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Objective: Spinal muscular atrophy is a lower motor neuron disease, but other parts of the body could be affected. This study compared bone mineral density with bone metabolism and physical growth rates in patients diagnosed with spinal muscular atrophy type 2 and type 3. Materials and Methods: Twenty-six patients with spinal muscular atrophy were included in the study (15 patients for type 2 and 11 for type 3). Weights and heights of patients were measured, standard deviation scores were determined, and the body-mass index was calculated. Motor function and pubertal assessment were performed. Serum calcium, phosphorus, alkaline phosphatase, parathormone, and 25-hydroxyvitamin vitamin D levels were compared. Spine radiography for scoliosis and bone densitometry for bone mineral density were performed, and volumetric bone mineral density was calculated for age and sex. Results: Medians of height standard deviation scores were significantly lower in type 2 patients. There was no difference between the two groups in terms of serum calcium, phosphorus, alkaline phosphatase, parathormone, and 25-hydroxyvitamin D levels. The ratio of scoliosis was higher in type 2 patients as was its severity, but Z-scores of volumetric bone mineral density was lower in the same group. Conclusion: This study showed that bone mineralization and growth rates were significantly lower in spinal muscular atrophy, mainly in type 2. Further studies are needed to evaluate bone health in spinal muscular atrophy patients., Amaç: Spinal müsküler atrofi, alt motor nöron hastalığıdır, ancak kemik sağlığı ve diğer birçok organ sistemi etkilenebilir. Bu çalışmada, tip 2 ve 3 spinal müsküler atrofi tanısı alan hastalarda kemik mineral yoğunluğu kemik metabolizması ve fiziksel büyüme oranları karşılaştırıldı. Gereç ve Yöntemler: Çalışmaya spinal müsküler atrofisi olan 26 hasta dahil edildi (tip 2; 15, tip 3; 11 hasta). Hastaların ağırlıkları ve boyları ölçülerek standart sapma skorları belirlendi ve vücut kitle indeksi hesaplandı. Motor fonksiyon ve pubertal değerlendirme yapıldı. Serum kalsiyum, fosfor, alkalen fosfataz, parathormon ve 25-hidroksivitamin D seviyeleri karşılaştırıldı. Skolyoz için omurga radyografisi ve kemik mineral yoğunluğu için kemik dansitometrisi yapılarak yaş ve cinsiyete göre hacimsel kemik mineral yoğunluğu hesaplandı. Bulgular: Tip 2 hastalarda medyan boy standart sapma skorları anlamlı olarak daha düşüktü. İki grup arasında serum kalsiyum, fosfor, alkalen fosfataz, parathormon ve 25-hidroksivitamin D seviyeleri açısından fark yoktu. Tip 2 hastalarda skolyoz oranı ve şiddeti daha yüksek, volümetrik kemik mineral yoğunluğu Z skoru daha düşüktü. Sonuç: Bu çalışma, kemik mineralizasyonunun ve büyüme oranlarının, özellikle tip 2’de olmak üzere, spinal müsküler atrofide önemli ölçüde daha düşük olduğunu göstermiştir. Spinal müsküler atrofi hastalarında kemik sağlığını değerlendiren daha ileri çalışmalara ihtiyaç vardır.

Objective: This study aims to determine the triggering role of parvovirus B19 (PV-B19) in the pathogenesis of autoimmune thyroiditis in adolescence.Materials and Methods: Thirty-five patients aged 10-18 years who were diagnosed with Hashimoto's thyroiditis in the last 6 months were included in the study. As the control group, 35 healthy volunteers without PV-B19 associated acute disease, no goiter in physical examination, no family history of thyroid disease, and normal thyroid function tests were recruited. Serum samples were tested for PV-B19 IgM and IgG antibodies and PV-B19 DNA. Statistical analysis was performed using the SPSS.Results: PV-B19 IgM antibodies were positive in 4 (11.4%) patients and 5 (14.3%) controls whereas PV-B19 IgG antibodies were present in 13 (37.1%) patients and 6 (17.1%) controls. PV-B19 DNA was detectable in 11.4% of patients (n:4) and 14.3% of controls (n:5). There was no significant difference between the patient and control groups in terms of antibody and polymerase chain reaction positivity. In logistic regression analysis, free thyroxine level (p:0.021), anti-thyroid peroxidase antibody level (p:0.005), and isthmus thickness (p:0.021) were found to be effective on PV-B19 IgG positivity.Conclusion: Previous PV-B19 infections may be one of the triggers in the pathogenesis of Hashimoto’s thyroiditis., Amaç: Bu çalışmanın amacı adolesan çağındaki otoimmün tiroidit patogenezinde Parvovirus B19'un (PV-B19) tetikleyici rolünü belirlemektir.Materyal ve Metot: Çalışmaya son 6 ayda Hashimoto tiroiditi tanısı konulan 10-18 yaş arası 35 hasta dahil edildi. Kontrol grubu olarak PV-B19 ile ilişkili akut hastalığı olmayan, fizik muayenesinde guatr olmayan, ailede tiroid hastalığı öyküsü olmayan ve tiroid fonksiyon testleri normal olan 35 sağlıklı gönüllü alındı. Katılımcılardan alınan serum örnekleri PV-B19 IgM ve IgG antikorları ve PV-B19 DNA için test edildi. İstatistiksel analiz SPSS programı kullanılarak yapıldı.Bulgular: Dört (%11,4) hasta ve 5 (%14,3) kontrolde PV-B19 IgM antikorları pozitif iken, 13 (%37,1) hasta ve 6 (%17,1) kontrolde PV-B19 IgG antikorları mevcuttu. PV-B19 DNA'sı hastaların %11,4'ünde (n:4) ve kontrollerin %14,3'ünde (n:5) saptandı. Antikor ve polimeraz zincir reksiyonu pozitifliği açısından hasta ve kontrol grupları arasında anlamlı fark yoktu. Lojistik regresyon analizinde PV-B19 IgG pozitifliği üzerine serbest tiroksin düzeyi (p:0,021), antitiroid peroksidaz antikor düzeyi (p:0,005) ve istmus kalınlığı (p:0,021) etkili bulundu.Sonuç: Geçirilmiş PV-B19 enfeksiyonları, Hashimoto tiroiditi patogenezinde tetikleyicilerden biri olabilir.

