Volume CXIV, Number 4, November 7, 1996

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%.Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespa

Incidence of Autoimmune Thyroid Disease in Patients with Type 1 Diabetes

INTRODUCTION: In this study, it was aimed to determine the frequency of autoimmune thyroid disease (OITH) in children and adolescent patients who were followed-up with type 1 diabetes mellitus(T1DM) and to evaluate its relationship with other parameters

Neurofibromatosis type 1 and autoimmune hyperthyroidism in a 10,5 years-old girl

Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited multisystem disease associated with several endocrine disorders. Association of NF1 and hyperthyroidism is extremely rare. All previously reported cases were in adult age group. Herein, we present autoimmune thyrotoxicosis associated to NF1 in a pediatric patient presenting with goiter and symptoms of thyrotoxicosis. [Cukurova Med J 2013; 38(4.000): 805-808

Evaluation Of Psychological Characteristics Of Turkish Children With Type 1 Diabetes Mellitus From Two Demographically And Geographically Distinct Regions

Type 1 diabetes mellitus (T1DM), patients have an increased risk of psychiatric morbidity compared to their healthy counterparts. The aim of the present study is to evaluate the demographic and laboratory data and psychological characteristics of children with T1DM from two geographical regions of Turkey. The study included 98 pediatric T1DM patients followed in pediatric endocrinology clinics from Diyarbakir (n=50), an eastern city and Antalya (n=48) a western city, and 43 healthy subjects from Diyarbakir (n=20) and Antalya (n=23). The sociodemographic data, duration of diabetes and the glycated hemoglobin levels (HbA1c) were also noted. For the evaluation of emotional and behavioral problems in children, Turkish version of The Child Behavior Checklist (CBCL) 6-18, and for depression, Child depression inventory (CDI) was used. Patients from the Diyarbakir Diabetes Mellitus (DDM) group had a longer duration of diabetes compared to those of the Antalya Diabetes Mellitus (ADM) group, while HbA1c levels were not statistically different. Children with T1DM from Diyarbakir reported higher problem scores in CBCL in majority of domains and both internalizing and externalizing subscores compared to the controls and in all domains compared to the patients from Antalya. The CDI scores of the DDM group were also significantly higher than those of the ADM group. In conclusion, diabetic children from Diyarbakir had more problems in emotional, social and behavioral domains compared to the healthy peers and patients from Antalya, indicating that T1DM brought more psychosocial burden to these patients independently from the metabolic control. Pediatric specialists working in the eastern region should be more precautious with diabetic patients in terms of comorbid psychiatric conditions and psychiatric referral when needed.WoSScopu

Low Serum Adiponectin Levels in Children and Adolescents with Diabetic Retinopathy

Objective: The aim of this study was to elucidate the role of adiponectin, leptin, TNF-α and IL-6 on the early detection of the microvascular complications of type I diabetes. Materials and Methods: A total of 88 children were included in the study. There were 60 type I diabetic patients and 28 healthy control children. Results: The gender, age, weight, height, BMI and puberty status characteristics were similar in the patient and control groups (p>0.05). The serum leptin, TNF-α and IL-6 levels were similar between the patient and control groups (p>0.05) and the only difference was in the serum adiponectin level which was higher in the patient group (p:0.042). We also found no association between the adiponectin, leptin, TNF-α and IL-6 levels and diabetes duration (p>0.05). Leptin was high in the pubertal period (p:0.016), while adiponectin TNF-α and IL-6 levels were similar in the prepubertal and pubertal periods (p>0.05). The serum leptin level was high in microalbuminuria patients (p0.05). The serum adiponectin level was lower in diabetic retinopathy patients (p:0.003), while the serum leptin level was higher (p:0.003). The TNF-α and IL-6 levels were similar in patients with and without retinopathy (p>0.05). Conclusion: We found increased serum adinopectin levels in children and adolescents with type I diabetes mellitus and low levels in diabetic retinopathy patients. Patients with low serum adiponectin levels and high leptin levels should be more closely monitored for chronic complication development and better metabolic control should be aimed for