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

Dental pulp stone formation during orthodontic treatment: A retrospective clinical follow‑up study

Objective: The aim of this study was two‑fold: (1) To assess the incidence of dental pulp stone formation during orthodontic treatment, and (2) to determine the correlations between the presence of dental pulp stones and age, gender, and dental arches.Materials and Methods: A sample of 545 patients (334 girls and 211 boys, age range; 12–22 years) who had undergone nonextraction orthodontic treatment were included in this study. 8442 teeth (T1) and 8410 teeth (T2), including the first and second maxillary and mandibular premolars and molars were evaluated from the pre‑ (T1) and post‑treatment (T2) panoramic radiographs of the patients. The Pearson Chi‑square test was used to investigate the associations between the presence of dental pulp stone, gender, age, tooth type and arches.Results: Dental pulp stones were detected in 3% of the teeth at pretreatment panoramic radiographs and 5.2% of the teeth at posttreatment panoramic radiographs. Pulp stone prevalence increased pointedly (2.2%) in the pre‑ and post‑treatment radiographs (P < 0.001). Also, there was a significant difference between the age groups (P < 0.001). In the maxilla, dental pulp stones were found significantly more than that in the mandible at T1 and T2 panoramic radiographs. Maxillary first molars exhibited dental pulp stones the most frequently, followed by the maxillary second molars and mandibular first molars.Conclusion: Orthodontic treatment may trigger the formation of dental pulp stones. However, further studies are required to determine the relationship between the pulp stone formation and orthodontic treatment.Keywords: Dental pulp stone, incidence, orthodontics, panoramic radiograph

Nationwide Turkish Cohort Study of Hypophosphatemic Rickets

Objective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options