Yazar "Korkmaz, Ozlem" seçeneğine göre listele
Listeleniyor 1 - 15 / 15
Sayfa Başına Sonuç
Sıralama seçenekleri
Öğe Bannayan-Riley-Ruvalcaba Syndrome in a Case Evaluated Due to Multinodular Goiter(Galenos Yayincilik, 2018) Korkmaz, Ozlem; Ozen, Samim; Onay, Huseyin; Celik, Ahmet; Ertan, Yesim; Goksen, Damla; Darcan, SukranBannayan-Riley-Ruvalcaba syndrome (BRRS) is characterized by macrocephaly, pigmented macules on the glans penis and benign mesodermal hamartomas. 9.6-year-old boy was referred to the pediatric surgeon following an observation of a subcutaneous lipomatous lesion and numerous nodules in the thyroid gland via ultrasonography performed due to swelling in the neck first noticed approximately 3 months previously. Thyroid ultrasonography revealed numerous nodules with distinct margins in both lobes of the thyroid gland, some exhibiting calcification and others hypoechoic areas, and a total thyroidectomy was performed due to a suspicion of malignity. After surgery, the patient was referred to the Pediatric Endocrinology Department. On physical examination, his weight was 30 kg [standard deviation score (SDS): -0.38], height 140 cm (SDS: 0.71) and head circumference 59.5 cm (SDS: +3.21). Pubic hair was Tanner stage 2, bilateral testes 3+3 mL palpable. There was multiple hyperpigmented lesions on the penile skin. His past medical history revealed that pubic hair development was reported at the age of 8 years. Laboratory examinations revealed a 17-OH progesterone level of 4.8 ng/mL, bone age compatible with 8 years. P.V281L heterozygous mutation was determined via CYP21A2 mutation screening performed for non-classic congenital adrenal hyperplasia. BRRS was primarily suspected in this case of macrocephaly, lipomatous lesions and pigmented macular lesions on the penis. Heterozygous p.C136R mutation was determined via PTEN mutation scanning.Öğe Clinical Characteristics and Follow-up Findings of the Cases Pediatric Hashimoto's Thyroiditis- a Single Centre Experience(Duzce Univ, 2019) Korkmaz, Ozlem; Ozen, Samim; Goksen, Damla; Darcan, SukranObjective: The aim of this study was to evaluate the clinical and laboratory characteristics at application and during progression of Hashimoto's thyroiditis at children and adolescents. Methods: The clinical characteristics, thyroid function tests, thyroid autoantibodies, thyroid ultrasound datas and drug treatments of 83 patients with Hashimoto's thyroiditis were retrospectively evaluated. Results: Patients' mean age at time of diagnosis were determinated 11.3 +/- 3.0 years. The male to female ratio was 3.3:1, and 51.8% of patients had a family history of thyroid disease. Mean weight SDS was 0.3 +/- 1.3, mean height SDS was 0.4 +/- 2.8 and mean body mass index SDS was 0.4 +/- 1.2. The principal symptom at time of gripe was goiter, in 27.7% of patients, and 34.9% of cases were identified incidentally. At physical examination, goiter was determined in 68.7% of patients. According to the thyroid function test results, 46.8% of patients had euthyroidism, 33.7% subclinical hypothyroidism, 17.7% hypothyroidism, 2.5% hyperthyroidism and 2.5% subclinical hyperthyroidism. Anti-TPO and anti-Tg antibody levels of the group started on L-thyroxine therapy were higher than those in the untreated patients (p = 0.01 and p = 0.051, respectively). L-thyroxine was initiated in 13 (35.1%) of the 37 patients who were initially euthyroid and not receiving treatment at presentation, due to subclinical or over hypothyroidism being observed at follow-up. Conclusion: Thyroid functions of pediatric patients with Hashimoto's thyroiditis should be followed up at regular intervals, even if they are initially euthyroid, since hypothyroidism may develop in a significant number of cases in the follow-up period.