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Öğe Does growth hormone therapy enlarge pituitary adenomas?(Galenos Publishing House, 2022) Bitkin Çelebi, Eda; Kara, Cengiz; Karaman, Serap; Başaranoglu, Murat; Yokuş, Adem; Tuncer, OğuzObjective: Pituitary adenomas are detected incidentally in some cases of childhood growth hormone deficiency. Growth hormones may affect tumor growth. This study analyzed the reliability of growth hormone therapy in patients with non-functioning pituitary adenomas. Methods: The study group included 16 hypopituitary patients with incidentally detected non-functioning pituitary adenoma and treated with recombinant growth hormone. Age- and sex-matched 16 healthy children with incidental pituitary adenoma detected during investigation of chronic headache were selected as the control group. The data of the two groups were retrospectively reviewed and compared regarding the change in adenoma size over time. Results: Changes in adenoma size in the patient and control groups were -0.1 (-0.8-0.3) mm and -0.1 (-0.5-0.3) mm, respectively (p=0.664). Adenoma size growth was detected in 3 patients in the patient group and 5 patients in the control group (p=0.685). Conclusion: Our data suggest that recombinant growth hormone therapy does not produce pituitary adenomas, and thus its use is safe in growth hormone deficient children with incidentally detected non-functioning pituitary adenomas.Öğe Genetic testing can change diagnosis and treatment in children with congenital hypothyroidism(Bioscientifica Ltd, 2023) Kara, Cengiz; Mammadova, Jamala; Abur, Ummet; Gumuskaptan, Cagri; Gullu, Elif Izci; Dagdemir, Ayhan; Aydin, MuratObjective: Guidelines on congenital hypothyroidism (CH) recommend that genetic testing should aim to improve diagnosis, treatment or prognosis, but it is unclear which patients would benefit most from the genetic investigation. We aimed to i nvestigate the genetic etiology of transient CH (TCH) and permanent CH (PCH) in a well-characterized cohort, and thereby evaluate the impact of genetic testing on the management and prognosis of children with CH. Methods: A total of 48 CH patients with normal, goitrous (n = 5) or hypoplastic thyroid (n = 5) were studied by high-throughput sequencing using a custom-designed 23-gene panel. Patients initially categorized as TCH ( n = 15), PCH (n = 26) and persistent hyperthyrotropinemia (PHT, n = 7) were re-evaluated after genetic testing. Results: Re-evaluation based on genetic testing changed the initial diagnoses from PCH to PHT (n = 2) or TCH (n = 3) and from PHT to TCH (n = 5), which resulted in a final distribution of TCH (n = 23), PCH (n = 21) and PHT (n = 4). Genetic analysis also allowed us to discontinue treatment in five patients with monoallelic TSHR or DUOX2, or no pathogenic variants. The main reasons for changes in diagnosis and treatment were the detection of monoallelic TSHR variants and the misdiagnosis of thyroid hypoplasia on neonatal ultrasound in low birthweight infants. A total of 4 1 ( 35 different, 15 novel) variants were detected in 65% (n = 31) of the cohort. These variants, which most frequently affected TG, TSHR and DUOX2, explained the genetic etiology in 46% (n = 22) of the patients. The molecular diagnosis rate was significantly hig her in patients with PCH (57%, n = 12) than TCH (26%, n = 6). Conclusions: Genetic testing can change diagnosis and treatment decisions in a small proportion of children with CH, but the resulting benefit may ou tweigh the burden of lifelong follow- up and treatment.Öğe Nephrogenic syndrome of inappropriate antidiuresis mimicking hyporeninemic hypoaldosteronism: case report of two infants(Gelenos, 2021) Mammadova, Jamala; Kara, Cengiz; Celebi Bitkin, Eda; Izci Gullu, Elif; Aydin, MuratNephrogenic 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 secretion without apparent cause. Consequently,fludrocortisone was initiated with a presumptive diagnosis of HH While correction of hyponatremia, fludrocortisone treatment led to hypertension and discontinued in a short time. The second patient at age of 1 year was admitted with a history of oligohydramnios, four times hospitalizations due to hyponatremia since birth, and a diagnosis of epilepsy. Similarly, the second infant had clinical and laboratory findings compatible with syndrome of inappropriate antidiuretic hormone secretion with no apparent cause. Fluid restriction normalized his serum sodium despite plasma AVP level was 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. In case of unawareness from NSIAD, plasma renin-aldosterone profile can be confused with HH, especially in the infants.Öğe Prevalence of obesity and metabolic syndrome in children with type 1 diabetes: A comparative assessment based on criteria established by the international diabetes federation, world health organisation and national cholesterol education program(Galenos Yayincilik, 2020) Koken, Ozlem Yayici; Kara, Cengiz; Yilmaz, Gulay Can; Aydin, Hasan MuratObjective: To determine the prevalence of obesity and metabolic syndrome (MetS) in children and adolescents with type I diabetes (TI D) and to compare the widely accepted and used diagnostic criteria for MetS established by the International Diabetes Federation UDR World Health Organisation (WHO) and National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATPIII). Methods: We conducted a descriptive, cross sectional study including T1D patients between 8-18 years of age. The three sets of criteria were used to determine the prevalence of MetS and findings compared. Risk factors related to MetS were