Acid-labile subunit (ALS) forms ternary complexes with insulin like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) and is essential for normal circulating IGF-1 levels. The IGFALS gene encodes the ALS and mutations in IGFALS cause ALS deficiency. We describe a patient with ALS deficiency with a novel homozygous frameshift mutation in IGFALS presenting with short stature and delayed puberty but ultimately achieving an adult height (AH) comparable to his target height (TH). A 15.25 year old boy presented with short stature (149.9 cm, -3.04 standard deviation score). The patient had a low circulating IGF-1 concentration, extremely low IGFBP-3 concentration, insulin resistance and osteopenia. The peak growth hormone (GH) response to GH stimulation test was high (31.6 ng/mL). Sequencing of IGFALS revealed a novel, homozygous, frameshift mutation (p.Ser555Thrfs.19). His mother and elder sister were heterozygous carriers. Although he had delayed puberty and short stature at the onset of puberty, he reached his TH and an AH similar to those of his heterozygous mother and sister. The heterozygous carriers had normal or low IGF-1 concentrations and low IGFBP-3 concentrations but not as markedly low as that of the patient. They had normally timed puberty, insulin metabolism and bone mineral density (BMD). The phenotype of ALS deficiency is quite variable. Despite short stature and delayed puberty, patients can achieve normal pubertal growth and AH. ALS deficiency may cause osteopenia and hyperinsulinemia. Heterozygous carriers may have normal prenatal growth, puberty, insulin metabolism and BMD.

Aim: Bisphenol A (BPA), one of the most commonly produced and used endocrine disruptors in the world, is a chemical employed in the production of polycarbonate and epoxy resins. A significant relationship between urinary BPA levels and obesity has been shown in clinical trials. This study aimed to investigate the relationship between urinary BPA levels and obesity in childhood.

Background: Congenital hypothyroidism(CH) is the most common neonatal endocrinological disorder in the world. Although most of the CH is sporadic, some genetic defects are responsible from the etiology. The aim of this study was to determine the genetic and etiological factors of CH. Methods: 49 patients(female;n=24), from 24 families were included in the study. The data, collected retrospectively, consisted of medical history, physical examination, clinical findings, thyroid hormone levels and etiological tests. Gene panel consisting of 19 genes(PAX8,NKX2-1,NKX2-5,FOXE1,TSHR,SLC5A5,SLC26A4,TG,TPO,DUOX2, DUOXA2,IYD,SLC26A7,DUOX1-ZNF607,SLC6A4,GLIS3,TSHB,THRA) that may cause CH was performed. Pathogenicity of the novel nonsynonymous mutations were analysed via in silico prediction programs. Results: Sixteen families had consanguineous marriages and 12 families had a history of hypothyroidism. Twenty patients were diagnosed with neonatal screening programme and 2 patients with hyperbilirubinemia, 5 patients were diagnosed during hospitalization in neonatal intensive care unit and 22 patients were diagnosed during the routine control. The mean age at presentation (mean±SD) was 1.3±2.1 years (median:0.2;range0.03-8.8). The mean TSH level at presentation was 152.3±207.9mIU/ml (median:51.8;range4.2-820), and the level of fT4 was 8.8±5.9 pmol/L(median:9.4;range0.04-19.7). All patients underwent ultrasonography and one patient had thyroid agenesis. Scintigraphy was performed to 23 patients and thyroid agenesis and thyroid hyperplasia were detected in two patients. Perchlorate discharge test was performed on 21 patients and two of them could not be evaluated due to errors in processing. Four patients had normal results, 9 patients had partial dyshormogenesis and 6 patients had complete dyshormogenesis. Genetic analysis revealed that four families with consanguineous marriages (4/24,16.7%) had mutations in 3 different genes. Two families were followed because of complete dyshormogenesis and two families were followed because of partial dyshormogenesis. Family I had a homozygous c.1349G>A(p.R450H) mutation in the TSHR gene. Second family had a homozygous c.1477G>A(p.G493S) mutation in the TPO gene. Third family had a homozygous missense p.R540X mutation in the TPO gene. Family IV had a homozygous novel c.280G>A(p.G94R) mutation in the SLC26A7 gene. Conclusion: In our study, the overall mutation rate was 16.7%. Genetic etiologies may differ in patients with dyshormonogenesis. A novel mutation was shown in the SLC26A7 gene in a family with partial dyshormogenesis. Genetic analysis can be used to clarify the etiology, to be informed about prognosis and to provide genetic counseling especially in familial cases. It has been suggested that a greater number of related genes should be screened for the recognition of genetic causes that may cause of CH.

bayramoglu, elvan/0000-0002-6732-8823 WOS: 000485922404112 …

Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management. Objective: The objective of the study was to investigate the clinical and molecular genetic characteristics of a nationwide cohort of children with PAI of unknown etiology. Design: A structured questionnaire was used to evaluate clinical, biochemical, and imaging data. Genetic analysis was performed using Haloplex capture and next-generation sequencing. Patients with congenital adrenal hyperplasia, adrenoleukodystrophy, autoimmune adrenal insufficiency, or obvious syndromic PAI were excluded. Setting: The study was conducted in 19 tertiary pediatric endocrinology clinics. Patients: Ninety-five children (48 females, aged 0-18 y, eight familial) with PAI of unknown etiology participated in the study. Results: A genetic diagnosis was obtained in 77 patients (81%). The range of etiologies was as follows: MC2R (n = 25), NR0B1 (n = 12), STAR (n = 11), CYP11A1 (n = 9), MRAP (n = 9), NNT (n = 7), ABCD1 (n = 2), NR5A1 (n = 1), and AAAS (n = 1). Recurrent mutations occurred in several genes, such as c.560delT in MC2R, p.R451W in CYP11A1, and c. IVS3ds + 1delG in MRAP. Several important clinical and molecular insights emerged. Conclusion: This is the largest nationwide study of the molecular genetics of childhood PAI undertaken. Achieving a molecular diagnosis in more than 80% of children has important translational impact for counseling families, presymptomatic diagnosis, personalized treatment (eg, mineralocorticoid replacement), predicting comorbidities (eg, neurological, puberty/fertility), and targeting clinical genetic testing in the future. Türk Pediatrik Endokrinoloji Araştırma Bursu- UPE-2014-2 Wellcome Trust/European Commission - 098513/Z/12/Z National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London European Commission - PIEF-GA-2012-328959

Objective: The aim of this study was to investigate the effect of hypo− and euthyroid status on serum cystatin C (CysC) levels in children and to explore whether CysC can be used as a marker of the thyroid status. Methods: Twenty five patients with hypothyroidism (10M, 15F; mean age:8.7±4.9 years) and 21 healhty age−matched controls (9M, 12F; mean age: 9.7±5.0 years) were included in this study. Serum thyrotropin (TSH), free thyroxine (fT4), serum CysC and creatinine levels were studied in patients with hypothyroidism twice, i.e. in the euthyroid (on L−T4) and hypothyroid state, and in controls. Results: No significant differences in creatinine, glomerular filtration rate (GFR) and CysC levels were observed between the study group in the euthyroid status and the control group. CysC (mg/dL) level was found to be lower in the hypothyroid status(0.6±0.1) than in the euthyroid status (0.66±0.1) (p=0.01). In hypothyroid status, CysC levels showed a positive correlation with GFR (r=0.463, p=0.02) and GFR had positive correlation with fT4 (r=0.563, p=0.012). Conclusions: We demonstrated a significant effect of thyroid dysfunction on CysC levels, but the changes in serum CysC levels in hypo− and euthyroid status did not exceed the reference interval. It may be concluded that serum CysC levels have limited use in evaluating the peripheral effects of thyroid hormones. Conflict of interest:None declared.

