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Öğe Evaluation and Treatment Results of Ovarian Cysts in Childhood and Adolescence: A Multicenter, Retrospective Study of 100 Patients(Elsevier Science Inc, 2017) Aydin, Banu Kucukemre; Saka, Nurcin; Bas, Firdevs; Yilmaz, Yasin; Haliloglu, Belma; Guran, Tulay; Turan, SerapStudy Objective: To investigate the characteristics of children with ovarian cysts and evaluate treatment strategies. Design: Retrospective study. Setting: Eight pediatric endocrinology clinics, Turkey. Participants: A total of 100 children and adolescents with ovarian cysts. Interventions: Patient data collected via retrospective chart review. Patients were stratified according to age into 4 groups (newborns, 1-12 months, 1-8 years, and 8-18 years). Main Outcome Measures: Special emphasis was given to torsion and tumor cases, concomitant diseases, treatment modalities, and problems during follow-up. Results: Most newborns and infants were asymptomatic with the cysts being discovered incidentally; in girls ages 1-8, symptoms were common, including breast budding (47.1%, 16 of 34) and vaginal bleeding (29.4%, 10 of 34). Girls older than 8 years mostly presented with abdominal pain (31.6%, 12 of 38) and menstrual irregularity (21.1%, 8 of 38). Most of our patients were diagnosed with a simple ovarian cyst, but 9 patients were found to have ovarian tumors. Ovarian torsion was detected in 7 patients; 5 with large and 2 with small cysts (! 20 mm). Two patients had central precocious puberty (CPP) at presentation and 5 patients developed CPP during follow-up. The surgical intervention rate was high (38%, 38 of 100), but was associated with earlier treatment year, and this association remained significant after adjusting for confounders (P = .035). Conclusion: Most girls have simple cysts, which have a favorable prognosis without intervention; however, there might be coexisting pathologies or complications such as tumors, torsion, and CPP; hence these patients should be evaluated accordingly and treated with a multidisciplinary approach.Öğe Evaluation of Adrenomedullary Function in Patients with Congenital Adrenal Hyperplasia(Karger, 2009) Tutunculer, Filiz; Saka, Nurcin; Arkaya, Selda Can; Abbasoglu, Semra; Bas, FirdevsBackground/Aims: Congenital adrenal hyperplasia (CAH) is characterized by adrenal insufficiency with or without salt wasting. It is also accompanied by adrenomedullary hypofunction. The aim of the present study was to investigate adrenomedullary function in patients with CAH due to 21-hydroxylase and 11 beta-hydroxylase deficiencies and in age-matched normal subjects. Methods: We measured plasma catecholamines (epinephrine and norepinephrine) and urine metanephrine in 44 patients with CAH, 32 due to 21-hydroxylase deficiency (17 patients with the salt-wasting form and 15 patients with the simple virilizing form), and 12 due to 11 beta-hydroxylase deficiency, and in 25 healthy controls. Results: Plasma epinephrine and urine metanephrine levels were significantly higher in the controls than in patients with CAH (p = 0.02 and p < 0.001, respectively). Plasma norepinephrine levels were significantly lower in the controls than in patients with CAH (p < 0.001). Interestingly, patients with the salt-wasting form had lower norepinephrine levels in comparison to the other subgroups of CAH. Conclusion: Despite the fact that CAH patients have insufficient epinephrine secretion, these patients have the ability to increase compensatory norepinephrine. However, this increase is much lower in patients with the salt-wasting form. These findings need to be confirmed by other studies. Copyright (C) 2009 S. Karger AG, BaselÖğe Evaluation of adrenomedullary function in patients with congenital adrenal hyperplasia (CAH)(Karger, 2006) Tutunculer, Filiz; Saka, Nurcin; Can, Selda Arkaya; Abbasoglu, Semra; Bas, Firdevs; Gunoz, Hulya[Abstract Not Available]Öğe The exon 3 deleted/full length growth hormone receptor polymorphism and response to GH therapy in GH deficiency and Turner syndrome: a multicenter study(Karger, 