AIM: There is no clear consensus on whether a cranial MRI should be performed in all cases of central precocious puberty(CPP). In this study, we aimed at evaluating the incidence of intracranial lesions and analyzing cranial imaging results in females with CPP.METHODS: In the retrospective study medical records of the case, the age at the time of admission, anthropometric measurements, bone age, Tanner stages, serum follicle-stimulating hormone (FSH), serum luteinizing hormone(LH), serum estradiol (E2) levels, the peak LH level during the gonadotropin-releasing hormone (GnRH) stimulation test and the cranial MRI findings at the time of the diagnosis of CPP were collected.RESULTS: The mean age diagnosis of the 154 girls included in the study was 6.9 ±1.08. Nine (5.8%) of 154 patients were diagnosed with organic-caused CPP. Four of the nine cases diagnosed with organic CPP had a previously known CNS pathology. The other five cases did not have any neurological findings at the time of diagnosis. Incidental lesions were detected at cranial MRI of nine of the 145 cases diagnosed with idiopathic CPP. The basal E2, basal LH, basal FSH, peak LH and peak LH/FSH levels of the cases with organic CPP were higher than those with idiopathic CPP.CONCLUSIONS: In our study, approximately 90% of organic CPP due to intracranial lesions were between 6-8 years. Therefore, we believe that cranial imaging should be performed in all females with CPP.

Amaç: Bu çalışmada, Çocuk Acil polikliniğimize kanama öyküsü ile başvuran hastaların demografik özelliklerinin ve etiyolojik nedenlerinin değerlendirilmesi amaçlandı. Gereç ve yöntem: XXX Üniversitesi Çocuk Hastanesi Acil Polikliniğine Ocak 2010-Aralık 2012 tarihleri arasında kanama öyküsü ile başvuran 331 hastanın dosyası retrospektif incelendi. Çalışmaya alınan hastaların yaş, başvuru şikâyetleri, muayene bulguları, cinsiyet, başvuru zamanı, başvuru mevsimi ve kanama etiyolojisi kaydedildi. Bulgular: Hasta grubu 133’ü kız, 198’i erkek olmak üzere toplam 331 hastadan oluşmaktaydı. Yaş aralığı 1-192 ay arasında idi. Çocuk acil polikliniğine başvuran hastalarda en sık burun ve ağız içi kanama tespit edilirken, en az sıklıkta enfeksiyöz trombositopeni saptandı. Diğer etiyolojik nedenler; immün trombositopenik purpura, gastrointestinal sistem kanamaları, faktör eksikliği, Henoch Schonlein Purpurası, Glanzmann trombastenisiydi. Kanama etiyolojisi ile cinsiyet arasında istatistiksel bir anlamlılık olup (p<0,05), erkeklerde kızlara göre daha sık olduğu gözlendi. Hastaların %40,8’lik bir kısmında kanama (ağız, burun), %20,8’lik bir kısmında ise ekimoz muayene bulgusuna rastlandı. Ayrıca purpura ile gelen olgularda en sık etiyolojik neden Henoch Schonlein purpurası, peteşi ve ekimoz ile gelenlerde immün trombositopenik purpura, hemartroz ve hematom ile gelenlerde faktör eksikliği ve solukluk ile gelenlerde ise gastrointestinal sistem kanamaları görüldü. Kanama etiyolojisi ile muayene bulguları arasında istatistiksel bir anlamlılık saptandı. Özellikle Glanzmann trombastenisi, Henoch Schonlein purpurası ve enfeksiyoz trombositopeni tanısı konulan hastalarda ay ve/veya mevsimin hastalıklar üzerine etkisi gözlendi. Sonuç: Çocuk Acil polikliniğine kanama öyküsü ile başvuranlarda acil tetkik ve tedavi gerektiren klinik durumların tespiti açısından, doğru tanıya hızlı bir şekilde ulaşmada demografik özelliklerinin ve etiyolojilerinin tespit edilmesi önemlidir. Bunun sonucunda riskli hastaların erken fark edilmesi ve tedavi planlanması hem morbiditeyi hem de mortaliteyi azaltmada yol gösterici olabilir.