Congenital hypothyroidism represent one of the most common preventable causes of mental retardation The incidence of congenital hypothyroidism detected by screening varies from 1 in 3500 to 1 in 4500 Transient disorders of thyroid function detected at screening but disappear subsequently in a few days or weeks may be seen as transient primary hypothyroidism transient hyperthyrotropinaemia or transient hypothyroxinaemia Transient primary hypothyroidism: This disorders is characterized by low serum T4 and high TSH concentrations The prevalance varies geographically being higher in iodine deficient areas which is approximately 1 2000 1 8000 in Europe 1 50000 in USA Administration of iodine containing drugs to the mother in utero or in postnatal period amniotic injection of radiographic contrast agents for amniofetography or use of iodinated skin disinfectants in the neonate may induce hypothyroidism Premature and low birth weight infants are more susceptible to the externally applied iodine induced hypothyroidism Antithyroid drugs used in the pregnant woman with Graves disease may cause transient hypothyroidism by crossing the placenta TSH receptor blocking antibodies may also cause thyroid deficiency on the nervous system justify the treatment with thyroid hormones Therapy is subsequently discontinued according to the underlying cause If the diagnosis is not certain therapy may be continued up to 3 years of age and thyroid hormone status re evaluated after 6 weeks of therapy Transient hyperthyrotropinaemia: This is characterized by high TSH and normal T4 levels Intrauterine iodine excess or deficiency and intrauterine antithyroid drug exposure may result in transient hyperthyrotropinemia Affected infants do not require treatment but prolonged follow up is necessary to exclude the possibility of a permenant disorder such as an ectopic thyroid or an inborn detect in thyroid hormonogenesis Transient hypothyroxinaemia: Serum T4 is low TSH is normal Immaturity of hypothalamo pituitary thyroid axis is the main cause of this disorder which is seen in 3 9 of neonates with higher prevalence in the premature infants Serum T4 concentrations increase with progressive maturation The effect of transient hypothyroxinemia on mental developmental in early infancy is not known thus the treatment of affected infants is controversial In addition to these disorders low T3 syndrome in preterm infants is a normal condition which may last up to 6 7 weeks Key words: Transient Primary Hypothyroidism Congenital Hypothyroidism Neonatal Thyroid Disorders Hyperthyrotropinemia Hypothyroxinaemia Cretinism Goiter Topical Povidone Iodine, SummaryCongenital hypothyroidism represent one of the most common preventable causes of mental retardation The incidence of congenital hypothyroidism detected by screening varies from 1 in 3500 to 1 in 4500 Transient disorders of thyroid function detected at screening but disappear subsequently in a few days or weeks may be seen as transient primary hypothyroidism transient hyperthyrotropinaemia or transient hypothyroxinaemia Transient primary hypothyroidism: This disorders is characterized by low serum T4 and high TSH concentrations The prevalance varies geographically being higher in iodine deficient areas which is approximately 1 2000 1 8000 in Europe 1 50000 in USA Administration of iodine containing drugs to the mother in utero or in postnatal period amniotic injection of radiographic contrast agents for amniofetography or use of iodinated skin disinfectants in the neonate may induce hypothyroidism Premature and low birth weight infants are more susceptible to the externally applied iodine induced hypothyroidism Antithyroid drugs used in the pregnant woman with Graves disease may cause transient hypothyroidism by crossing the placenta TSH receptor blocking antibodies may also cause thyroid deficiency on the nervous system justify the treatment with thyroid hormones Therapy is subsequently discontinued according to the underlying cause If the diagnosis is not certain therapy may be continued up to 3 years of age and thyroid hormone status re evaluated after 6 weeks of therapy Transient hyperthyrotropinaemia: This is characterized by high TSH and normal T4 levels Intrauterine iodine excess or deficiency and intrauterine antithyroid drug exposure may result in transient hyperthyrotropinemia Affected infants do not require treatment but prolonged follow up is necessary to exclude the possibility of a permenant disorder such as an ectopic thyroid or an inborn detect in thyroid hormonogenesis Transient hypothyroxinaemia: Serum T4 is low TSH is normal Immaturity of hypothalamo pituitary thyroid axis is the main cause of this disorder which is seen in 3 9 of neonates with higher prevalence in the premature infants Serum T4 concentrations increase with progressive maturation The effect of transient hypothyroxinemia on mental developmental in early infancy is not known thus the treatment of affected infants is controversial In addition to these disorders low T3 syndrome in preterm infants is a normal condition which may last up to 6 7 weeks Key words: Transient Primary Hypothyroidism Congenital Hypothyroidism Neonatal Thyroid Disorders Hyperthyrotropinemia Hypothyroxinaemia Cretinism Goiter Topical Povidone Iodine

Horseshoe kidney is the most common fusion anomaly of the kidney and can be associated with certain syndromes While 2 3 of the cases may be asymptomatic throughout life 1 3 of may be merged with hydronephrosis calculus formation recurrent urinary tract infection or hypertension at different stages of life Out of 11 horseshoe kidney cases followed by the Istanbul University Faculty of Medicine Pediatric Nephrology Department 27 were Turner syndrome 27 had lumbar meningomyelocele 18 showed severe growth retardation and 9 had congenital heart disease VSD aorta insufficiency Forty five percent also had recurrent urinary tract infection 18 had hydronephrosis 18 had vesicoureteral reflux and 9 nephrolithiasis These results show the importance of genetics nephrourologic evaluation and follow up of children with horseshoe kidney Key words: Urinary Tract Abnormalities Hydronephrosis Nephrolithiasis Hypertension, Atnalı böbrek böbrek füzyon anomalilerinin en sık görülenidir Bu anomali bazı sendromlara eşlik edebilir Tüm atnalı olgularının 2 3 ü asemptomatiktir 1 3 oranında ise hayatın çeşitli dönemlerinde hidronefroz taş oluşumu tekrarlayan infeksiyonlar ve hipertansiyon ortaya çıkabilir nbsp; İstanbul Tıp Fakültesi Çocuk Nefrolojisi polikliniğinde atnalı böbrek anomalisi tanısı ile izlenen 11 olgunun 27 si Turner sendromu 27 si lomber meningomiyelosel 18 i ağır büyüme gelişme geriliği 9 u konjenital kalp hastalığı VSD ve aort yetersizliği ile birlikteydi Olguların 45 inde tekrarlayan üriner enfeksiyon 18 inde hidronefroz 18 inde vezikoüreteral reflü 9 unda böbrek taşı 18 inde hipertansiyon saptandı Bu gözlemler atnalı böbrek anomalisi bulunan olgularda genetik ve nefroürolojik izlemenin önemini göstermektedir Anahtar kelimeler: Atnalı Böbrek Üriner Anomaliler Nefrolitiaz Hipertansiyon Horseshoe Kidney