2009) Darendeliler, Feyza F.; Bas, Firdevs; Bozkurt, Nilufer; Uzunhan, Ozan; Aycan, Zehra; Cetinkaya, Ergun; Berberoglu, Merih[Abstract Not Available]Öğe The Exon 3-Deleted/Full-Length Growth Hormone Receptor Polymorphism and Response to Growth Hormone Therapy in Growth Hormone Deficiency and Turner Syndrome: A Multicenter Study(Karger, 2012) Bas, Firdevs; Darendeliler, Feyza; Aycan, Zehra; Cetinkaya, Ergun; Berberoglu, Merih; Siklar, Zeynep; Ocal, GonulBackground/Aim: The exon 3-deleted/full-length (d3/fl) growth hormone (GH) receptor (GHR) polymorphism has been associated with responsiveness to GH therapy in some diagnostic groups. However, there are still controversies on this issue. To evaluate the effect of the GHR exon 3 polymorphism on growth after 1 and 2 years of GH therapy in Turkish patients with GH deficiency (GHD) and Turner's syndrome (TS) and the distribution of GHR exon 3 isoforms. Materials and Methods: 218 patients with GHD (125 males/93 females) and 43 patients with TS were included in the study. The control group included 477 healthy adults aged from 18 to 57 years (54 females/423 males). Anthropometric parameters and insulin-like growth factor (IGF)-1 and IGF binding protein (IGFBP)-3 were evaluated annually. GHR isoforms were studied using simple multiplex PCR. Height and body mass index were expressed as standard deviation score (SDS). Results: There were no differences among TS, GHD and healthy adults regarding the distribution of GHR exon 3 isoforms (fl/fl, fl/d3 and d3/d3). There was a significant increase in height SDS in both diagnostic groups on GH therapy; however, there were neither differences in height SDS and Delta height velocity between fl/fl, fl/d3 and d3/d3 groups nor a correlation between the distribution of GHR exon 3 isoforms and change in IGF-1 SDS and IGFBP-3 SDS levels on GH therapy in either of the diagnostic groups. There was also no gender difference in GHR isoforms in healthy adults. Conclusion: The results suggest that responsiveness to GH therapy does not depend on the exon 3 GHR genotypes in GHD and TS patients. Copyright (C) 2012 S. Karger AG, BaselÖğe Nationwide Hypophosphatemic Rickets Study(Karger, 2018) Siklar, Zeynep; Turan, Serap; Bereket, Abdullah; Abaci, Ayhan; Bas, Firdevs; Demir, Korcan; Guran, Tulay[Abstract Not Available]Öğe Nationwide Turkish Cohort Study of Hypophosphatemic Rickets(Galenos Yayincilik, 2020) Siklar, Zeynep; Turan, Serap; Bereket, Abdullah; Bas, Firdevs; Guran, Tulay; Akberzade, Azad; Abaci, AyhanObjective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options. Methods: Here we present nationwide initial and follow-up data on HR. Results: From 24 centers, 166 patients were included in the study. Genetic analysis (n = 75) showed PHEX mutation in 80% of patients. The mean follow-up period was 6.7 +/- 2.4 years. During the first 3-years of treatment (n = 91), mild increase in phosphate, decrease in alkaline phosphatase and elevation in parathyroid hormone (PTH) levels were detected. The height standard deviation scores were -2.38, -2.77, -2.72, -2.47 at initial, 1st, 2nd and 3rd year of treatment, respectively (p > 0.05). On follow-up 36% of the patients showed complete or significant improvement in leg deformities and these patients had similar phosphate levels at presentation with better levels in 1st and 2nd years of treatment; even the treatment doses of phosphate were similar. Furthermore, 27 patients developed nephrocalcinosis (NC), the patients showed no difference in biochemical differences at presentation and follow-up, but 3rd year Pill was higher. However, higher treatment doses of phosphate and calcitriol were Found in the NC group. Conclusion: HR treatment and follow-up is challenging and our results showed higher treatment doses were associated with NC without any change in serum phosphate levels, suggesting that giving higher doses led to increased phosphaturia, probably through stimulation of fibroblast growth factor 23. However, higher calcitriol doses could improve bone deformities. Safer and more efficacious therapies are needed.