Cyberbullying, a form of cyber violence carried out through digital technologies, poses significant threats to psychological and emotional well-being, especially among children and adolescents. This chapter explores the various types of cyber violence, including harassment, doxxing, cyberstalking, defamation, online blackmail, trolling, flaming, and grooming, highlighting their pervasive nature and the difficulty in addressing them. The rapid digitalization of society and the increased use of social media and online communication platforms have exacerbated the prevalence of cyberbullying, creating complex challenges for prevention and intervention. The chapter also examines the psychological and social impacts on victims, including anxiety, depression, low self-esteem, social isolation, and in severe cases, suicidal tendencies. Furthermore, it discusses the role of digital literacy, legal frameworks, and educational strategies in combating cyberbullying, emphasizing the need for comprehensive and adaptive approaches to protect individuals in the digital age. The chapter concludes by calling for continued research, policy development, and collaborative efforts to create safer online environments.

INTRODUCTION:The luteinizing hormone/choriogonadotropin receptor (LHCGR) plays a critical role in sexual differentiation and reproductive functions in men and women. Inactivating mutations in this gene lead to Leydig cell hypoplasia (LCH), and cause disorders of sex development (DSD) in patients with 46,XY. In this study, it was aimed to discuss the clinical, laboratory and molecular genetic analysis results of nine patients with 46,XY karyotype who had mutations in the LHCGR gene.MATERIALS AND METHODS:The ages, complaints, anthropometric measurements and hormonal results (follicle stimulating hormone (FSH), luteinizing hormone (LH), testosterone) of the patients at the time of admission were recorded retrospectively from their medical records. The mutations in the LHCGR gene were investigated using the Sanger sequencing method.FINDINGS:In this study, LHCGR gene mutations were detected in a total of nine patients as a result of the analysis of the index patients presenting with primary amenorrhea from four different families and the examination of the families. In the first three families with no consanguinity between, the same mutation was detected in seven patients in total (Homozygous c.161 + 4A > G). A different mutation was detected in the fourth family (Homozygous p.A483D c.1448C > A).CONCLUSION:In this study, nine patients with karyotype 46,XY, most of whom presented with the complaint of delayed puberty/primary amenorrhea, were diagnosed with LCH. Especially in patients, in whom the elevation of LH is pronounced and there is no testosterone synthesis, LCH should be considered.

BACKGROUND:There are not enough studies investigating the relationship between obesity and ECG abnormalities in children and adolescents. This study aims to investigate the relationship between obesity and electrocardiographic data in children and adolescents for early diagnosis to prevent arrhythmia or sudden death in later stages of life.PATIENTS AND METHODS:A total of 65 children and adolescents with obesity applied to our pediatric endocrinology outpatient clinic with nonspecific complaints and without any known chronic illnesses; 76 healthy children and adolescents were included in the study. Anthropometric and laboratory data, blood pressure measurements, and 12-lead electrocardiography data of all participants were collected.RESULTS:There was a statistically significant difference between the obese and the control group in terms of triglycerides, total cholesterol, high density lipoprotein, low density lipoprotein levels, and systolic blood pressure. According to electrocardiographic findings, there was a statistically significant difference between the two groups in terms of heart rate (p=0.008), PR duration (p<0.001), left ventricular hypertrophy (p=0.02), P maximum (p=0.04), P dispersion (p<0.001), QRS duration (p<0.001), QT minimum (p=0.007), QT maximum (p=0.03), QT dispersion (p=0.024), QTc minimum (p=0.002), QTc dispersion (p=0.003), Tp-e minimum (p=0.007), and Tpe maximum (p=0.003) variables.CONCLUSIONS:There were significant differences between the electrocardiographic evaluation of obese group compared to the control group in our study, which may be associated with risk of cardiac arrhythmia. These differences require monitorization in terms of cardiac arrhythmia and risk of sudden death. Further studies with longer follow-up time are needed to support the potential clinical outcomes of our findings.