Neurofibromatosis is a multisystemic and autosomal dominant inherited disorder in which vascular anomalies may lead to secondary hypertension Renal artery stenosis is the most common cause of hypertension in such patients A 10 year old male patient with the complaints of headache vomiting vertigo was diagnosed as having neurofibromatosis type I Having observed the presence of hypertension in the patient he was taken under antihypertensive therapy Although there were no abnormalities in the first angiographic evaluation control renal angiography at the end of the first year revealed stenosis in the right main artery and hypovascularisation in the right kidney Nephrectomy was performed after which the patient remained normotensive without any therapy We present this case to show that renovascular hypertension may develop in patients with neurofibromatosis Therefore they should be followed up carefully Key words: Renal Artery Stenosis Neurofibromatosis Hypertension, Multisistemik ve otosomal dominant geçişli bir hastalık olan nörofibromatozda vasküler anomaliler nedeni ile sekonder olarak hipertansiyon ortaya çıkabilmektedir Nörofibromatozlu hastalarda en sık hipertansiyon nedeni renal arter stenozudur Kliniğimize başağrısı kusma başdönmesi yakınmaları ile başvuran 10 yaşındaki erkek hastaya nörofîbromatoz tip I tanısı kondu Antihipertansif tedavi ile kan basıncı kontrol altına alınan hastada ilk yapılan angiografik incelemede vasküler anomali gösterilememesine karşın daha sonra sağana renal arterde belirgin bir stenoz ve sağ böbrekte hipovaskülarizasyon belirlendi Hastaya nefrektomi yapıldı Nefrektomiden sonra antihipertansif ilaçlar kesildi ve hastanın tansiyonu normal sınırlar içinde seyretti Bu olgu nedeniyle nörofibromatozun renovasküler hipertansiyona yol açabileceği bu hastaların sık aralarla izlenmesi gerektiği vurgulandı Anahtar kelimeler: Renal Arter Stenozu Nörofibromatoz Hipertansiyon

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Objective: The aim of this study was to describe the characteristics and the etiological profile of children with severe short stature evaluated at a tertiary Pediatric Endocrinology centre in Istanbul. Method: Randomly selected 500 patients with the diagnosis of severe short stature height SDS, Amaç: Araştırmamızın amacı İstanbul’da üçüncü basamak bir Pediatrik Endokrinoloji merkezinde izlenen ağır boy kısalığı olgularının etiyolojik profilini ve karakteristiklerini incelemektir. Yöntem: Rastgele seçilen 500 ağır boy kısalığı boy SDS

Amaç: D vitamininin kas-iskelet sistemi, immun sistem ve daha birçok mekanizma ile; B12 vitamininin ise özellikle nörokognitif fonksiyonlar olmak üzere yine çeşitli mekanizmalarla insan sağlığı üzerine önemli etkileri olduğu bilinmektedir. Bu yüzden hızlı gelişim ve değişim dönemi olan ergenlikte bu vitamin düzeylerinin istenilen sınırlar içerisinde olması önemlidir. Bu çalışmamızda amacımız ergenlerde D ve B12 vitamin düzeylerini değerlendirmekti.Gereç ve Yӧntem: İstanbul Tıp Fakültesi Ergen Sağlığı Bilim Dalı polikliniğine Ocak-Aralık 2014 tarihleri arasında nonspesifik yakınmalarla ya da kontrol amaçlı başvuran 10-20 yaş arası ergenlerin dosyaları retrospektif olarak incelendi. Serum 25 hidroksi D 25OHD vitamin düzeyi n=187 ve serum B12 düzeyi n=219 ölçülmüş olan hastaların dosyaları değerlendirmeye alındı. Bulgular: Ergenlerin %56’sında serum 25OHD vitamin, Objective: Current guidelines recommend vitamin D supplementation during the adolescence period. Studies showed that the deficiencies of vitamins D and B12 are common in children in developing countries. On the other hand it is important to have optimum levels of vitamin D and B12 during the puberty. This study aims to evaluate the vitamin D and vitamin B12 levels of adolescents admitted to the outpatient department.Material and Method: The study was carried out in the Istanbul Medical Faculty, Department of Adolescent Health outpatient clinic between January to December 2014. The records of the adolescents aged 10-20 years were analyzed retrospectively. Of 187 adolescents were evaluated for vitamin 25 OH D and 219 were evaluated for vitamin B12.Results: Of 187 adolescents 56% had 25-OH vitamin D level ≤20 ng/ml, and 36% between 20-30 ng/ml. There were no statistically significant difference between genders or months in a year. Serum vitamin B12 levels were below the optimal level

İzoniazid çocukluk çağı tüberkülozunun tedavi ve profilaksisi için en sık kullanılan ilaçlardan biridir. Yaygın bir şekilde kullanılmasına paralel olarak kaza veya kasıtlı olarak zehirlenme vakaları görülmektedir. Konvülziyon, metabolik asidoz ve koma üçlemesi ile başvuran hastalarda INH zehirlenmesi düşünülmeli ve hızla piridoksin tedavisi başlanmalıdır. Öz kıyım özellikle ergenlik döneminde sık karşılaşılan durumlardan birsidir. Bu makalede öz kıyım amaçlı isoniazid zehirlenmesi ile gelen ergen bir vaka sunularak, izoniazid zehirlenmesine ve ergenlerin öz kıyım girişimlerine yaklaşım değerlendirilecektir., Isoniazid INH is one of the most commonly used drugs for the prophylaxis and treatment of childhood tuberculosis. Cases of accidental or intentional poisoning are seen in parallel with its widespread use. In patients presenting with triad of seizures, metabolic acidosis and coma, INH poiso- ning should be considered and pyridoxine therapy should be initiated quickly. Suicide is one of the frequent problems of the adolescents. In this article approach to isoniazid poisoning and adolescents’ suicide attempts will be evalu- ated by presenting a patient who intoxicated himself with isoniazid with the intention to commit suicide