Öğe Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height(Walter De Gruyter Gmbh, 2017) Savas-Erdeve, Senay; Cetinkaya, Semra; Abali, Zehra Yavas; Poyrazoglu, Sukran; Bas, Firdevs; Berberoglu, Merih; Siklar, Zeynep; Korkmaz, Ozlem; Bulus, Derya; Akbas, Emine Demet; Guran, Tulay; Bober, Ece; Akin, Onur; Yilmaz, Gulay Can; Aycan, ZehraBackground: The clinical, laboratory, genetic properties and final height of a large cohort of patients with nonclassical 21-hydroxylase deficiency (NC21OHD) in Turkey were analyzed. Methods: This multicenter, nationwide web-based study collected data. Results: The mean age was 9.79 +/- 4.35 years (229 girls, 29 boys). The most common symptoms were premature pubarche (54.6%) and hirsutism (28.6%). The peak cortisol was found below 18 mu g/dL in three (15.45%) patients. A mutation was detected in the CYP21A2 gene of 182 (87.5%) patients. The most common mutation was V281L. Final height in female patients who were diagnosed and treated before attaining final height or near final height was found to be shorter than the final height in female patients who were diagnosed after attaining final height or near final height. Conclusions: The final height of the patients who were treated during childhood was found to be shorter than the final height of patients during the adolescent period.Öğe The Effect of Polychlorinobiphenyls on Premature Puberty in Girls(Karger, 2018) Guven, Raziye Burcu; Ozen, Samim; Goksen, Damla; Korkmaz, Ozlem; Darcan, SukranÖğe Effectiveness of Continuous Subcutaneous Insulin Infusion Pump Therapy During Five Years of Treatment on Metabolic Control in Children and Adolescents with Type 1 Diabetes Mellitus(Galenos Yayincilik, 2018) Korkmaz, Ozlem; Demir, Gunay; Cetin, Hafize; Mecidov, Ilkin; Altinok, Yasemin Atik; Ozen, Samim; Darcan, Sukran; Goksen, DamlaObjective: To compare continuous subcutaneous insulin infusion (CSII) therapy with multiple daily insulin (MDI) therapy on metabolic control in children and adolescents with type I diabetes mellitus (T1DM) over the long term. Methods: Fifty-two T1DM patients treated with CSII and monitored for at least one year prior to and at least five years following CSII were included. Thirty-eight age and sex-matched MDI controls with a 5-year follow up were recruited. Results: Mean age of the subjects, duration of diabetes and CSII therapy were 17.0 +/- 4.8 years, 10.7 +/- 2.8 years and 7.7 +/- 1.5 years respectively. Mean hemoglobin A1c (HbA I c) in the year prior to CSII, during the first year of treatment and after 5 years of CSII were 7.3 +/- 1 % (56 mmol/mol), 7.0 +/- 0.7% (53 mmol/mol) and 7.8 +/- 1.3 % (62 mmol/mol) respectively. Initial and 5-year mean HbA1C levels of controls were 7.9 +/- 1.08 % and 8.6 +/- 1.8 %. Mean HbA1c values were significantly lower in those receiving CSII therapy throughout follow-up. Basal and total insulin doses were significantly lower in the CSII group at all times. HbA1c was compared between subjects by age (0-5, 6-11 and 12-18 years) with no significant difference between them. Conclusion: Although CSII mean HbA1c values exceeded accepted good metabolic control limits after 5 years, CSII produces better HbA1c control at all times and in all age groups compared to MDI.Öğe EFFECTIVENESS OF CONTINUOUS SUBCUTANEOUS INSULIN INFUSION PUMP THERAPY DURING FIVE YEARS OF TREATMENT ON METABOLIC CONTROL IN CHILDREN AND ADOLESCENTS WITH TYPE 1 DIABETES MELLITUS(Karger, 2017) Korkmaz, Ozlem; Demir, Gunay; Cetin, Hafize; Mecidov, Ilkin; Ozen, Samim; Darcan, Sukran; Goksen, DamlaÖğe Five cases with Laron syndrome: Clinical and molecular evaluation(Dr Behcet Uz Cocuk Hastaliklari Ve Cerrahisi, 2016) Korkmaz, Ozlem; Tosyali, Merve; Berdeli, Afig; Goksen, Damla; Darcan, SukranLaron Syndrome is defined as primary growth hormone resistance or insensitivity. Our aim is to discuss the clinical, laboratory findings and growth hormone receptor gene mutation analysis of the Laron Syndrome cases. 