Objective: Due to the hot climate of the Southeastern Anatolia Region, snake poisoning is common, which causes serious mortality and morbidity. We aimed to present the clinical course, complications and treatment approaches of patients hospitalized with snakebites. Methods: One-hundred and eight pediatric patients treated in the hospital for snakebites, excluding dry bite, were included in the study during a 5-year period. Gender, age, bite site, month, time, type of intervention in the field, symptoms, laboratory findings, complications, tetanus vaccination and antivenom administration were recorded by reviewing patient files. Results: The patients were aged between 10.2+3 (2-15) years and 72 (66.7%) were males. Seventy-three (67.6%) of patients were from rural areas. The bites were mostly from the lower extremity, at between 12-18 o’clock. Grade 1 patients were excluded from the study. At the time of admission, there were 47 (43%) grade 2 and 31 (28%) grade 3 patients. It was observed that with increased grade, higher levels of white blood cell count, glucose level and hospital stay were seen (p<0.01), and the grade increased as the hospital admission time increased (p:0.024). A negative correlation was found between the length of hospital stay and the platelet level (p=0.016). The most common complications were tissue necrosis (13%) and compartment syndrome (9.2%). There was a positive correlation between grade and compartment syndrome (P=0.001). Antivenom was administered to 80 (74%) of patients. Conclusion: Patients with snakebite poisoning should be transferred to the nearest emergency room quickly so that the management can be carried out in a timely manner. The signs of poisoning can affect not only the bitten area, but also all systems, causing multi-organ failure and even death. Therefore, patients should be frequently evaluated in terms of systemic findings. The efficacy of treatment is enhanced by aggressive supportive care and rapid administration of appropriate neutralizing antivenom.

Purpose: To determine the effect of abnormal glucose metabolism on the cornea, lens, anterior chamber volume (ACV), and anterior chamber depth (ACD) in children with poorly-controlled type 1 diabetes mellitus (DM) without diabetic retinopathy (DR). Methods: After the complete ophthalmologic examination of children with poorly-controlled (glycosylated hemoglobin [HbA1c] >7.0 %) type 1 DM without DR and age-matched healthy subjects (control group), the central corneal thickness (CCT), keratometry (K) values (Kmean front and back, and Kmax), radius (R) values (Rmin front and back), corneal volume (CV), ACD, ACV, pupil diameter, mean lens density (MLD), lens density standard deviation (LD SD), and maximum lens density (LD max) were measured using Pentacam High Resolution. Endothelial cell density was measured using a specular microscope. The results were assessed and compared between the two groups. Results: There were 60 patients (38 boys and 22 girls) in the DM group and 30 (14 boys, 16 girls) in the control group. There were considerable differences between the groups in terms of CCT, CV, ACD, MLD, LD SD and LD max, and Kmean back. Further, there was a positive correlation between HbA1c and MLD, LD SD, CV, and CCT in patients with DM. Conclusion: The results of our study demonstrate that poorly-controlled type 1 DM without DR affects the cornea, ACD, and LD based on anterior segment measurements taken with a Scheimpflug camera. CCT, CV, LD SD, and MLD values may be parameters that can be used to follow-up patients with type 1 DM.

17α-hydroxylase enzyme deficiency is a rare form of congenital adrenal hyperplasia (CAH) and is caused by mutations in the CYP17A1 gene. The main clinical findings are delayed puberty and primary amenorrhea in girls, and disorders of sex development in boys. It can also cause hypertension and hypokalemia in both genders. In this study, we aimed to present the clinical, laboratory and genetic results of 13 patients from eight different families who were diagnosed with complete 17α-hydroxylase enzyme deficiency. The age, symptoms, anthropometric measurements, blood pressure, Tanner stages, and hormonal and chromosome analysis results at the time of admission were recorded from the medical records of the patients. Whole gene next-generation sequencing of CYP17A1 gene was performed to detect mutations. Multiplex ligation dependent probe amplification (MLPA) method were used to detect deletions in the seven patients who had no point mutation were detected in the CYP17A1 gene. The average age of the patients at the time of admission was 14.8 (range: 12.9–16.6) years. Also at this time, all patients were in adolescence and were raised as females. The karyotypes of eight patients were 46,XY, and of five patients were 46,XX. Ten patients presented with delayed puberty and primary amenorrhea, one patient with delayed puberty and hypertension, and two patients with hypertension and/or hypokalemia. Hypertension and hypokalemia were detected in nine and seven patients, respectively. P450c17 enzyme deficiency should be considered in patients presenting with delayed puberty or primary amenorrhea in the adolescence period and diagnosed with hypergonadotropic hypogonadism, if hypertension and hypokalemia accompany. Early diagnosis prevents the occurrence of important health problems such as hypertension, psychological problems, and gender identity disorders, which affect the majority of these patients.