Aim: The aim of this study was to evaluate the etiological factors in a large group of children with central diabetes insipitus CDI , to assess the significance of anthropometric parameters at presentation with respect to different etiologies, and the follow up data after the spesific treatment. Method: The records of 48 patients 20F, 28M with CID were reviewed retrospectively. Height and weight at presentation and at last visit were expressed as standart deviation score SDS . The cerebral magnetic resonance imaging MRI findings of patients were reevaluated. Results: The etiology of CDI in 20 cases 41.7 % was considered to be idiopathic, 8 16.7 % cases were histiyocytosis; 7 14.7 % cases were craniofaringioma; 4 8.4 % cases were due to head trauma; 4 8.4 % cases were empty sella; 1 2 % case was DİDMOAD syndrome diabetes insipitus, diabetes mellitus, optic atropy, deafness . Height and weigth SDS of the patients at presentation were -1.0 ±0.9 and -0.9± 1.2 respectively. When evaluated according to the etiology, height SDS values at presentation were significantly lower in multiple hormon deficiency group [-1.2 ±1.9 ] with respect to isolated AVP arginin vasopressin peptid deficiency [0.4 ±2.1 ] p, Amaç: Çocukluk döneminde santral diyabetes insipitus SDI tanısıyla izlenen geniş bir vaka grubunun etiyolojik değerlendirmesini yapmak, hastaların başvurudaki antropometrik verilerinin etiyolojik tanı açısından önemini irdelemek ve tedavi sonrası durumlarını değerlendirmek amacı ile SDI tanısı alan 48 hastanın bulguları geriye dönük değerlendirildi. Yöntem: Poliüri ve polidipsi yakınmaları ile polikliniğimize başvuran ve SDI tanısı alan 48 20 kız, 28 erkek vaka geriye dönük olarak dosyalarından değerlendirildi. Başvuru ve izlemdeki boy ve kilo değerleri standart deviasyon skoru SDS olarak dile getirildi. İdiyopatik vakalar beş yıl boyunca yılda bir çekilen hipofiz manyetik rezonans görüntüleme MRI ile değerlendirildi. Bulgular: Vakaların 20’si % 41.7 idiyopatik olarak değerlendirilirken; sırasıyla 8 % 16.7 vakada histiyositoz, 7 % 14.7 vakada kraniofarengioma, 4 % 8.4 vakada kafa travması, 4 % 8.4 vakada boş sella, 1 % 2 vakada DİDMOAD diyabetes insipitus, diyabetes mellitus, optik atrofi, sağırlık saptandı. Vakaların ortalama geliş boy SDS değeri -1.0 ±0.9 ; ağırlık SDS’si -0.9± 1.2 SDS idi. Vakalar izole AVP arginin vazopressin peptid eksikliği n:23 ve çoğul hormon eksikliği n:25 olarak iki gruba ayrıldığında ortalama başvuru boy SDS’si çoğul hormon yetersizliği olan grupta -1.2 ±1.9 ; izole hormon eksikliği olan grupta -0.4 ±2.1 olup, çoğul hormon eksikliği olan grupta anlamlı olarak düşük bulundu p

Amaç: Kronik hastalığı olan çocuklar ve aileleri için erişkin polikliniklerine geçiş endişe verici olabilmektedir. Çalışmamızın amacı, çocukluk döneminden erişkin döneme geçiş sürecinde uyguladığımız yöntemlerin sunulmasıdır. Gereç ve Yöntem: 2001-2017 yılları arasında, iki farklı geçiş modeliyle erişkin endokrinolojiye devredilen hastalar değerlendirildi. Birinci modelde Model 1 çocuk ve erişkin endokrinologlarla beraber yapılan tek toplantıda hasta ve/veya yakınlarının katılımıyla veya katılımı olmaksızın yalnızca epikriz ile geçiş yapılmıştır. İkinci modelde Model 2 ise hastalar Çocuk ve Erişkin Endokrinoloji dernekleri tarafından ortak olarak geçiş hastaları için hazırlanan formlar kullanılarak “Hasta Geçiş Polikliniği”nde en az 4-6 ay ara ile görülüp değerlendirildikten sonra erişkin endokrinolojiye devredilmiş ve hastaların 4-6 ay arayla 1 yıl ortak poliklinik takibi gerçekleşmiştir. Ayrıca hasta ve yakınlarının geçişle ilgili değerlendirmelerini almak için Psikiyatri Kliniğinin hazırladığı hasta memnuniyet ölçeği kullanılmıştır. Bulgular: Model 1 ile devredilen 373 hastanın 312 kız, 161 erkek, 18-31 yaş , %26’sı tiroid hastalıkları, %25’i DM diyabet , %9’u konjenital adrenal hiperplazi KAH , %5’i çoğul hipofiz hormon eksikliği ÇHHE , %3’ü büyüme hormonu eksikliği BHE , %2’si Turner sendromu TS , %2’si cinsiyet gelişim bozukluğu CGB , %3’ü obezite-hiperinsülinemi, %4’ü puberte bozuklukları/ergen sağlığı sorunları, %7’si kalsiyum-kemik metabolizması bozuklukları, %6’sı boy kısalığı, %3’ü diğer grubundaydı. Bu hastaların %8’inin erişkin endokrinolojiye en az 1 poliklinik başvurusu mevcuttu. Yirmi yedi hasta ise Model 2 ile 19 kız, 6 erkek, 19-22 yaş devredilmiştir. Mevcut tanıların %48’si DM, %19’u ÇHHE, %11’i BHE, %11’i tiroid hastalıkları, %22’si KAH, %4’ü CGB, %4’ü hipogonadizm olup, bu hastaların tümünün takibi devam etmektedir.Sonuç: Hastaların çocuk ve erişkin endokrinologlar tarafından bir süre beraber değerlendirip takip edilerek devredilmesinin hastaların geçiş sürecindeki endişelerinin ve sürecin olumsuz yönlerinin azaltılmasında yararlı olacağı düşünülmüştür, Objective: As transition to admission to adult polyclinics can be stressful both for children with chronic diseases and their families, our study aims to present the methods we used during this transition period.Material and Method: The patients who were transferred to adult endocrinology polyclinic with two different transition models between 2001-2017 were evaluated in the study. In the first model Model 1 , transition was conducted in a single meeting with pediatric and adult endocrinologists, whereas patients and/or their relatives had either participated or not by the help of patient records . And in the second model Model 2 , patients were transferred to the adult endocrinology polyclinic , after being seen and evaluated at the “Transition Outpatient Clinic” for at least 4-6 months intervals by using the forms prepared by the Associations of Pediatric and Adult Endocrinology; and a mutual clinic follow-up was carried out for a year, with 4-6 month-intervals. In addition, the patient satisfaction scale prepared by the Psychiatric Clinic was used to evaluate the opinions of patients and their relatives, regarding the transition.Results: Among 373 patients 312 females, 161 males,18-31 years transferred with Model 1; 26% had thyroid diseases, 25% had diabetes DM , 9% had congenital adrenal hyperplasia CAH , 5% had multiple pituitary hormone deficiency MPHD , 3% had growth hormone deficiency GHD , 2% had Turner syndrome TS , 2% had disorders of sex development DSD , 3% had obesity-hyperinsulinemia, 4% had adolescent health problems, 7% had calcium/bone metabolism disorders, 6% had idiopathic short stature and 3% was in the “others” group. 8% of these patients had at least 1 outpatient application to adult endocrinology. Among 27 patients transferred with Model 2 19 female, 6 male, 19-22 years ; 48% of the diagnoses had DM, 19% had MPHD, 11% had GHD, 11% had thyroid diseases, 22% had CAH, 4% had DSD, and 4% had hypogonadism; and all these patients have follow-ups going on.Conclusion: A transition conducted by the mutual evaluation and follow-up of pediatric and adult endocrinologists for a while is thought to be effective on reducing the patients’ anxiety and the negative effects observed during the transition periods

