Association Between Apolipoprotein E Polymorphism and Subclinic Atherosclerosis in Patients with Type 1 Diabetes Mellitus

Objective The most important cause of morbidity and mortality in type 1 diabetes mellitus (DM) is atherosclerosis. Apolipoprotein E (Apo E) polymorphism is accused of being the genetic risk factor for atherosclerosis. The aim of the present study was to determine which Apo E polymorphism was related to atherosclerosis in patients with type 1 DM

Evaluation of Electrocardiographic Markers for the Risk of Cardiac Arrhythmia in Children with Obesity

Aim:This study was conducted to examine the electrocardiographic markers used in the risk assessment of cardiac arrhythmia in children with obesity.Materials and Methods:In this prospective study, 60 children aged 3-17 years with exogenous obesity and 60 age and sex-matched healthy controls were included. Demographic data, assessment of atrial and ventricular arrhythmia risk markers in electrocardiography, and standard echocardiography measurements were performed. Values of p<0.05 were considered significant.Results:The mean ages of the study and control groups were 11.51±3.48 years and 10.74±3.72 years, respectively. Both groups had 30 males and 30 females. The study group had significantly higher average mean body mass index (BMI) compared to the control group. In electrocardiographic examinations, P-wave dispersion, QT dispersion (QTd), corrected QTd (QTcd), Tpeak-Tend (Tp-e), Tp-e/QT, and Tp-e/QTc values were significantly higher in the obese group compared to the control group. In echocardiographic examinations, the dimensions of the heart chambers and vascular structure and wall thicknesses were found to be significantly higher in those children with obesity.Conclusion:The electrocardiographic risk markers used to predict cardiac arrhythmias were found to be increased in those children with obesity. This may suggest that increased body weight and adiposity may have unfavorable effects on the cardiac conduction system

Yeni başlangıçlı Tip 1 Diyabet ile Akut Hepatit B Muhtemel İlişkisi: Olgu Sunumu

Tip 1 diyabet gelişiminde esas faktör pankreasın beta hücrelerinin genetik ve çevresel nedenlerle tahribatıdır. Virüslerin tip 1 diyabetin tetiklenmesinde rol oynadığı bilinmektedir. Hepatit B virusu otoimmünite ile ilişkilidir. Bu yazıda Hepatit B virusünün tetiklediği tip 1 diyabet'li bir vaka sunulmuştur.Type 1 diabetes (T1D) results from the destruction of pancreatic beta cells, and genetic and environmental factors are believed to be the major components in the development of the disease. Viruses have long been suspected to contribute to the onset of T1D. Hepatitis B (HBV) is associated with the development of autoimmunity. We describe a case of type 1 diabetes that was triggered by HBV

Investigation of the relationship between serum sclerostin and dickkopf-1 protein levels with bone turnover in children and adolescents with type-1 diabetes mellitus

Objectives Diabetes mellitus (DM) is widely known to have a detrimental effect on bone health and is associated with increased fracture risk. Recently, the Wnt/beta-catenin signaling pathway and its inhibitors sclerostin and dickkopf-1 (Dkk-1) were found to be involved in the control of bone mass. The present study aimed to measure serum sclerostin and Dkk-1 protein levels in children and adolescents with type-1 DM and compare with other bone turnover markers and bone mineral density (BMD). Methods This study was performed on 40 children and adolescents with type-I DM and 40 healthy children and adolescents. Anthropometric measurements and pubertal examination were done. In addition to laboratory analysis, dickkopf-1, sclerostin, cross-linked N-telopeptides of type I collagen (NTx), bone alkaline phosphatase (bALP), and osteocalcin levels were studied. BMD of the participants was measured by calcaneus ultrasonography. Results Dickkopf-1 levels of the children and adolescents with type-1 DM were significantly higher, vitamin D, NTx, osteocalcin, and phosphorus levels were significantly lower than those of the controls (p<0.001). Fasting blood glucose, HbA1c, and insulin were significantly higher in the type 1 DM group (p<0.01). Conclusions Both bone remodeling and its compensatory mechanism bone loss are lower in children and adolescents with type-1 DM than in the controls. Also, higher levels of Dkk-1 play a role in decreased bone turnover in these patients. Since Dkk-1 and sclerostin seem to take a role in treating metabolic bone diseases in the future, we believe that our findings are significant in this respective