Objective: The aim of this study was to measure serum lipid levels and epicardial adipose tissue thickness in patients determined with subclinical hypothyroidism. Methods: The study included 61 paediatric patients with a diagnosis of subclinical hypothyroidism and a control group of 61 healthy children. The thyroid hormone levels, lipid parameters and epicardial adipose tissue thickness were examined in all the patients. Results: The mean epicardial adipose tissue thickness of the subclinical hypothyroidism patients was higher than that of the control group but not at a level of statistical significance (4.15 +/- 0.91 vs 4.06 +/- 0.99, p=0.598). The mean high-density lipoprotein cholesterol level of the subclinical hypothyroidism group was statistically lower than that of the control group (p=0.040). Conclusion: The results of this study showed a significant decrease in the high-density lipoprotein cholesterol levels of children with subclinical hypothyroidism. No significant increase was seen in the epicardial adipose tissue thickness of the children with subclinical hypothyroidism. This is the first study to have examined epicardial adipose tissue thickness in children with subclinical hypothyroidism.

Introduction Leydig cell hypoplasia (LCH) is an autosomal recessive disease that causes 46, XY sex development disorder. The patients with LCH are usually in the female phenotype and are presented with the complaints of no breast development and primary amenorrhea. In this article, the cases of three siblings who presented with primary amenorrhea and who had LCH were presented. Case A 16-year-old patient with female phenotype is presented with primary amenorrhea. Breast development was at Tanner stage 1, the external genitalia were completely in female phenotype. The karyotype was determined as 46, XY. The hormonal analyses revealed that the testosterone synthesis was insufficient despite the high level of luteinizing hormone (LH). Cortisol, ACTH, 17-Hydroxyprogesterone, and AMH levels were normal. LCH diagnosis was considered in the patient with elevated LH and no testosterone synthesis. A new mutation of homozygous c.161 + 4A > G was detected inLHCGRgene. The same mutation was detected in the patient's two siblings with female phenotype and 46, XY karyotype. Conclusion In patients presenting with primary amenorrhea and karyotype 46, XY, there is no testosterone synthesis and if there is LH elevation, LCH should be considered. We found a novel variant in theLHCGRgene in three siblings with karyotype 46, XY and female phenotype.

Subclinical hypothyroidism (SH) may influence both ventricular functions. The aim of this study was to evaluation the findings of Tissue Doppler Imaging (TDI) and other echocardiography modalities in children with SH. We compared left ventricular mass index (LVMI) and TDI parameters of patients with SH and children with euthyroidism. Subclinical hypothyroidism was diagnosed when thyroid stimulating hormone level was higher than the reference value of the laboratory (> 4.2 mIU/L) and free thyroxine level was in normal range. The study included a group of 35 patients with SH and a control group of 38 children with euthyroidism (mean age was 7.6 ± 3.5 years and 9.0 ± 2.4 years, respectively). LVMI was significantly higher in the patient group (p = 0.005). TDI parameters including mitral septal ejection time was lower (p = 0.003) and mitral septal myocardial performance index was higher (p = 0.009) in the patient group. Right ventricular TDI revealed that tricuspid lateral E/Ea and tricuspid septal E/Ea were higher (p = 0.015 and p = 0.024, respectively) and tricuspid septal Ea/Aa and ejection time were lower (p = 0.018 and p = 0.017, respectively) in the patient group. SH may lead to increase LVMI. Left ventricular systolic and diastolic TDI parameters (lower mitral septal ejection time, higher mitral septal myocardial performance index) as well as right ventricular systolic (lower tricuspid septal ejection time) and diastolic (higher tricuspid septal and lateral E/Ea, lower tricuspid septal Ea/Ea) functions may be also impaired in children with subclinical hypothyroidism. TDI is a useful method used for the assessment of the effect of SH on cardiac functions.

Objective This study aims to determine the frequency and prognostic significance of lactic acidosis in children with diabetic ketoacidosis (DKA) admitted to the pediatric intensive care unit. Methods The study was carried out retrospectively by examining the patients admitted to the pediatric intensive care unit for the treatment of DKA. The ages of the patients ranged from 2 to 18 years. The patients with the following parameters were enrolled in the study: serum blood glucose>200 mg/dL, ketonuria presence, venous blood gas pH ≤7.1, bicarbonate <15. Results A total of 56 patients were included in the study with a mean age of 111.07 ± 51.13 months. The recovery time from DKA was 16.05 ± 6.25 h in the group with low lactate level and it was 13.57 ± 8.34 h in the group with high lactate level with no statistically significant difference. There was a negative correlation between lactate levels and the recovery time from DKA. Conclusion Lactic acidosis is common in DKA, and unlike other conditions, such as sepsis, it is not always a finding of poor prognosis that predicts the severity of the disease or mortality. We think that high lactate may even protect against possible brain edema-cerebral damage in DKA.