Mandibuloakral displazi postnatal başlangıçlı büyüme geriliği, dismorfik yüz bulguları, iskelet bulguları, cilt bulguları ve metabolik bozukluklar ile karakterize ender görülen otozomal resesif sendromlardan biridir. Hastalığın tipik özelliği, vakaların doğumda tamamen normal olması ve yaş ilerledikçe büyüme geriliği, dismorfizm ve diğer bulguların tabloya eklenmesidir. Mandibuloakral displazi yağ dağılım paternine göre tip A MADA ve tip B MADB olmak üzere iki tipe ayrılır. MADA’da ekstremitelerde yaygın yağ doku kaybı ve yüz, boyun ve gövdede yağ dokusu artışı vardır. MADB’de ise tüm vücutta yaygın yağ doku kaybı vardır. Hastalığa neden olan genler lamin A/C LMNA ve çinko metalloproteinaz ZMPSTE24 olup, her iki gende, A tipi laminlerin oluşumunda görevlidir. ZMPSTE24 geni prelamin A’nın post-translasyonel modifikasyonunda rol alır. LMNA genindeki bozukluklara primer laminopatiler, ZMPSTE24 genindeki bozukluklara sekonder laminopatiler denir. Günümüze kadar en az yedi otozomal dominant ve dört otozomal resesif hastalıkta primer laminopati tanımlanmıştır. Sekonder laminopatiler ise iki otozomal resesif hastalıkta, MADB ve restriktif dermopati, gözlenmiştir. Belirgin büyüme-gelişme geriliği ve dismorfik bulguları nedeniyle kliniğimize başvuran ve ciltaltı yağ doku kaybı yaygın olması, klinik bulguların 2,5 yaşında başlaması ve böbrek tutulumu olması nedeniyle klinik MAD tip B tanısı alan 14 yaşında bir erkek vaka klinik ve laboratuvar bulguları ile sunulmuştur, Mandibuloacral dysplasia is a rare autosomal recessive disorder characterized by postnatal growth retardation, dysmorphic facial features, skeletal findings, skin findings and metabolic changes. As the typical feature of the disease, patients are normal at birth and as they get older growth retardation, dysmorphism and other accompanying findings contribute to the clinical picture. Mandibuloacral dysplasia is subdivided into two groups due to the fat distribution pattern as type A MADA and type B MADB . In MADA fat tissue is diffusely lost at extremities and increased at face, neck and body. In MADB there is diffuse fat tissue loss all over the body. Disease causing genes, lamin A/C LMNA and zinc metalloproteinase ZMPSTE24 , are responsible for lamin A formation. ZMPSTE24 gene has a role in prelamin A`s postranslational modification. Defects in LMNA gene are named as primary laminopathy and defects in ZMPSTE24 gene are referred as secondary laminopathy. Up to date seven autosomal dominant and four autosomal recessive primary laminopathies have been described. Secondary laminopathies are observed in two autosomal recessive, MADB and restrictive dermatopathy, disorders. We here report a 14-years old male patient`s clinical and laboratory findings who was referred to our outpatient clinics for prominent growth retardation and dysmorphic features and clinically diagnosed as MADB due to diffuse fat tissue loss, age of onset of symptoms being 2,5 years and renal findings.

İdiyopatik boy kısalığı İBK , boyun - 2 standart deviasyon skorunun SDS altında olması ve altta yatan herhangi bir hastalığın olmamasıdır. Ailevi boy kısalığı ve ailevi olma- yan boy kısalığı olarak iki gruba ayrılır. İBK patofizyoloji- si çok geniş ve heterojendir. Boy kısalığı nedenleri açısın- dan uygun değerlendirmeler yapılıp, İBK tanısı ile takip edilmeye başlanan çocuklar için çok yönlü tedavi protokol- leri denenmekte ve olumlu sonuçlar alınabilmektedir, Idiopathic short stature ISS refers to the condition where the height is below-2 standard deviation score SDS wit- hout any underlying disease. It may be divided in two gro- ups as familial short stature and non-familial short stature. The pathophysiology of ISS is multifaceted and very hete- rogeneous. Following appropriate evaluations, children with ISS can be treated with a multifaceted treatment pro- tocol and satisfactory results can be achieved

Ergenlik kavram olarak; aile yapısını, sağlık ve beslenme koşullarını, coğrafi özellikleri, iklimi, kültürü, toplumu ve ergenin düşünce-duygu-davranış özelliklerini barındırmaktadır. Bundan dolayı ergenlik dönemi birçok disiplinin mesleki müdahalesini gerekli kılmaktadır. Bu disiplinlerden biri de sosyal çalışma disiplinidir. Sosyal çalışma, tüm müracaatçı gruplarında olduğu gibi ergenlerle çalışırken “psiko-sosyal teşhis ve tedavi” formülasyonuyla müdahale eder. Psiko-sosyal değerlendirme tıbbi tedavi yerine kullanılamaz ancak tıbbi tedaviyi destekler. Sosyal hizmet uzmanının psiko-sosyal formülasyonla ergen ve ailelere mesleki müdahalesi onların yaşam kalitesi ve iyilik hâlinin devamı açısından çok anlamlıdır ve bu katkı aynı zamanda sosyal refaha da aktarılmaktadır. Sosyal çalışmanın odak noktası “çevresi içinde birey” odağıdır. Bu derlemede amaç, ergenin mikro, mezzo perspektifde değerlendirilmesinde sosyal çalışmacının rolünü ortaya koymaktır., The term adolescence comprises of multiple factors including adolescent’s thoughts,feelings, behavioral characteristics, family structure, health and nutritional conditions, geographical features, climate, culture, and society. Therefore multidisciplinary professional approach is required in this special period. One of these disciplines is the social work discipline. Social work interferes with adolescents, as in the all applicant groups, with the formulation of “psycho-social diagnosis and treatment”. Psychosocial assessment can not be used in place of medical treatment but supports medical treatment. The professional intervention of the social worker with the psychosocial formula in adolescents and families is very meaningful in terms of their continuing quality of life and well-being, and this contribution is also transferred to social refinement. The focus of social work is the “individual in the periphery”. In this review, the aim is to reveal the role of social worker in evaluating adolescent in micro-, and mezzo perspective.

