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

Report of the first case of precocious puberty in Rett syndrome

Rett syndrome is an X-linked dominant disorder frequently caused by the mutations in the methyl-CpG-binding protein 2 gene (MECP2). Its prevalence in the population is 1/15,000-20,000. Patients with Rett syndrome present apparently normal psychomotor developments during the first 6-18 months of life. Subsequently, they show a short period of developmental stagnation followed by a rapid regression in language and motor development. Precocious puberty is characterized by premature breast and pubic hair development, and advanced bone age development at 8 years of age. We present a case of Rett syndrome and precocious puberty in a 6-year-old girl. At the age of 6, the first signs of precocious puberty appeared (Tanner stage 3). Laboratory measurements were detected as follows: luteinizing hormone (LH), 0.2 mIU/mL; follicle-stimulating hormone (FSH), 1.1 mIU/mL; estradiol, 36 pg/mL; bone age, 9 years. The response to luteinizing hormone releasing hormone (gonadotropin-releasing hormone stimulation test) was characteristic for true precocious puberty (LH, 32 mIU/mL; FSH, 26 mIU/mL). This is the first reported case of precocious puberty related to Rett syndrome

Effect of obesity on left ventricular longitudinal myocardial strain by speckle tracking echocardiography in children and adolescents.

Background: Impaired subclinical ventricular function may contribute to the risk of cardiovascular disease in obesity. Aims: The aim of this study was to determine the influence of obesity on left ventricular (LV) longitudinal myocardial function in normotensive obese children using two-dimensional (2D) speckle tracking echocardiography (STE). Study Design: Case-control study. Methods: Sixty normotensive obese children aged 10-16 years (mean age, 13.9±2.3 years) were compared with 50 normal-weight controls. Obese participants had a body mass index (BMI)≥95th percentile. Regional strain/strain rate (SR) values were compared with left ventricular (LV) parameters. The correlation was studied by linear regression analysis. Results: Obese subjects exhibited a significantly higher LV end-diastolic diameter, left atrium/aortic diameter ratio, and LV mass/index when compared to controls (p<0.001). Left ventricular ejection fraction and regional systolic myocardial velocities were similar in the obese and control groups. By 2D STE, regional strain of both the septal wall (average strain: -16.0±3.9% vs-21.9±2.4%, p<0.001) and lateral wall (average strain: -15.6±2.3% vs -22.9±3.5%, p<0.001); regional SR of both the septal wall (average SRsys: -0.7±0.22 s-1 vs -1.3±0.32 s-1, p<0.001) and lateral wall (average SRsys: -0.67±0.19 s-1 vs-1.33±0.31 s-1, p<0.001); regional SRE/A of both the septal wall (average SRE/A: 1.8±0.83 vs. 2.2±0.91, p: 0.004) and lateral wall (average SRE/A: 1.4±0.43 vs. 2.4±1.21, p<0.001); and global strain (-14.6±7.34% vs -20.9±3.24%, p<0.001) were lower in the obese group compared with the controls. These strain imaging parameters appear to be related to the severity of obesity and can contribute to increased BMI. Left ventricular mass was found to be correlated with a decrease in global LV strain. Conclusion: Our study showed that childhood obesity is associated with an alteration in the longitudinal LV function. Segmental analysis of the LV can provide subtle markers for the emergence of future obesity-related cardiac disease