Persistent Müllerian duct syndrome (PMDS) is characterized by the persistence of Müllerian structures in male with normal phenotype. Most cases occur as a result of mutations in the anti-Müllerian hormone (AMH) or AMHR2 genes. In this study, we aim to discuss the results of clinical, laboratory, and molecular genetic analysis of cases detected to have AMHR2 gene mutation. A total of 11 cases from 6 families were included in the study. AMHR2 gene mutation analyses were performed by sequencing of the coding exons and the exon–intron boundaries of the genes. The American College of Medical Genetics guidelines were used for the classification of the detected variants. Six of the 11 cases were admitted due to bilateral undescended testes and five cases due to inguinal hernia (three transverse testicular ectopia and two hernia uterus inguinalis). All cases had normal AMH levels. Seven different variants were identified in the six families. The variants detected in four cases were considered novel (c.78del, c.71G > A, c.1460dup, c.1319A > G). Two of the novel variants were missense (exon 2 and exon 10) mutations, one was deletion (exon 2), and one duplication (exon 11). We identified four novel mutations in the AMHR2 gene resulting in PMDS. Duplication mutation (c.1460dup) in the AMHR2 gene causing PMDS was demonstrated for the first time. The most important complications of PMDS are infertility and malignancy. Early diagnosis is vital to preventing malignancy. Vas deferens and vascular structures may be injured during orchiopexy. Therefore, patients should always be referred to experienced clinics.

Objective: Turner syndrome is a genetic disease that develops as a result of the loss or structural defect of one of the X chromosomes and is seen in every 2500 births. Turner syndrome affects many systems. In this study, it was aimed to evaluate the clinical characteristics of our TS cases and the frequency of accompanying abnormalities. Methods: The files of patients diagnosed with TS between January 2013 and January 2020 in The Pediatric Endocrinology outpatient clinic were retrospectively analyzed. Anthropometric measurements, karyotype analysis, admission age, complaints, accompanying cardiac, renal problems, hearing problems, and autoimmune disease were recorded from the file records. Results: Twenty-eight patients with an average age of 9,83 ± 3,81 were included in the study. Karyotype analysis 45, X0 was detected in 13 (46.4%) of twenty-eight patients. The mean height SDS of the patients at admission was -3,61 ±1,17. In twenty-eight cases, cardiac pathology was detected in 8 (28.6%), Horseshoe kidney anomaly in 3 (10.7%), Hashimoto disease in 3 (10.7%), and alanine-transaminase elevation in 2 (7.1%). Eight (42.1%) of 19 patients whose hearing was evaluated had conductive hearing loss. The puberty of 27 patients at diagnosis was Tanner stage 1, in one case, it was found that puberty started spontaneously and had menarche. All patients presented with short stature. Conclusion: The two most signs of Turner syndrome are short stature and delayed puberty. Apart from this, it affects many systems such as heart and kidney diseases, gastrointestinal and hearing problems, and an increase in the frequency of autoimmune diseases. Early diagnosis is very important in order to achieve a better final height and prevent complications related to concomitant pathologies. This study showed that the absence of cardinal findings such as short stature and hypergonadotropic hypogonadism in children would not rule out the diagnosis of Turner syndrome.

Amaç: Çalışmamızın amacı, Tip 1 Diyabetes Mellitus (T1DM) tanısı alan çocuklarda ilk başvuru bulgularının neler olduğunu belirlemektir. Yöntemler: Bu çalışma 2013-2016 yılları arasında Dicle Üniversitesi Tıp Fakültesi Çocuk Endokrinoloji ve Çocuk Acil polikliniğine başvuran yeni T1DM tanısı 142 çocuk hasta incelenerek gerçekleştirildi. Retrospektif olarak dosyalardan hastaların sosyodemografik özellikleri, semptom ve laboratuvar bulguları kaydedildi. Elde edilen tüm veriler istatiksel olarak değerlendirildi. Bulgular: Çalışmada yer alan çocukların 62’si (%43,66) kız idi. Yaş ortalaması 10,10±1,39 yıl idi. Tanı anındaki kan glikoz düzeyi 425,85±12,51 mg/dl, HbA1c %13,57±3,77 olarak saptandı. Olguların %47,8’inde glutamat dekarboksilaz antikoru pozitifliği tespit edildi. Hastaların %18,3’ünde ailede T1DM hikayesi mevcuttu. Hastalar en çok Ocak ayında (%12,6) ve Kasım ayında (%11,9) tanı aldı. Olguların %83,8’inde hem poliüri hem de polidipsi bulunurken, %41,5 olguda bilinç düzey değişikliği ve %6,3 olguda da koma mevcuttu. Başvuru sırasında hastaların %43’ünde ketoasidoz mevcut iken, %48,5’inde ketozis, %8,5’inde ise sadece hiperglisemi mevcuttu. Sonuç: Tip 1 DM daha çok adolesan dönemde izlenmektedir. Hastalığın en sık başvuru semptomları poliüri ve polidipsidir. Bu nedenle toplumun poliüri ve polidipsinin T1DM bulguları olabileceği yönünde eğitilmesi gerekmektedir. Toplumun bu konuda bilinçlendirilmesi diyabetin en önemli komplikasyonu olan diyabetik ketoasidoz sıklığının azaltabilir.