Objective: androgen insensivity syndrome (AIS) and 5 alpha-reductase deficiency (5 alpha-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the definitive diagnosis in the prepubertal period. The aim was to evaluate the clinical, hormonal and genetic findings of 46,XY DSD patients who were diagnosed as AIS or 5 alpha-RD. Methods: patients diagnosed as AIS or 5 alpha-RD according to clinical and hormonal evaluations were investigated. Sequence variants of steroid 5-alpha-reductase type 2 were analyzed in cases with testosterone/dihydrotestosterone (T/DHT) ratio of >= 20, whereas the androgen receptor (AR) gene was screened when the ratio was T, p.Glu32*, c.330G>C, p.Leu110=; c.2084C>T, p.Pro695Leu, c.2585_2592delAGCTCCTG, p.(Lys862Argfs*16), of these c.330G>C with silent status remained undefined in terms of its causative effects. Conclusion: T/DHT ratio is an important hormonal criterion, but in some cases, T/DHT ratio may lead to diagnostic confusion. Molecular is for the robust of 46,XY DSD Four novel AR variants were identified in our study., Scientific Research Projects Coordination Unit of Istanbul University

WOS: 000484450300023, PubMed ID: 31236036, Hyperglycemia has become an important risk factor for mortality and morbidity in the neonatal period, especially with increased survival rates of very low birth weight neonates. Hyperglycemia in the neonatal period develops as a result of various mechanisms including iatrogenic causes, inability to supress hepatic glucose production, insulin resistance or glucose intolerance, specifically in preterm neonates. Initiation of parenteral or enteral feeding in the early period in preterm babies increases insulin production and sensitivity. The plasma glucose is targeted to be kept between 70 and 150 mg/dL in the newborn baby. While a blood glucose value above 150 mg/dL is defined as hyperglycemia, blood glucose values measured with an interval of 4 hours of >180-200 mg/dL and +2 glucosuria require treatment. Although glucose infusion rate is reduced in treatment, use of insulin is recommended, if two blood glucose values measured with an interval of 4 hours are >250 mg/dL and glucosuria is present in two separate urine samples.

It is well-known that in children with type 1 diabetes (T1D), the frequency of Celiac disease (CD) is increased due to mechanisms which are not fully elucidated but include autoimmune injury as well as shared genetic predisposition. Although histopathologic examination is the gold standard for diagnosis, avoiding unnecessary endoscopy is crucial. Therefore, for both clinicians and patients’ families, the diagnosis of CD remains challenging. In light of this, a joint working group, the Type 1 Diabetes and Celiac Disease Joint Working Group, was convened, with the aim of reporting institutional data and reviewing current international guidelines, in order to provide a framework for clinicians. Several controversial issues were discussed: For CD screening in children with T1D, regardless of age, it is recommended to measure tissue transglutaminase-immunoglobulin A (tTG-IgA) and/or endomysial-IgA antibody due to their high sensitivity and specificity. However, the decision-making process based on tTG-IgA titer in children with T1D is still debated, since tTG-IgA titers may fluctuate in children with T1D. Moreover, seronegativity may occur spontaneously. The authors’ own data showed that most of the cases who have biopsy-proven CD had tTG-IgA levels 7-10 times above the upper limit. The decision for endoscopy based solely on tTG-IgA levels should be avoided, except in cases where tTG-IgA levels are seven times and above the upper limit. A closer collaboration should be built between divisions of pediatric endocrinology and gastroenterology in terms of screening, diagnosis and follow-up of children with T1D and suspicious CD., NA

Hypoglycemia is one of the most important and most common metabolic problems of the newborn because it poses a risk of neurological injury, if it is prolonged and recurs. Therefore, newborns who carry a risk of hypoglycemia should be fed immediately after delivery and the blood glucose level should be measured with intervals of 2-3 hours from the 30th minute alter feeding. The threshold value for hypoglycemia is 40 mg/dL for the first 24 hours in symptomatic babies. In asymptomatic babies, this value is considered 25 mg/dL for 0-4 hours, 35 mg/dl for 4-24 hours, 50 mg/dL alter 24 hours and 60 mg/dL after 48 hours. Screening should be performed with bed-side test sticks. When values near the limit value are obtained, confirmation with laboratory method should be done and treatment should be initiated, if necessary. The level targeted with treatment is considered 50 mg/dL in the postnatal first 48 hours before feeding, 60 mg/dL after 48 hours in babies with high risk and above 70 mg/dL in babies with permanent hypoglycemia. In cases in which the blood glucose level is below the threshold value and can not be increased by feeding, a glucose infusion of 6-8 mg/kg/min should be initiated. If symptoms accompany, a mini bolus of 10% dextrose (2 ml/kg/min) should accompany. Incements (2 mg/kg/min) should be performed, if the target level can not be achieved and decrements (2 ml/kg/min) should be performed, if nutrition and stabilization is provided. The infusion should be discontinued, if the infusion rate decreases to 3-5 mg/kg/min. If necessary, blood samples should be obtained during hypoglycemia in terms of differential diagnosis and the investigation should be performed following a 6-hour fasting period in babies fed enterally and at any time when the plasma glucose is 60 mg/dL following a 6-hour fast. / Hipoglisemi, uzun sürmesi ve tekrarlaması durumunda nörolojik zedelenme riski nedeniyle, yenidoğanın en önemli ve en sık metabolik sorunlarından birisidir. Bu nedenle, hipoglisemi riski taşıyan yenidoğanlar, doğum sonrası hemen beslenmeli ve beslenme sonrası 30. dakikadan itibaren 2-3 saat aralıklarla kan glukozuna bakılmalıdır. Hipoglisemi eşik değerleri, ilk 24 saat için belirtisi olanlarda 40 mg/dL, belirtisiz olanlarda 0 - 4 saatte 25 mg/dL, 4-24 saat aralığında 35 mg/dL, 24 saatten sonra 50 mg/ dL, 48 saatten sonra ise 60 mg/dL olarak kabul edilebilir. Tarama hastabaşı test çubukları ile yapılmalı, sınıra yakın değerlerde, laboratuvar yöntemi ile doğrulama yapılırken, gerekliyse tedavi başlanmalıdır. Tedavi ile ulaşılması hedeflenen düzeyler, beslenme öncesi postnatal ilk 48 saatte 50 mg/dL, 48 saatten sonra riskli olanlarda 60 mg/dL, kalıcı hipoglisemili olgularda ise 70 mg/dL’nin üstü olarak kabul edilebilir. Kan glukozu eşik değerin altında olan ve beslenme ile yükseltilemeyen durumlarda, 6-8 mg/kg/dk glukoz infüzyonu başlanmalı, belirti eşlik etmesi durumunda ise 2 ml/kg %10 dekstroz minibolus eşlik etmelidir. Hedef düzeye ulaşılamaması durumunda artışlar ve beslenme ile stabilizasyonun sağlanması durumunda azaltmalar 2 mg/kg/dk olarak yapılmalı, infüzyon hızının 3-5 mg/kg/dk’ye inmesi durumunda ise infüzyon sonlandırılmalıdır. Gerekliyse ayırıcı tanı açısından kan örnekleri hipoglisemi sırasında alınmalı ve araştırma, enteral beslenen bebeklerde 6 saatlik beslenmeme periyodu sonrasında, parenteral infüzyon alanlarda ise plazma glukozunun 60 mg/dL olması durumunda taburcu edilebilirler., NA