Common Obesity Syndromes in Childhood

Sendromik obezite farklı gen ya da kromozom bozukluklarıyla ortaya çıkar. Obeziteye dismorfik bulgular, mental retardasyon ve gelişimsel anomaliler eşlik eder. Prader-Willi sendromu, Bardet-Biedl sendromu ve Alström sendromu klinik pratikte en sık karşılaşılan obezite sendromlarıdır. Prader-Willi sendromu hipotoni, hiperfaji, hipogonadizm ve boy kısalığı ile karakterize genomik imprinting hatasından kaynaklanan bir obezite sendromudur. Bardet-Biedl sendromu retinal distrofi, trunkal obezite, postaksiyel polidaktili, öğrenme güçlüğü, renal anomaliler ve erkeklerde hipogonadotropik hipogonadizm ile karakterize otozomal resesif geçişli, genetik olarak heterojen bir siliopati sendromudur. Alström sendromu ilerleyici kon-rod distrofisine, obezite ve sensörinöral işitme kaybının eşlik ettiği çoklu organ tutulumu ile karakterize, otozomal resesif geçişli bir sendromdur. Ekzojenik ve monojenik obezitelerin dışlandığı durumlarda sendromik obeziteye yaklaşırken hormonal değerlendirmenin yanında hasta ek dismorfik özellikleri, oftalmolojik, dental, kardiyak, renal, nörolojik sistem yönünden de değerlendirilmelidir. Tanının doğrulanması ve aileye genetik danışmanlık hizmeti verilebilmesi için genetik tanı yöntemlerinden yararlanılmalıdır.Syndromic obesity occurs with different genetic or chromosomal disorders. Obesity is accompanied by dysmorphic features, mental retardation and developmental abnormalities. Prader-Willi syndrome, Bardet-Biedl syndrome and Alstr&ouml;m syndrome are the most commonly encountered obesity syndromes, in clinical practice. Prader-Willi syndrome is an obesity syndrome, characterized by hypotonia, hyperphagia, hypogonadism and short stature due to genomic imprinting defect. Bardet-Biedl syndrome is a genetically heterogeneous ciliopathy syndrome caused by autosomal recessive genes, characterized by retinal dystrophy, truncal obesity, postaxial polydactyly, learning difficulties, renal anomalies, and hypogonadotropic hypogonadism only in males, Alstr&ouml;m syndrome is an autosomal recessive syndrome, characterized by progressive cone-rod dystrophy, obesity and sensorineural hearing loss accompanied by multi-organ involvement. If exogenous and monogenic obesity is excluded, not only hormonal evaluation but also additional dysmorphic features, ophthalmic, dental, cardiac, renal, and neurological systems should also be evaluated to approach syndromic obesity. Genetic diagnostic analysis should be utilized for confirming the diagnosis and providing genetic counseling to families

Long Term Monitoring of Patients with Type 1 Diabetes Mellitus: A Single Center Experience