46, XX Testiküler bozukluk, fenotipi erkek olan bir bireyde karyotip analizinin 46,XX olmasıyla karakterize oldukça nadir görülen bir bozukluktur. Puberte sonrası jinekomasti, küçük testisler ve azospermiye bağlı sterilite görülebilir, ancak penis boyu ve pubik kıllanma genellikle normaldir. Olgularda nadiren dış genital yapının yetersiz virilizasyonu; hipospadias, inmemiş testis, ya da ambigius genitaleye kadar değişen bulgular görülür. Kısa boy ve normal zihinsel gelişim 46, XX testiküler bozukluğun diğer klinik özellikleridir. On üç buçuk yaşında erkek hasta memede büyüme şikayeti ile polikliniğimize başvurdu. Fizik muayenesinde, boy kısalığı (10. Persantil), jinekomasti ve küçük testisler mevcuttu. Laboratuvar incelemesinde LH:24.32 mIU/ml, FSH:34.26 mIU/ml, Estradiol:34.53 pg/ml, Total Testosteron:1.62 ng/ml saptanması üzerine hastadan karyotip analizi istendi ve 46 XX olarak rapor edildi. SRY gen analizinin pozitif olması ile hastaya 46, XX testiküler cinsel gelişim bozukluğu tanısı kondu. Puberte döneminde jinekomasti ile başvuran olgularda hipergonadotropik hipogonadizm saptandığında kromozom analizinin yapılmasının önemini vurgulamak için bu olgu sunuldu.

INTRODUCTION : Congenital hypothyroidism (CH) is still the most common cause of mental retardation. ln this study, etiology, laboratory findings, treatment doses, durations of permanent and transient CH cases were compared. METHODS: 106 patients (42 female, 64 male) who had been treated for CH for at least 3 years were included. Patients’ files were retrospectively scanned. TSH, FT4, FT3, height, weight and treatment doses, findings at the first time of diagnosis, first, second, and third year of treatment and 4-6 weeks after the treatment was ended, were noted. RESULTS: Permanent CH was found in 41.5% of patients and transient CH was found in 58.5% of patients. The most common cause of permanent hypothyroidism was thyroid dysgenesis (34%). dyshormonogenesis (38.7%) was the most frequent cause in patients with transient CH. The most common symptoms were hyperbilirubunemia and constipation. 27 % of the patients were referred to the outcome screening program and 27% of the patients were visited for routine control. Serum TSH, FT4 and FT3 levels at diagnosis were not significantly different between the groups (p = 0.955, p = 0.532, p = 0.23). The level of thyroglobulin was significantly higher in the transient CH group (p =0,026). FT3 levels of patients with permanent CH were significantly lower during follow-up.( p= 0.003, p = 0.017, p = 0.032). CONCLUSION: In our study, it is found that the ratio of transient CH is higher and most of the transient cases were attributed to dyshormonogenesis. It is shown that the thyroid hormone levels at the time of diagnosis is not significantly different in the differential diagnosis of permanent and transient CH. However, it is concluded that the need for higher dose in the treatment during follow up and the higher TSH levels, and the lower fT3 levels can be used in diagnosis of permanent CH.

