Yazar "Darendeliler, Feyza" seçeneğine göre listele

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    Central Precocious Puberty in Boys; Diagnosis, Treatment and Follow-up: A Nation-Wide Study
    (Karger, 2023) Gunes, Sevinc Odabasi; Sakar, Merve; Sahin, Nursel Muratoglu; Karaguzel, Gulay; Cimbek, Emine Ayca; Darendeliler, Feyza; Sarban, Ezgi
    [Abstract Not Availabe]
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    Genotype, phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type IA (VDDR1a): A nationwide multicentre retrospective cross-sectional study
    (Karger, 2022) Cayir, Atilla; Demirbilek, Huseyin; Turkyilmaz, Ayberk; Turan, Serap; Bereket, Abdullah; Darendeliler, Feyza; Ozbek, Mehmet Nuri
    [Abstract Not Availabe]
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    Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group
    (Galenos Yayincilik, 2015) Darendeliler, Feyza; Yesilkaya, Ediz; Bereket, Abdullah; Bas, Firdevs; Bundak, Ruveyde; Sari, Erkan; Aydin, Banu Kucukemre
    Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients.
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    Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study
    (Springer, 2015) Bas, Firdevs; Uyguner, Z. Oya; Darendeliler, Feyza; Aycan, Zehra; Cetinkaya, Ergun; Berberoglu, Merih; Siklar, Zeynep
    To investigate the specific mutations in PROP1, POU1F1, LHX3, and HESX1 genes in patients with combined pituitary hormone deficiency (CPHD) in Turkey. Seventy-six patients with CPHD were included in this study. Based on clinical, hormonal, and neuro-radiological data, relevant transcription factor genes were evaluated by Sanger sequencing and multiplex ligation-dependent probe amplification. Total frequency of mutations was 30.9 % in patients with CPHD. Frequency was significantly higher in familial patients (p = 0.001). Three different types of mutations in PROP1 gene (complete gene deletion, c.301-302delAG, a novel mutation; IVS1+2T > G) were found in 12 unrelated patients (21.8 %). Mutations in PROP1 gene were markedly higher in familial than in sporadic cases (58.8 vs. 5.3 %, p < 0.001). Homozygous complete gene deletion was the most common mutation in PROP1 gene (8/12) and was identified in six familial patients. Four different homozygous mutations [p.Q4X, novel mutations; exons 1-2 deletion, p.V153F, p.I244S] were detected in POU1F1 gene. Central precocious puberty was firstly observed in a sporadic-male patient with homozygous POU1F1 (p.I244S) mutation. A homozygous mutation in HESX1 gene (p.R160H) was detected in one patient. This study is the first to investigate specific mutations in CPHD patients in Turkey. Complete deletion in PROP1 gene was the most common mutation encountered in patients with CPHD. We believe that the results of this study will contribute to the establishment of genetic screening strategies in Turkey, as well as to the studies on phenotype-genotype correlations and early diagnosis of CPHD patients.