5 patients'(two girls, 3 boys) pretreatment height standard deviation score (SDS), annual growth rates, growth hormone, and IGF-1, IGFBP3 levels, age at initial treatment age, and also the height SDS, and annual growth rates, at first, second, and third years of the treatment, the doses of the targeted drugs which can be used were evaluated to find the effectiveness of the treatment. Growth hormone receptor gene mutations were evaluated. The mean age was 3.0+/-2.7 years, height SDS was -5.06+/-0.7 and target height SDS was -0.72+/-0.95. Pretreatment annual growth rate was 3.5+/-1.7 cm (1.8-6.0). Baseline growth hormone levels were over 40 pg/ml in all patients. Mean baseline IGF, mean IGF response to IGF generation test values were 9.7+/-9.9 ng/ml, and 10.7+/-9.8 ng/ml, respectively. Due to the difficulties to get the recombinant IGF treatmen, we could start the therapy at the mean age of 4.06+/-2.6 years. Usually the doses of the drugs used per year were under the targeted doses for the patients. The average annual growth rates were 3.73 cm/year, 4,24 cm/year, 3,55 cm/year, at 1st, second and third years, respectivelly. Growth hormone receptor gene analysis revealed homozygote missense c. 1630 A>C(p. I544L) mutation in one patient and; c. 1419 C>T(p. S473S) polymorphism in two siblings and c. 1681 C>A(p. P561T) homozygous mutation in one patient, c. 629 T>G(p. V210G) ve c. 1567 A>C(p. I526L) compound heterozygous mutation in one patient. As a result, it has been demonstrated that cases with Laron syndrome patients do not give adequate clinical response to recombinant IGF treatment.Öğe Is anti-Mullerian hormone an indicator of potential polycystic ovary syndrome in prepubertal girls with simple obesity?(Turkish J Pediatrics, 2016) Korkmaz, Ozlem; Goksen, Damla; Ozen, Samim; Darcan, SukranThe aim of this anti-Mullerian hormone (AMH) levels in prepubertal obese girls are a predictive marker for polycystic ovary syndrome (PCOS) and to investigate the relationship between insulin resistance and AMH. Sixty girls with premature pubarche or obesity and 20 healthy controls between the ages of 6-9 were enrolled. Of the patients, 22 (36.7%) were in the obese group (Group 1), 28 (46.7%) in the early pubarche group (Group 2) and 10 (16.6%) in the early pubarche + obese group (Group 3). Comparison of the subjects' fasting insulin and homeostatic model assessment insulin resistance (HOMA-IR) demonstrated significantly higher values for group 1 compared to group 2 (p=0.001 and 0.001) and, likewise, significantly higher values for group 3 compared to group 2. There was no significant differences between all groups for AMH levels. AMH levels were not significantly different in the obese girls compared to the other groups. There was also no relationship between AMH and insulin resistance in any of the groups. Further studies, however, are needed due the limited number of subjects in this study and in the absence of adequate relevant data.Öğe Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children(Galenos Yayincilik, 2021) Goksen, Damla; Yesilkaya, Ediz; Ozen, Samim; Kor, Yilmaz; Eren, Erdal; Korkmaz, Ozlem; Berberoglu, MerihObjective: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey. Methods: Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study. Results: Seventy-seven (45.6%) female and 92 male cases with a mean age of 8.18 +/- 5.05 years at diagnosis were included. 52.7% of the cases were diagnosed with monogenic diabetes by random blood glucose measurement. The reason for genetic analysis in 95 (56.2%) of cases was having a family member diagnosed with diabetes under the age of 25. At the time of diagnosis, ketone was detected in urine in 16.6% of the cases. Mean hemoglobin A1c on admission, fasting blood glucose, fasting insulin, and c-peptide values were 7.3 +/- 2.1%, 184.9 +/- 128.9 mg/dL, 9.4 +/- 22.9 IU/L, 1.36 +/- 1.1 and ng/L respectively. GCK-MODY was found in 100 (59.2%), HNF1A-MODY in 31 (18.3%), and variants in ABCC8 in 6 (3.6%), KCNJ11 in 5 (3%), HNF4A in 2 (1.2%), and HNF1B in 2 (1.2%). Conclusion: Recent studies have indicated HNF1A-MODY is the most frequent of all the MODY-monogenic diabetes cases in the literature (50%), while GCK-MODY is the second most frequent (32%). In contrast to these reports, in our study, the most common form was GCK-MODY while less than 20% of cases were diagnosed with HNF1A-MODY.