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    Growth curves for Turkish Girls with Turner Syndrome Results of the Turkish Turner Syndrome Study Group
    (Journal of Clinical Research in Pediatric Endocrinology, 2015) Darendeliler, Feyza; Yeşilkaya, Ediz; Bereket, Abdullah; Baş, Firdevs
    Turner syndrome (TS) is a common chromosomal disorder occurring in 1:2500 female live births. The most common presenting symptom in girls with TS is short stature which is mild during early childhood but becomes more notable with age. Untreated females are reported to be approximately 18-20 cm shorter than the general population (1,2,3,4). Growth curves are widely used in pediatric practice and are very important tools for the evaluation of child health (5,6,7,8,9). The curves proposed by international health organizations, such as the World Health Organization (10) and the Centers for Disease Control and Prevention (11), provide growth evaluation in children belonging to different ethnicities and socio-economic conditions. However, children with specific diseases (including TS) and having a specific growth pattern cannot be well assessed with the curves designed for healthy children. Thus, disease-specific growth charts are required for better evaluation of growth and response to growth-promoting therapies in certain diseases.
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    Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants
    (2020) Güran, Tülay; Tezel, Başak; Çakır, Meltem; Akıncı, Ayşehan; Orbak, Zerrin; Keskin, Mehmet; Eklioğlu, Beray; Ozon, Alev; Özbek, Mehmet Nuri; Karagüzel, Gülay; Hatipoğlu, Nihal; Gürbüz, Fatih; Çizmecioğlu, Filiz; Kara, Cengiz; Şimşek, Enver; Baş, Firdevs; Aydın, Murat; Darendeliler, Feyza
    Abstract: Objective: Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) in four Turkish cities in 2017, and in 2018 extended the program, with a slight change in screening strategy, to fourteen cities. To evaluate the performance of the extended study and update previously reported outcomes. Methods: Retrospective, descriptive study. Neonates of ?32 gestational weeks and ?1500 gr birth weight from fourteen cities, born between May-December 2018, were included. Screening protocol included one sample, two-tier testing as applied in the previous pilot study. In the first step, 17?-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at 3-5 days of life. Cases with positive initial screening underwent second tier testing by steroid profiling in DBS using liquid chromatographytandem mass spectrometry to measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol and androstenedione. The babies with a steroid ratio (21-S+17-OHP)/F of ?0.7 (increased from ?0.5 in the earlier pilot study) were referred to pediatric endocrinology clinics for diagnostic assessment. Results: In the evaluated period, 241,083 newborns were screened. 12,321 (5.11%) required second-tier testing and 880 (0.36%) were referred for clinical assessment, twenty of whom were diagnosed with CAH (10 females, 10 males). Sixteen were diagnosed as classical 21-hydroxylase deficiency (21-OHD) CAH (12 with salt-wasting and four with simple virilising CAH), and four cases were identified with 11?-OHD CAH. No case of salt-wasting CAH was missed by neonatal screening (sensitivity was 100%). The incidence of classical 21-OHD and 11?-OHD in the screened population was 1: 15,067 and 1: 60,270, respectively. Conclusion: Turkish neonatal CAH screening effectively led to earlier diagnosis of 21-OHD and 11?-OHD, using steroid profiling as a second-tier test. This will result in improved care of these patients in the future.
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    Turner Syndrome and Associated Problems in Turkish Children A Multicenter Study
    (Journal of Clinical Research in Pediatric Endocrinology, 2015) Yeşilkaya, Ediz; Bereket, Abdullah; Darendeliler, Feyza; Baş, Firdevs
    Turner syndrome (TS) is a genetic disorder characterized by total or partial absence of one sex chromosome (1). It is one of the most common chromosomal disorder with an incidence of 1:2500 female live births (2,3). The most prevalent karyotype is 45,X, followed by mosaic patterns. TS is associated with several morbidities that increase with age. Although TS causes several multisystem disorders, the most common presentation is usually due to short stature and primary gonadal deficiency. Patients may present with congenital malformations such as horseshoe kidney and coarctation of the aorta. They may also develop diabetes, hypothyroidism, hypertension, hearing loss, osteoporosis and bone fractures (4,5). Timely diagnosis and proper management of associated problems may reduce substantial morbidity and mortality and improve the quality of life in TS patients. Studies based on a large pediatric population which provide data on frequency of associated problems and their distribution among the different karyotypes are scarce (6,7,8). In the present study, we aimed to define the frequency of associated problems in TS patients during childhood and the distribution of these clinical features according to karyotype and age by evaluating 842 patients with TS from 35 centers in Turkey