Turner syndrome and associated problems in turkish children: A multicenter study

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 stenosi) 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. © Journal of Clinical Research in Pediatric Endocrinology

Assessment of pulmonary function by impulse oscillometry and spirometry in children with type 1 diabetes mellitus

Aim To assess the lung functions with impulse oscillometry (IOS) and spirometry in children with type 1 diabetes mellitus (T1DM). Methods Fifty-one children with T1DM, and sex- and age-matched 53 healthy control (HC) subjects were included in this study. Demographic, clinical, and laboratory characteristics of the subjects were recorded and their pulmonary functions were analyzed by IOS and spirometry. Results In IOS, zR5, zR10, and zR20 levels were higher in children with T1DM compared with HCs (P = .019,P = .017, andP = .002, respectively). In spirometry, zFEF75 and zFEF25-75 were lower in children with T1DM compared with HCs (P = .025,P = .001, respectively). In IOS, zR5-20 (P = .008,P = .005, respectively) and zAX (P = .013,P = .009, respectively) were significantly lower in good-controlled group compared with moderate- and poor-controlled group. In spirometry, zFEF25-75 was significantly higher in good-controlled group compared with moderate- and poor-controlled group (P = .005,P = .009, respectively). HbA1c was positively correlated with zR5-20 value (r = .339;P = .017) in male children with T1DM. The duration of the disease was positively correlated with zR5-20 (r = .290;P = .043) and zFres (r = .358;P = .010). According to the receiver operating characteristic curve analysis to estimate optimal cut-offs to discriminate good control level of T1DM (HbA1c < 7%), a zR5-20 <= 2.28 demonstrated a 75.0% sensitivity and 82.9% specificity, with an area under the curve of 0.805 ([confidence interval, 0.615-0.995];P = .007). Conclusions This study showed subclinical impairment of lung functions which is associated with disease duration and the degree of metabolic control in children with T1DM