Öğe A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance(Springer International Publishing Ag, 2019) Korkmaz, Ozlem; Ozen, Samim; Ozdemir, Taha Resid; Goksen, Damla; Darcan, SukranThyroid hormone receptor alpha (THRA) gene mutation is a thyroid hormone resistance syndrome characterized by near-normal thyroid function tests and tissue-specific hypothyroidism. In this case study, we report a novel de novo p.G291S heterozygous mutation in the THRA gene was detected at mutation analysis. A 4-year-old male patient was admitted due to short stature, motor-mental retardation, and constipation. At physical examination, coarse facial appearance, eyelid edema, pallor, and umbilical hernia were observed. Primary thyroid hormone resistance should be considered in patients with phenotypically hypothyroid features. Laboratory analysis found moderate elevation in free triiodothyronine (T3) levels, normochromic normocytic anemia, and elevated creatine kinase levels. In conclusion, THRA gene mutation should be considered in patients with clinical hypothyroid findings and increased/moderately elevated free T3, decreased/ normal free thyroxine, normal thyroid-stimulating hormone levels, and increased muscle enzymes.Öğe Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia: A Novel AMH Receptor Mutation(Karger, 2016) Korkmaz, Ozlem; Ozen, Samim; Ozcan, Nurhan; Bayindir, Petek; Sen, Sait; Onay, Huseyin; Goksen, Damla; Avanoglu, Ali; Özkınay, Ferda; Darcan, SukranÖğe Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Mullerian Hormone Receptor Mutation(Galenos Yayincilik, 2017) Korkmaz, Ozlem; Ozen, Samim; Ozcan, Nurhan; Bayindir, Petek; Sen, Sait; Onay, Huseyin; Goksen, Damla; Avanoglu, Ali; Özkınay, Ferda; Darcan, SukranPersistent Mullerian duct syndrome is the result of either anti-Mullerian hormone (AMH) deficiency or AMH receptor resistance. A long tubular structure was palpated during the physical examination of a 13-month-old male patient who had presented with bilateral undescended testes. At physical examination, the testes were not palpable. The patient's karyotype was XY, SRY (+), and his AMH level was 22 ng/mol. Structures suggestive of ovaries, a uterus, and fallopian tubes were observed during the laparoscopic examination of the ectopic testis. AMHR2 gene sequence analysis performed with a preliminary diagnosis of AMH receptor resistance revealed a previously unreported homozygous c.24G > A (p. W8X) mutation. The patient was assessed as a case of AMH receptor resistance. Orchiopexy was performed.Öğe Psychiatric Approaches for Disorders of Sex Development: Experience of a Multidisciplinary Team(Galenos Yayincilik, 2013) Ozbaran, Burcu; Ozen, Samim; Goksen, Damla; Korkmaz, Ozlem; Onay, Huseyin; Özkınay, Ferda; Cogulu, Ozgur; Erermis, Serpil; Kose, Sezen; Avanoglu, Ali; Ulman, Ibrahim; Darcan, SukranObjective: Disorders of sex development (DSD) are a group of congenital medical conditions that affect life as a whole. In this study, we aimed to reflect the experience of a multidisciplinary team in the clinical/psychiatric follow-up of a group of children and adolescents with DSD. Methods: The study group consisted of 51 patients diagnosed with DSD. The Kiddie-Schedule for Affective Disorders and Schizophrenia, Wechsler Intelligence Scale for Children-Revised, Draw a Person Test and Children's Apperception Test, and the Clinical Global Impression Scale (CGIS) were used for psychiatric evaluations. Results: The mean age of the patients was 7.8 years (median: 7.8; min: 1.0; max: 18.0). Genetic evaluation showed 46, XX configuration in 15 patients (29.4%) and 46, XY in 35 (68.6%). One patient (2.0%) was diagnosed to have a sex chromosome disorder. Forty patients (78.4%) had no problems with their given gender identity and gender role. Thirty-four (66.7%) patients had normal intellectual capacity. Twenty-eight (54.9%) patients did not have any psychiatric problem. Depression, anxiety disorders, attention deficit/hyperactivity disorder, and adjustment disorders were the common diagnoses. The mean score of symptom severity on CGIS-severity-baseline was 6.15 +/- 0.68 and after one year, it was 1.46 +/- 0.51 (Z=-3.236 p=0.001). The mean score of CGI-Improvement was 1.23 +/- 0.44. Conclusion: It is important to identify and treat the psychiatric disorders encountered in patients with DSD. A psychiatrist needs to be included in the professional team following these patients. Examination and observation results need to be shared by holding periodic team meetings to establish a wholesome point of view for every unique child.