Corresponding author / Sorumlu yazar: Edip Unal Address / Adres: Dicle Üniversitesi Tıp Fakültesi, Çocuk Endokrinolojisi Anabilim Dalı, Sur, Diyarbakır, Türkiye e-Mail: edip76@yahoo.com ⸺ Informed Consent: The authors stated that the written consent was obtained from the parents of the patient presented in the study. Hasta Onamı: Yazar çalışmada sunulan hastanın ebeveyinlerinden yazılı onam alındığını ifade etmiştir. ⸺ Conflict of Interest: No conflict of interest was declared by the authors. Çıkar Çatışması: Yazarlar çıkar çatışması bildirmemişlerdir. ⸺ Financial Disclosure: The authors declared that this study has received no financial support. Finansal Destek: Yazarlar bu çalışma için finansal destek almadıklarını beyan etmişlerdir. ⸺ Published: 4/22/2019 Yayın Tarihi: 22.04.2019

Aims: 17 alpha-hydroxylase deficiency is a rare form of congenital adrenal hyperplasia (CAH) which is inherited autosomal recessive. It occurs result of a mutations in gene cytochrome (CYP)17A1, which encodes both 17 alpha-hydroxylase and 17,20-lyase enzymes. The main clinical findings of the disease are delayed puberty, primary amenorrhea in females, and disorders of sex development (DSD) in males. Also, hypertension and hypokalemia can be seen in both sexes. In this paper, we describe the clinical and genetic changes of two patients with 46,XY and 46,XX karyotypes from two different families who were diagnosed with complete 17 alpha-hydroxylase enzyme deficiency. Methods: In this study various methods including clinical, hormonal, radiological and genetic analyzes were used. Blood samples were obtained for genetic tests. Genomic DNA was extracted from peripheral blood leukocytes, and coding sequence abnormalities of the CYP17 gene were assessed by polymerase chain reaction and direct sequencing analysis. Results: 17 alpha-hydroxylase deficiency was diagnosed in 2 patients with 46,XX and 46,XY karyotype who presented with hypertension and delayed puberty. The pQ80 * (c.238C > T) mutation detected in both cases was evaluated as a novel variant.

Amaç: Bu çalışmada, obez çocuk ve adölesanlarda tiroid fonksiyonları ile metabolik ve antropometrik parametreler arasındaki ilişkinin değerlendirilmesi amaçlanmıştır. Yöntemler: Çalışmaya pediatrik endokrinoloji polikliniğinde eksojen obezite tanısı konulan 147 hasta ile benzer yaş ve cinsiyette 46 sağlıklı birey alındı. Obez hastalar Grup 1 (karaciğerde yağlanma olmayan) ve Grup 2 (karaciğerde yağlanma olan) olarak iki gruba ayrıldı. Hasta ve kontrol grubundaki (Grup 3) tüm vakalardan açlık glukoz, insülin, total kolesterol, trigliserid, aspartat aminotransferaz, alanin aminotransferaz, tiroid uyarıcı hormon (TSH), serbest triiyodotironin (fT3) ve serbest tiroksin (fT4) için örnek alındı. İnsülin direnci HOMA-IR (Homeostatic Model Assesment for Insulin Resistance) ile değerlendirildi. Bulgular: Grup 2’de bel çevresi (BÇ), beden kitle indeksi - standart deviasyon skorları (SDS), kalça çevresi (KÇ), BÇ/KÇ oranı ile trigliserid, açlık insülin ve HOMA-IR değerleri Grup 1 ve Grup 3’e göre anlamlı derecede yüksek iken yüksek dansiteli lipoprotein kolesterol düzeyi daha düşük idi. Obezitesi olan gruplarda (karaciğerde yağlanma olan ve olmayan) fT4 düzeyi kontrol grubuna göre anlamlı düzeyde düşük iken fT3/fT4 oranı daha yüksek idi. Ortalama TSH düzeyi Grup 2’de Grup 3’e göre daha yüksek saptandı. fT3/fT4 oranı; BÇ, BÇ/KÇ oranı, açlık insülin ve HOMA-IR ile pozitif korelasyon göstermekteydi. Sonuç: Obez çocuklarda fT4 düzeyinin düşük olduğu, fT3/fT4 oranının ise daha yüksek olduğu tespit edilmiştir. Obez çocuklarda yüksek fT3/fT4 oranının saptanması durumunda bu oranın BÇ ve insülin direnci ile pozitif korelasyon gösterdiği düşünülerek visseral yağ dokusuyla ilişkili komplikasyonlar konusunda klinisyen için uyarıcı olmalıdır.