Amaç: Adolesan döneminde otoimmün tiroiditin patogenezinde Parvovirus B19'un tetikleyici rolü araştırılması amaçlandı.Gereç ve Yöntem: Ağustos 2015-Ağustos 2016 tarihleri arasında, İstanbul Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Genel Pediatri Bilim Dalı'na ve Büyüme Gelişme ve Pediatrik Endokrinoloji Bilim Dalı'nda yapıldı. Çalışmaya 10-18 yaş arası, son 6 ay içinde Hashimoto tiroiditi tanısı alan ve ailelerinden yazılı onam alınan 35 hasta dahil edildi. Parvovirus B19 enfeksiyonu ile ilişkilendirilebilecek akut hastalığı olmayan sağlıklı, fizik muayenede guatr saptanmamış, ailede tiroid hastalığı öyküsü olmayan ve tiroid fonksiyon testleri normal olarak saptanmış, rastgele yöntemle seçilen 35 çocuk kontrol grubu olarak çalışmaya alındı. Hastalık süresi ve seyri ile ilgili bilgi, ek hastalıklar, ilaç kullanımı, döküntülü hastalık, ailede diğer otoimmün hastalıklar sorgulandı, bilgiler kaydedildi.Gönüllülerden Parvovirus IgG, Parvovirus IgM ve Parvovirus PZR için kan örneği alındı. İstatistiksel analizler için SPSS (Statistical Package for Social Sciences) paket programı 21.0 versiyonu kullanıldı. Anlamlılık p

Epilepsi ve onun tedavisinin endokrin sistem üzerine olan etkileri pek çok çalışmacının ilgisini çekmektedir. Çalışmalarda antiepileptik ilaçların hipotalamo-hipofizer ve gonadal aks üzerine etki ettiği bildirilmektedir. Bu çalışma ile antiepileptik ilaçların tiroid ve adrenal fonksiyonlar üzerine etkisinin araştırılması amaçlanmıştır.Bu çalışmada yaşları 3 ay ile14 yaş arasında değişen, fenobarbital (FB), valproik asit (VPA), karbamazepin (KBZ), okskarbazepin (OKZ), topiramat (TPM) ve levelirasetam (LEV) kullanan, 47'si kız ve 59'u erkek toplam 106 epilepsi tanılı çocuk hasta alındı. Bu hastaların klinik ve hormonal verileri retrospektif olarak dosya kayıtlarından elde edildi. Başvuru sırasındaki klinik bulguları yanında, görüntüleme ve EEG bulguları değerlendirilmeye alındı. Başvuru ve izlem sırasında 3,6 ve 9. aylardaki serbest tiroksin(sT4), tiroid situmulan hormon(TSH) ve kortizol düzeyleri tiroid ve adrenal fonksiyonları değerlendirmek için dosya kayıtlarından elde edildi. Klinik ve laboratuar bulguları ile karşılaştırmalar yapıldı.VPA dışındaki antiepileptikleri kullananlarda sT4, TSH, kortizol düzeyleri normal sınırlar içinde ve izlem sırasında da istatistiksel açıdan anlamlı bir değişim gözlenmedi. Buna karşın 9. aydaki izlemde VPA kullananlarda istatistiksel anlamlı TSH yüksekliği bulunmuştur(p=0,007). Ayrıca antiepileptik ilaçların kullanımı serum kortizol düzeyini etkilememiştir. Hastaların elektroensefalografi(EEG) bulguları ile tiroid hormon düzeyleri karşılaştırıldığında EEG'de ağır bozukluğu olan grupta tiroid disfonksiyonu anlamlı olarak sık bulunmuştur(p=0,041). Magnetik rezonans(MR) bulguları ile tiroid hormon düzeyleri karşılaştırıldığında patolojik görüntüleme bulguları olan hastalarda tiroid hormon bozukluğu görülme sıklığı artış göstermemiştir.Çalışmamızda VPA dışındaki antiepileptiklerin kullanımının 9 ay gibi kısa bir dönemde tiroid hormon bozukluğu oluşturmadığı gösterilmiştir. İzlem süresinin uzaması ile fonksiyon bozukluğu ortaya çıkma olasılığının artabileceğini düşünmekteyiz.Çalışmamızın sonuçları ışıgında; antiepileptik ilaç kullanan hastalarda oluşabilecek tiroid disfonksiyonu olasılığına yönelik tiroid hormon düzeyleri özellikle VPA kullanalarda düzenli olarak takip edilmelidir. Ayrıca EEG'de ağır bozukluğu olanlar daha yakından izlenmelidir.Anahtar kelimeler: Epilepsi, antiepileptikler, tiroid hormonları, kortizol. Many researchers are interested in epilepsy and its effects on endocrine system. In some studies, it has been shown that antiepileptic drugs had an effect on hypothalamo-hypophysial and gonadal axis. We aimed to investigate the effects of anti-epileptic drugs on thyroid and adrenal functions in our study.106 children of 47 girls and 59 boys whose ages differed between 3 months and 14 years, taking phenobarbital (PB), valproic acid (VPA), carbamezepin (CBZ), topiramate(TPM) and levericetam (LEV) for epilepsy diagnosis were included in our study. The clinical and hormonal data of these children were collected retrospectively in their hospital file records.Clinical evidence at the time of hospital admissions, imaging and EEG findings were also investigated. During admission and 3, 6 and 9 month follow-up periods, the results of free thyroxin (fT4), thyroid stimulating hormone (TSH) and cortisol levels were collected from the hospital records to evaluate the thyroid and adrenal functions. Clinical and laboratory results were compared.There has been no significant correlation in those taking anti-epileptic drugs except VPA with normal FT4 and cortisol levels. Elevated TSH levels of children taking VPA were statistically significant (p:0,0007) at the time of the 9th month's follow-up. On the other hand, anti-epileptic drug usage had no effects on cortisol levels. When the results of EEG and the thyroid hormon levels compared, there was a significantly increased correlation between serious EEG findings and thyroid disfunction(p:0,041).It was shown no increased correlation between pathological findings of magnetic resonans imaging(MR) and thyroid disfunction.Our study showed that anti-epileptic drugs except VPA didn?t cause any thyroid disfunction in a short time around 9 months. We think existance of thyroid disfunction is probably higher as the follow-up period is expanded.According to our study, thyroid hormone levels should be measured regularly to prevent thyroid disfunction in patients using anti-epileptic drugs, especially in those taking VPA. On the other hand, epileptic patients with severe EEG findings should be followed up frequently.Key words: Epilepsy, anti-epileptics, thyroid hormones, cortisol. 67