extracted from hospital records. Results: The study included 200 patients with T1D (52 % boys). Of these, 18 % (n = 36) were overweight/obese (body mass index percentile 85%). MetS prevalence was 10.5 %, 8.5% and 13.5% according to IDF, WHO and NCEP criteria, respectively. There were no statistically significant differences in age, gender, family history of T1D and T2D, pubertal stage, duration of diabetes, hemoglobin Al c levels and daily insulin doses between patients with or without MetS. In the overweight or obese T1D patients, the prevalence of MetS was 44.4 %, 38.8% and 44.4% according to IDF, WHO and NCEP-ATPIII criteria, respectively. Conclusion: Obesity prevalence in the T1D cohort was similar to that of the healthy population of the same age. Prevalence of MetS was higher in children and adolescents with TI D compared to the obese population in Turkey. The WHO criteria include microvascular complications which are rare in childhood and the NCEP criteria do not include a primary criterion while diagnosing non-obese patients according to waist circumference as MetS because the existence of diabetes is considered as a direct criterion. Our study suggests that IDF criteria which allows the diagnosis of MetS with obesity and have accepted criteria for the childhood are more suitable for the diagnosis of MetS in children and adolescents with T1D.Öğe Revisiting Classical 3 beta-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases(Endocrine Soc, 2020) Guran, Tulay; Kara, Cengiz; Yildiz, Melek; Bitkin, Eda C.; Haklar, Goncagul; Lin, Jen-Chieh; Keskin, Mehmet; Barnard, Lise; Anik, Ahmet; Catli, Gonul; Guven, Ayla; Kirel, Birgul; Tutunculer, Filiz; Onal, Hasan; Turan, Serap; Akçay, Teoman; Atay, Zeynep; Yilmaz, Gulay C.; Mamadova, Jamala; Akbarzade, Azad; Sirikci, Onder; Storbeck, Karl-Heinz; Baris, Tugba; Chung, Bon-Chu; Bereket, AbdullahContext: The clinical effects of classical 3 beta-hydroxysteroid dehydrogenase 2 (3 beta HSD2) deficiency are insufficiently defined due to a limited number of published cases. Objective: To evaluate an integrated steroid metabolome and the short- and long-term clinical features of 3 beta HSD2 deficiency. Design: Multicenter, cross-sectional study. Setting: Nine tertiary pediatric endocrinology clinics across Turkey. Patients: Children with clinical diagnosis of 3 beta HSD2 deficiency. Main Outcome Measures: Clinical manifestations, genotype-phenotype-metabolomic relations. A structured questionnaire was used to evaluate the data of patients with clinical 3 beta HSD2 deficiency. Genetic analysis of HSD3B2 was performed using Sanger sequencing. Novel HSD3B2 mutations were studied in vitro. Nineteen plasma adrenal steroids were measured using LC-MS/MS. Results: Eleven homozygous HSD3B2 mutations (6 novel) were identified in 31 children (19 male/12 female; mean age: 6.6 +/- 5.1 yrs). The patients with homozygous pathogenic HSD3B2 missense variants of > 5% of wild type 3 beta HSD2 activity in vitro had a non-salt-losing clinical phenotype. Ambiguous genitalia was an invariable feature of all genetic males, whereas only 1 of 12 female patients presented with virilized genitalia. Premature pubarche was observed in 78% of patients. In adolescence, menstrual irregularities and polycystic ovaries in females and adrenal rest tumors and gonadal failure in males were observed. Conclusions: Genetically-documented 3 beta HSD2 deficiency includes salt-losing and non-salt-losing clinical phenotypes. Spared mineralocorticoid function and unvirilized genitalia in females may lead to misdiagnosis and underestimation of the frequency of 3 beta HSD2 deficiency. High baseline 17OHPreg to cortisol ratio and low 11-oxyandrogen concentrations by LC-MS/MS unequivocally identifies patients with 3 beta HSD2 deficiency.Öğe Utility of estimated glucose disposal rate for predicting metabolic syndrome in children and adolescents with type-1 diabetes(Walter De Gruyter Gmbh, 2020) Koken, Ozlem Yayici; Kara, Cengiz; Yilmaz, Gulay Can; Aydin, Hasan MuratObjectives: To determine the clinical utility of the estimated glucose disposal rate (eGDR) for predicting metabolic syndrome (MetS) in children and adolescents with type-1 diabetes (T1D). Methods: Modified criteria of the International Diabetes Federation were used to determine MetS in children and adolescents between 10 and 18 years of age with T1D. The eGDR, a validated marker of insulin sensitivity, was calculated in two different ways using either the waist-to-hip ratio (WHR) or waist circumference (WC). Receiver operating characteristic (ROC) curve analysis was performed to ascertain cut-off levels of the eGDR to predict MetS. Results: A total of 200 patients (52% male) with T1D were enrolled in the study. The prevalence of MetS was 10.5% (n: 21). Lower eGDR levels, indicating greater insulin resistance, were found in T1D patients with MetS when compared to those without (6.41 +/- 1.86 vs. 9.50 +/- 1.34 mg/kg/min) (p < 0.001). An eGDR(WHR) cut-off of 8.44 mg/kg/min showed 85.7% sensitivity and 82.6% specificity, while an eGDR(WC) cut-off of 8.16 mg/kg/min showed 76.1% sensitivity and 92.1% specificity for MetS diagnosis. The diagnostic odds ratio was 28.6 (7.3-131.0) for the eGDR(WHR) cut-off and 37.7 (10.8-140.8) for the eGDR(WC) cut-off. Conclusions: The eGDR is a mathematical formula that can be used in clinical practice to detect the existence of MetS in children and adolescents with T1D using only the WC, existence of hypertension, and hemoglobin A1c levels. An eGDR calculated using the WC could be a preferred choice due to its higher diagnostic performance.