Browsing by Author "Bitkin, Eda Celebi"

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Autosomal Recessive Hypophosphatemic Rickets Type 2; a Novel Mutation in the Enpp1 Gene
(Turkish J Pediatrics, 2022) Bitkin, Eda Celebi; Aymelek, Huri Sema
Background. Hypophosphatemic rickets (HR) is a rare disease caused by several genetic mutations in factors that cause an increase in fibroblast growth factor 23 (FGF23), and renal phosphate transporters. ENPP1 (ectonucleotide pyrophosphatase / phosphodiesterase 1) mutations cause autosomal recessive inheritance hypophosphatemic rickets type 2. Case. In our study, we present a novel mutation in the ENPP1 gene detected in 4 siblings in a single family. Conclusion. Our findings can be applied to further understand molecular pathogenesis and to establish a correlation between genotype and phenotype for HR.
Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey
(Galenos Yayincilik, 2019) Eren, Erdal; Ergur, Ayca Torel; Isguven, Sukriye Pinar; Bitkin, Eda Celebi; Berberoglu, Merih; Siklar, Zeynep; Tarim, Omer
Objective: We aimed to report the characteristics at admission, diagnosis, treatment, and follow-up of cases of pediatric hyperprolactinemia in a large multicenter study. Methods: We reviewed the records of 233 hyperprolactinemic patients, under 18 years of age, who were followed by different centers. The patients were divided as having microadenomas, macroadenomas, drug-induced hyperprolactinemia and idiopathic hyperprolactinemia. Complaints of the patients, their mode of treatment (medication and/or surgery) and outcomes were evaluated in detail. Results: The mean age of the patients with hyperprolactinemia was 14.5 years, and 88.4% were females. In terms of etiology, microadenomas were observed in 32.6 %, macroadenomas in 27 %, idiopathic hyperprolactinemia in 22.7% and drug-induced hyperprolactinemia in 6.4 %. Other causes of hyperprolactinemia were defined in 11.3%. Common complaints in females (n = 206) were sorted into menstrual irregularities, headaches, galactorrhea, primary or secondary amenorrhea and weight gain, whereas headache, gynecomastia, short stature and blurred vision were common in males (n = 27). Median prolactin levels were 93.15 ng/mL, 241.8 ng/ml, 74.5 ng/mL, 93.2 ng/mL, and 69 ng/mL for microadenomas, macroadenomas, idiopathic hyperprolactinemia, drug-induced hyperprolactinemia, and other causes of hyperprolactinemia, respectively. Of 172 patients with hyperprolactinemia, 77.3 % were treated with cabergoline and 13.4 % with bromocriptine. 20.1 % of the patients with pituitary adenomas underwent pituitary surgery. Conclusion: We present the largest cohort of children and adolescents with hyperprolactinemia in the literature to date. Hyperprolactinemia is more common in females and cabergoline is highly effective and practical to use in adolescents, due to its biweekly dosing. Indications for surgery in pediatric cases need to be revised.
Clinical and Laboratory Characteristics of Hyperprolactinemic Children and Adolescents: National Survey
(Karger, 2017) Eren, Erdal; Ergur, Ayca Torel; Isguven, Sukriye Pinar; Bitkin, Eda Celebi; Berberoglu, Merih; Siklar, Zeynep; Tarim, Omer
Clinical and Laboratory Findings of Paediatric Patients With Brucellosis
(Galenos Yayincilik, 2021) Karaman, Serap; Bitkin, Eda Celebi; Sonmez, Bulent; Basaranoglu, Murat; Karaman, Kamuran; Tuncer, Oguz
Objective: Brucellosis is the most common bacterial zoonotic disease transmitted via unpasteurised milk and dairy products from infected animals. This study aimed to evaluate paediatric patients treated for brucellosis and followed for 2 years. Materials and Methods: The records of 73 patients with childhood brucellosis who had undergone treatment and follow-up for 2 years were retrospectively evaluated. Results: The patient age ranged from 1 to 14 years, with 39 boys (53%) and 34 girls (47%). Fever (94%) was the first common symptom. Other symptoms, in the order of frequency, were myalgia (80%), arthralgia (75%), fatigue (38%) and anorexia (33%). Complications included sacroiliitis (12%), hemophagocytic lymphohistiocytosis (4%), epididymo-orchitis (1.3%), focal abscess (1.3 %) and meningitis (1.3%). Splenomegaly, hepatomegaly and lymphadenopathy (24%, 33% and 5%, respectively) were also reported. Moreover, 18% of the patients had hepatosplenomegaly at initial admission. Dermatological involvement revealed maculopapular rash in 4.1% and petechial rash in 9.6% of patients. Body weight loss was observed in 14% of the cases. In addition, 76.3% and 23.7% of the patients had acute and sub-acute forms, respectively. Conclusion: Brucellosis can display several different clinical presentations. This diversity can lead to diagnostic delay. In settlements where the disease is common, patients with fever and joint pain should be treated early and the disease should be ruled out.
