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 lifespan.

HHcy may develop in patients using OXC. Contrary to some previous publications, our data do not suggest that OXC is safer than VPA in terms of HHcy risk. Further prospective, large scale and longer term studies investigating all suggested pathways responsible for development of atherosclerosis due to HHcy should be conducted to define the exact mechanism responsible for AEDs related atherosclerosis.

Our results indicate that the M694V/M694V mutation is associated with lower response to colchicine treatment. Therefore, patients homozygous for M694V/M694V may be carrying an increased risk for development of amyloidosis.

Although CPL-induced long-term nephrotoxicity was found in half of the pediatric CS of solid tumors, clinically significant nephrotoxicity was detected only in a minority of them. Both higher cumulative IFO dose and younger age at treatment were found to be independent risk factors for both development and severity of CPL-induced nephrotoxicity.

Objectives To investigate the utility of shear wave elastography (SWE) in detecting morphologic abnormalities of the median nerve and posterior tibial nerve in transverse and longitudinal axes in adolescents with type 1 diabetes mellitus (DM) without diabetic peripheral neuropathy (DPN). Methods The median nerves and posterior tibial nerves of 25 adolescents with diagnosis and follow‐up of type 1 DM without DPN and 32 healthy volunteers were evaluated with SWE by 2 observers on the transverse and longitudinal axes. The cross‐sectional area and thickness of the nerves and disease duration were noted, and probable associations of these parameters with SWE features were analyzed. Interobserver and intraobserver correlations were also examined. The statistical significance level was set at P < .05. Results Both the median nerve and posterior tibial nerve were smaller, thinner, and stiffer in the patient group for both observers on both axes. The disease duration weakly correlated with median nerve SWE features (r = 0.245–0391). The thickness and cross‐sectional area had no correlations with SWE features. Conclusions The median nerve and posterior tibial nerve in adolescents with type 1 DM without DPN have morphologic abnormalities that can be displayed by SWE regardless of the imaging axis. Shear wave elastography may have a potential role in subclinical DPN, but the reliability of the findings is not as high as desirable.