Öğe Psychiatric Approaches for Disorders of Sex Development: Experience of a Multidisciplinary Team(Galenos Yayincilik, 2013) Ozbaran, Burcu; Ozen, Samim; Goksen, Damla; Korkmaz, Ozlem; Onay, Huseyin; Özkınay, Ferda; Cogulu, Ozgur; Erermis, Serpil; Kose, Sezen; Avanoglu, Ali; Ulman, Ibrahim; Darcan, SukranObjective: Disorders of sex development (DSD) are a group of congenital medical conditions that affect life as a whole. In this study, we aimed to reflect the experience of a multidisciplinary team in the clinical/psychiatric follow-up of a group of children and adolescents with DSD. Methods: The study group consisted of 51 patients diagnosed with DSD. The Kiddie-Schedule for Affective Disorders and Schizophrenia, Wechsler Intelligence Scale for Children-Revised, Draw a Person Test and Children's Apperception Test, and the Clinical Global Impression Scale (CGIS) were used for psychiatric evaluations. Results: The mean age of the patients was 7.8 years (median: 7.8; min: 1.0; max: 18.0). Genetic evaluation showed 46, XX configuration in 15 patients (29.4%) and 46, XY in 35 (68.6%). One patient (2.0%) was diagnosed to have a sex chromosome disorder. Forty patients (78.4%) had no problems with their given gender identity and gender role. Thirty-four (66.7%) patients had normal intellectual capacity. Twenty-eight (54.9%) patients did not have any psychiatric problem. Depression, anxiety disorders, attention deficit/hyperactivity disorder, and adjustment disorders were the common diagnoses. The mean score of symptom severity on CGIS-severity-baseline was 6.15 +/- 0.68 and after one year, it was 1.46 +/- 0.51 (Z=-3.236 p=0.001). The mean score of CGI-Improvement was 1.23 +/- 0.44. Conclusion: It is important to identify and treat the psychiatric disorders encountered in patients with DSD. A psychiatrist needs to be included in the professional team following these patients. Examination and observation results need to be shared by holding periodic team meetings to establish a wholesome point of view for every unique child.Öğe The Risk Factors of Puberty Precocious in Girls: Is the Condition Related with Polychlorobiphenyls?(Galenos Yayincilik, 2021) Bilgin, Raziye Burcu Guven; Ozen, Samim; Goksen, Ruhsar Damla; Korkmaz, Ozlem; Darcan, SukranAim: Our aim was investigate the effect of polychlorobifenyls (PCBs) and other factors on puberty precocious (PP) in girls were diagnosed with idiopatic PP and premature thelarche (PT). Materials and Methods: The study group included 50 girls aged between 2-8 years old with PP and PT. The control group included 50 healthy girls with same age range and no puberty findings. Data was collected in terms of breast and pubic hair stages, weight, height, body mass index (BMI), standard deviation scores (SDSs), location of residence, gestational age and maternal age at menarche (AAM). Twenty-one PCB levels were evaluated in serum and urine. One-Way ANOVA test was used for comparison between the groups. For subgroup analysis, Mann-Whitney U test, multiple regression analysis were used. Results: The mean age of the study and control groups were 6.70 +/- 1.20 and 5.23 +/- 1.25 years, respectively. The studied PCBs were not detectable found in either the study or the control groups. The BMI SDSs of the patients in study and healthy groups were 0.49 +/- 1.09 and-0.12 +/- 1.28, respectively (p=0.1). Weight SDSs in the study group were found to be significantly higher than healthy group (0.72 +/- 1.35 vs-0.20 +/- 1.47, p=0.008 Maternal AAM of the patients in study group was significantly lower (p=0.006). In study group 98% of the patients were living in down town and district, whereas this ratio was 92% in control group (p=0.024). In study group 29 patients (58%) were diagnosed with PT. Basal follicle stimulating hormone and estradiol levels, bone age and uterine longest axis dimensions results were significantly different. Conclusion: We found that studied PCBs don't influence on PP in girls aged between 2-8 years old. However, weight SDS, maternal AAM, location of residence of the patients had a significant role on PP in this patient population.