Diagnostic Role of Thyroid Elastography in Pediatric Patients With Hashimoto's Thyroiditis and Graves' Disease: a Prospective Controlled Study
(Elsevier France-editions Scientifiques Medicales Elsevier, 2023) Bitkin, Eda Celebi; Toprak, Nursen
Objective: Hashimoto's thyroiditis and Graves' disease are autoimmune diseases of the thyroid gland, and both diseases are diagnosed with ultrasound findings and autoantibody height. However, ultrasound (US) findings may be normal in both diseases rarely. In some pediatric studies, it was reported that shear wave velocity values in autoimmune thyroiditis were significantly higher than normal thyroid parenchyma and it was recommended to be used as a diagnostic method. Our study will address the evaluation of patients with Hashimoto's thyroiditis and Graves' disease by thyroid elastography and the role of this method in diagnosis.Materials and methods: 28 patients with Hashimoto's thyroiditis, 20 patients with Graves' disease and 40 healthy controls were enrolled in our study prospectively. Thyroid Elastography and US were applied to all patients.Results: In US, Hashimoto's thyroiditis had a hypoechoic echo pattern compared to graves' disease (p < 0.05). When shear wave velocity (SWV) value of children with Hashimoto's thyroiditis and Graves' disease were compared with the control group, thyroid tissue showed more stiffness in both disease groups (p = 0.001). When SWV values were compared between Hashimoto's thyroiditis and Graves' disease, there was no statis-tically significant difference (p = 0.73).Conclucion: SWV values were found to be higher in children with Hashimoto's thyroiditis and Graves' disease compared to the control group and contributes to the diagnosis of these diseases. However, the elastography technique alone is not sufficient to differentiate. Hashimoto's thyroiditis and Graves' disease.& COPY; 2022 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.
Evaluation of Children With Type 1 Diabetes Mellitus in Terms of Overweight/Obesity in Tertiary Care Hospital
(Walter de Gruyter Gmbh, 2021) Bitkin, Eda Celebi; Kara, Cengiz; Yilmaz, Gulay Can; Mammadova, Jamala; Aydin, Hasan Murat
Objectives: Obesity is a growing problem in type 1 diabetes mellitus (T1DM) today. The aim of our study is to determine the frequency of overweight/obesity at the time of diagnosis and during follow-up in children with T1DM as well as review the conditions that may accompany. Methods: A total of 315 patients with T1DM were retrospectively analyzed. The patients were divided into two groups as normal weight and overweight/obese. The two groups were compared in terms of age at diagnosis, birth weight, anthropometric measurements, insulin dose used and blood pressure measurements, and insulin, c-peptide, hemoglobin A1c, triglyceride, and high-density lipoprotein levels at the time of diagnosis and follow-up. Results: The height, weight and body mass index standard deviation (BMI SD) scores, and c-peptide levels at the time of diagnosis of the overweight/obese group were higher than those with normal weight (p<0.001 and p = 0.008, respectively). The frequency of dyslipidemia and hypertension was higher in the overweight/obese group than in the normal weight group [18.2 vs. 5% (p = 0.015) and 10 vs. 1.5% (p = 0.003), respectively]. Conclusions: In our study, the fact that the overweight/obese group had higher BMI and c-peptide and lower HDL values at the time of diagnosis can be evaluated as indicators that insulin resistance syndrome can accompany T1DM from the beginning (double diabetes). When determining the treatment and follow-up strategies of patients with T1DM, considering the risk of obesity and taking the necessary precautions is very important in terms of morbidity.
Evaluation of Pubertal and Pathological Gynaecomastia in Children: a Single-Center Experience
(Wiley, 2021) Bitkin, Eda Celebi; Aymelek, Huri Sema; Karaman, Serap
Gynaecomastia in adolescents is a benign glandular proliferation of the male breast. Secondary causes of gynaecomastia in adolescents are relatively rare and may result from a wide variety of rare pathological conditions. Among these, klinefelter syndrome, complete androgen resistance, adrenal tumours and oestrogen-secreting testicular tumours, hypogonadism, hyperthyroidism, kidney disease and medications play a role in aetiology. The aim of our study is to review the demographic characteristics, hormone profile, aetiological characteristics of paediatric gynaecomastia patients admitted to a single center and to determine the frequency of pathological gynaecomastia. Forty-three male patients with gynaecomastia who applied to the paediatric endocrinology outpatient clinic were included in our study. Demographic characteristics, physical examination findings, hormone profile, breast ultrasonography and karyotype results of the patients were recorded. There were 43 male patients in our study. Thirty-six (83.7%) of the patients were pubertal gynaecomastia, 7 (16.2%) were pathological gynaecomastia. Three of the patients with pathological gynaecomastia were prepubertal gynaecomastia, 2 had klinefelter syndrome, 1 had hypergonadotropic hypogonadism after acute lymphoblastic leukaemia treatment and 1 had gynaecomastia after spirololactone use. Careful evaluation of patients with gynaecomastia is especially important in detecting pathological types. We reported the rare prepubertal gynaecomastia and klinefelter frequency in our study.
