57.0%) and HOMA-IR>2.52 (sensitivity: 83.2%; specificity: 40.4%). Conclusions: Both the TyG index and TG/HDL-C ratio are better markers than HOMA-IR to determine the risk of metabolic syndrome according to IDF criteria. Besides, the TyG index and TG/HDL-C ratio have similar differentiating powers to determine this risk in obese Turkish adolescents.
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    Two Patients with Resistance to Thyroid Hormones
    (2016) Cakir, Esra Deniz Papatya; Gorukmez, Orhan; Ucakturk, Seyit Ahmet; Kibar, Ayse Esin; Sangun, Ozlem; Erdem, Sevcan; Ozen, Samim