Amaç: Tip 1 diyabetes mellitus (DM) çocukluk yaş grubunda sık görülen, pankreasın beta hücrelerinin tahrip olması sonucu gelişen insülopeni ve hiperglisemi ile karakterize kronik metabolik bir hastalıktır. Çalışmada, Tip 1 DMli hastaların klinik ve laboratuvar bulgularının değerlendirilmesi ve bulguların literatür eşliğinde tartışılması amaçlanmıştır. Gereç ve Yöntemler: Bu çalışma 2010-2013 Ocak tarihleri arasında Pediatrik Endokrinoloji Kliniğinde takip edilen, Tip 1 DMli 162 hastanın değerlendirildiği tanımlayıcı kesitsel bir araştırmadır. Bulgular: Çalışmamıza 162 hasta dahil edildi (Yaş ortalaması 12.3 4.2 yıl). Olguların ortalama diyabet süresi 3.92.3 yıl, son 1 yıldaki ortalama Hba1c değerleri%9.74 2.5di. Tip 1 DMye ek olarak olguların % 6.7sinde (n11) çölyak hasta- lığı , %18.52inde (n30) de otoimmüntiroid hastalığı mevcuttu. Olguların %9.2sinde (n15) hipertansiyon, %7. 4ünde (n12) dislipidemi saptandı. Mikrovasküler komplikasyon olarak % 6.1inde (n10) 24 saatlik idrarda mikroalbüminüri, %15.4ünde (n25) EMGde sinir ileti hızında yavaşlama tespit edildi. Sonuç: Tip 1 DMli hastaların izleminde eşlik edebilecek otoimmün hastaların tespiti ve diyabete bağlı gelişebilecek komplikasyonların erken dönemde saptanması ve koruyucu önlemlerin alınması hastaların hayat kalitesinin arttırılması açısından önemlidir.Objective: Type 1 diabetes mellitus (DM) is a chronic metabolic disease of childhood characterized by insulin insufficiency and hyperglycemia due to the destruction of the beta cells of the pancreas. The aim of this study was to determine the laboratory and clinical characteristics of patients with type 1 diabetes mellitus and to compare the findings with the literature. Material and Methods: This is a descriptive study of 162 patients with type 1 diabetes mellitus followed by the Pediatric Endocrinology department between January 2010 and 2013. results: A total of 162 patients were included in this study (mean age, 12. 3 ±4. 2 years). The mean duration of diabetes was 3.89 ± 2.3 years and mean HbA1c was 2.5 ± 9.74%. In addition to Type 1 DM, 6.7% of cases (n 11) had celiac disease and 18.52% of the cases (n 30) had autoimmune thyroid disease. Hypertension was present in 9.2% of the cases (n 15) while 7.4% (n 12) had dyslipidemia. We found had 24-hour urine microalbuminuria in 6.1% of the cases (n 10) and decreased EMG nerve conduction velocity in 15.4% of the cases (n 25). conclusion: It is important to detect any concurrent autoimmune disorders and diabetes-related potential complications in the early stages and to take preventive measures to increase the quality of life during follow-up of patients with Type 1 DM

Endokrinoloji Polikliniğine Puberte Bulguları ile Başvuran Olguların Etiyolojik Dağılımı ve Klinik Özellikleri