Evaluation of Thyroid Nodules in Children and Adolescents: Multicenter Study in Turkey
(Galenos Publ House, 2021) Kaplan, Emel Hatun Aytac; Cakir, Aydilek Dagdeviren; Esen, Ihsan; Akbas, Emine Demet; Bitkin, Eda Celebi; Akyurek, Nesibe; Keskin, Mehmet
Introduction: Ultrasonography and fine needle aspiration biopsy are reliable diagnostic methods used to predict malignancy in thyroid nodules. They are useful in identifying patients for therapy or preventing unnecessary surgery. Materials and Methods: The aim of this study was to compare clinical and ultrasonographic findings with fine needle aspiration biopsy and histopathological examination results in children with thyroid nodules. Retrospective study. This multicentre study included pediatric patients with thyroid nodules, followed up between July 2002 and November 2019 in nine Turkish Pediatric Endocrinology Units. Clinical, ultrasonographic, cytological and histopathological findings (malignant or benign) were analyzed retrospectively. Fine needle aspiration biopsy findings were classified according to American Thyroid Association criteria. Results: A total of 203 children were included, of whom 82.3% (n=167) were female. Mean +/- standard deviation age was 14.06 +/- 2.26 (range 3.7-19) years. Cytological diagnoses were: non-diagnostic or unsatisfactory 1.9%; benign 59.6%; atypia or follicular lesion of undetermined significance, suspicious for follicular neoplasm in 2.4%; suspicious for malignancy 12.8%; and malignant in 1.9%. Surgery was performed in 59 (29.1%) patients. In total 33 (16.3%) patients were diagnosed with malignancy. In patients with benign fine needle aspiration biopsy results, malignancy was detected in 17.6% when they underwent surgery. Malignancy was present in 44.4% of the patients with cytologically determined atypia or follicular lesion of undetermined significance. The diagnostic accuracy of fine needle aspiration biopsy was 79%. Conclusion: This study is first multicentre study investigating thyroid nodules in children and adolescents in Turkey. In this population fine needle aspiration biopsy has an important role in diagnosis, but ultrasonographic features of nodule should also be taken into consideration. Atypia or follicular lesion of undetermined significance may be of greater clinical significance than has previously been reported.
Nephrogenic Syndrome of Inappropriate Antidiuresis Mimicking Hyporeninemic Hypoaldosteronism: Case Report of Two Infants
(Galenos Publ House, 2023) Mammadova, Jamala; Kara, Cengiz; Bitkin, Eda Celebi; Gullu, Elif Izci; Aydin, Murat
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is an X-linked disease caused by activating mutations in the arginine vasopressin (AVP) receptor-2 (AVPR2) gene. Affected patients excrete concentrated urine despite very low levels of AVP, and consequently develop euvolemic hyponatremia. Due to its low frequency, patients may be misdiagnosed and treated incorrectly. We report two related male infants with NSIAD that was initially confused with hyporeninemic hypoaldosteronism (HH). First, a 2-month-old male presented with hyponatremia, low plasma osmolality, relatively high urine osmolality, and low plasma renin-aldosterone levels. These clinical and laboratory findings were compatible with syndrome of inappropriate antidiuretic hormone (ADH) secretion without apparent cause. Consequently, fludrocortisone was initiated with a presumptive diagnosis of HH. While correcting hyponatremia, fludrocortisone treatment led to hypertension and was discontinued promptly. The second patient, aged one year, was admitted with a history of oligohydramnios, had been hospitalized four times due to hyponatremia since birth, and had a diagnosis of epilepsy. Similarly, the second infant had clinical and laboratory findings compatible with syndrome of inappropriate ADH secretion with no apparent cause. Fluid restriction normalized his serum sodium despite the plasma AVP level being undetectable. In both infants, AVPR2 gene analysis revealed a known mutation (c.409C>T; p.R137C) and confirmed the diagnosis of NSIAD. In conclusion, NSIAD should be considered in all patients with unexplained euvolemic hyponatremia despite high urine osmolality. If NSAID is not considered, the plasma renin-aldosterone profile can be confused with HH, especially in infants.