Amaç: Çalışmamızda ergenlik bulgularının başlaması şikayeti ile başvuran kız hastaların etiyolojik nedenlere göre değerlendirilmesi ve bulguların literatür eşliğinde tartışılması amaçlanmıştır.Gereç ve Yöntemler: Çocuk Endokrinolojisi polikliniğine başvuran 96 kız hasta çalışmaya dahil edildi. Hastaların antropometrik ölçümleri, puberte durumları değerlendirildi. Erken puberte şüphesi olan hastaların değerlendirilmesinde Folikül stimüle edici hormon (FSH), Lüteinize edici hormon (LH), estradiol (E2), dehidroepiandrosteron sülfat (DHEA-SO4), 17 hidroksiprogesteron (17OHP) değerleri, luteinize edici hormon releasing hormon (LHRH) uyarı testi sonuçları kullanıldı. Yapılan kemik yaşı değerlendirilmesi, pelvik ultrasonografi sonuçları kaydedildi.Bulgular: Hastaların yaş ortalaması 8.38 ±1.72 yıldı. Hastaların % 14.6’sında (n=14) prematüre telarş,% 4.2’sinde (n=4) prematüre pubarş, %3.1’inde (n=3) prematüre menarş, %8.3’ünde (n=8) erken puberte tespit edildi. Normalin varyantı pubertal gelişim hastaların %21.9’unu (n=21) oluşturmaktaydı. Başvuran olguların %46.9’u (n=45) normal pubertal gelişime,% 22.9’u (n=22) sekiz yaşın üzerinde pubertal gelişimde hızlanmaya sahipti. %21.9 (n=21) hastada pubertal gelişim atipik başlangıçlıydı.Sonuç: Günümüzde puberte bulgularının başlama yaşının düşmesiyle endokrinoloji kliniklerine başvuru artmıştır. Başvuruların çoğunu ise normal puberte varyantları oluşturmaktadır. Bu çalışma ile hastaların tanı aşamasında iyi değerlendirilmesini vurgulamak istedik.Anahtar Sözcükler: Erken puberte, KızAbstractObjective: In our study we aimed to evaluate the findings of female patients presenting with a complaint of the onset of puberty according to the etiological factors and to discuss the findings in the literature.Material and Methods: Ninety-six girls presenting to the pediatric endocrinology clinic patients were enrolled in the study. Anthropometric measurements and pubertal status of the patients were evaluated. In the evaluation of patients with suspected early puberty, follicle stimulating hormone (FSH), Luteinising Hormone (LH), estradiol (E2), dehydroxyepiandrostenedione sulfate (DHEA-SO4), 17-hydroxyprogesterone (17OHP) levels, and luteinizing hormone releasing hormone (LHRH) stimulation test results were used. The bone age and pelvic ultrasound results were recorded.Results: The mean age of the patients was 8.38 ± 1.72 years. We found premature thelarche in 14.6% of the patients (n = 14), premature pubarche in 4.2% (n = 4), premature menarche in 3.1% (n = 3), and precocious puberty in 8.3% (n = 8) while 21.9% (n = 21) were normal variants of pubertal development. 46.9% of admitted patients (n = 45) had normal pubertal development, 22.9% (n = 22) had an acceleration in pubertal development over eight years. 21.9% (n = 21) of patients had atypic pubertal development.Conclusion: The decrease in the age of the onset of puberty has increased applications to the endocrine clinic. Most of the applications are normal variants of puberty. We wanted to highlight the good diagnostic evaluation of these patients in this study.Key Words: Precocious puberty, Girl</p

Familial Testotoxicosis: A Case Report

Ailevi Testotoksikoz LH reseptöründe aktive edici mutasyon nedeniyle testislerin otoaktivasyon kazanması sonucu or- taya çıkan gonodotropin bağımlı olmayan yalancı erken puberte nedenidir. 2 yaş 3 aylık erkek hasta, kliniğimize genital bölgede kıllanma şikayetiyle başvurdu. Babada ve babanın erkek kuzenlerinde erken puberte öyküsü mevcuttu. Cilt ve sistem muayeneleri normal olan hastanın testis hacimleri bilateral 4 ml, gerilmiş penis boyu 4.5 cm, pubik kıllanması Tan- ner evre 2di. Testosteron seviyeleri pubertal düzeyde olmasına rağmen bazal ve uyarılmış LH seviyeleri prepubertaldi. Hasta aile öyküsü ile birlikte değerlendirildiğinde klinik ve biyokimyasal olarak ailevi testotoksikoz tanısı aldı. Olgu nadir görülmesi nedeni ile sunuldu.Testotoxicosis arises from testicular autoactivation due to LH receptor activating mutations and is a cause of false gonadotropin-independent precocious puberty. A male child aged 2 years and 3 months was admitted to our clinic with pubic hair in the genital area. He had a family history of precocious puberty in the father and the fathers male cousins. On physical examination skin and systemic findings were normal, bilateral testis volume was 4 ml, stretched penile length was 4.5 cm, and pubic hair was Tanner stage 2. Although the testosterone levels were pubertal, baseline and stimulated LH levels were prepubertal.The patient was diagnosed with testotoxicosis with the family history, and clinical and biochemical evaluation.The case was presented because of its rarity