Diagnosis Of Turner Syndrome Research Articles

Prenatal diagnosis of Turner syndrome: two clinical cases and a retrospective analysis of detected cases on the basis of the Stavropol Regional Clinical Consulting and Diagnostic Center from 2008 to 2018

Objective. The frequency of monosomy X is estimated. The diagnostic value of various ultrasound markers in a fetus with Turner syndrome in the first and second trimesters of pregnancy was evaluated. Materials. The database of cytogenetic studies from 2008 to 2018 of our center was analysed. Studies include invasive prenatal diagnosis and research on abortion material. Two clinical observations of Turner's syndrome identified in the second trimester of pregnancy were considered. Results. Of 3450 cytogenetic studies, 70 karyotypes of monosomy X were detected, the full form was found in 57 (81 %) cases, mosaic — 13 (19 %). The 46 karyotypes of monosomy X were non-developing pregnancies and 24 cases of invasive prenatal diagnosis. In the group of non-developing pregnancies, the complete form of monosomy X was observed in 40 (86.9 %) cases, mosaic — in 6 (13.1 %), embryo death in 73 % of cases occurred in the period of 8–9 weeks of gestation. The data of two clinical observations of Turner syndrome identified in the second trimester are presented. The finding ultrasonic markers of monosomy X in the analysed studies are considered. Conclusion. The detection of monosomy X is possible in most cases in the first trimester. However, the variability of symptoms and their severity does not always allow identify this pathology in the early stages. The search for soft markers during the second trimester ultrasound, the widespread use of echocardiography and a comprehensive assessment of all the studies performed can increase the frequency of detection of Turner syndrome.

A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment.

Turner syndrome (TS), also known as Congenital ovarian hypoplasia syndrome, occurs when the X chromosome is partially or completely missing in females. Its main clinical manifestations include growth disorders, reproductive system abnormalities, cardiovascular abnormalities, and autoimmune diseases. TS is highly prevalent in China. Timely diagnosis is crucial, and non-invasive prenatal DNA testing can identify TS and other diseases. Treatment of TS mainly involves administration of growth hormone combined with very low doses of estrogen to increase the patients height. This article describes the incidence, complications, diagnosis, and treatment of TS.

Depression, Identity, and Competence in Women With Delayed Turner Syndrome Diagnosis

Abstract Date Presented 4/20/2018 This study examined age at Turner syndrome diagnosis as a factor in psychosocial difficulties. Women diagnosed after age 13 reported higher depression and more frequent substance use. Occupational therapy practitioners may use this research to monitor poor mental health and its behavioral manifestations in this population. Primary Author and Speaker: Gabrielle Reimann Contributing Authors: Leora Comis, Martha Bernad Perman

Examination of sex chromosome abnormalities in childhood

Early diagnosis of sex chromosome abnormalities is important because of prevention, family planning and optimal therapy. Investigation of the relationship between phenotype, age at time of diagnosis and therapeutic options in sex chromosome aberrations. Processing data of 51 children with sex chromosome abnormalities who were diagnosed between 2009 and 2014 and examined at the 2nd. Department of Pediatrics, Semmelweis University, by the methods of anamnesis, family tree analysis, physical examination, karyotype analysis and fluorescent in situ hybridisation. 41% of the patients were diagnosed with Turner-, 18% with Klinefelter-, 10% with double-Y-, 6% with triple- and poly-X-syndrome, 19% with other gonadal dysgenesis and 6% with other abnormality. The average age at diagnosis: Turner- and Klinefelter-syndrome 10 years, other gonadal dysgenesis 9 years, 46,XX,t(X;10) 17 years, other abnormalities 1-2 years. Numerical aberrations of the sex chromosomes are more common than structural aberrations. Klinefelter-, triple- and poly-X-syndromes are underdiagnosed in childhood. Early diagnosis of Turner-syndrome and other gonadal dysgenesis is necessary to optimise therapy and prevent associated diseases. This can be achieved by modern prenatal diagnostic methods and targeted activity of family pediatricians. Orv Hetil. 2018; 159(27): 1121-1128.

Y chromosome in female patients with a clinical diagnosis of Turner syndrome: literature review and researchers’ own monitoring

Turner syndrome (TS) is the most common genetic disorder associated with X chromosome abnormality. Total absence of one of the X chromosomes in all cells occurs in 40—50 % of cases. In 5 % of female patients with TS there is, along with cells without genetic material of X chromosome, a cell line with 46,XY karyotype or only a part of Y chromosome, which might manifest clinically as virilization and mixed gonadal dysgenesis. Early identification of genetic material of Y chromosome in female patients with TS is of great clinical importance due to higher risk of germ cell tumors.Presented in the article are data of researchers’ own monitoring of a girl with TS with rare karyotype containing genetic material of Y chromosome.

Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study

BackgroundEarly diagnosis of girls with Turner syndrome (TS) is essential to provide timely intervention and support. The screening guidelines for TS suggest karyotype evaluation in patients presenting with short stature, webbed neck, lymphoedema, coarctation of aorta or ≥ two dysmorphic features. The aim of the study was to determine the age and clinical features at the time of presentation and to identify potential delays in diagnosis of TS.MethodsRetrospective data on age at diagnosis, reason for karyotype analysis and presenting clinical features was collected from the medical records of 67 girls with TS.ResultsThe mean age of diagnosis was 5.89 (±5.3) years ranging from pre-natal to 17.9 years (median 4.6 years). 10% were diagnosed antenatally, 16% in infancy, 54% in childhood (1–12 years) and 20% in adolescence (12–18 years). Lymphoedema (27.3%) and dysmorphic features (27.3%) were the main signs that triggered screening in infancy. Short stature was the commonest presenting feature in both childhood (52.8%) and adolescent (38.5%) years. At least 12% of girls fulfilled the criteria for earlier screening but were diagnosed only at a later age (mean age = 8.78 years). 13.4% of patients had classical 45XO karyotype and 52.3% of girls had a variant karyotype.ConclusionMajority of girls with TS were diagnosed only after the age of 5 years. Short stature triggered evaluation for most patients diagnosed in childhood and adolescence. Lack of dedicated community height-screening programme to identify children with short stature and lack of awareness could have led to potential delays in diagnosing TS. New strategies for earlier detection of TS are needed.

Psychosocial Characteristics of Women with a Delayed Diagnosis of Turner Syndrome

To characterize the psychosocial profiles of adult women diagnosed with Turner syndrome before (early diagnosis) and at or after (late diagnosis) 13 years of age. Women with Turner syndrome ages 22 and older at evaluation (n = 110) participated in a cross-sectional study at the National Institutes of Health. Researchers performed nonparametric and logistic regression analyses to assess early and late diagnosis cohorts on measures of depression, substance use, and perceptions of competence and identity. Of study participants, 47% received a Turner syndrome diagnosis at or after age 13 years. Median age at diagnosis was 12.0 years (range, 0-43). Covariate-adjusted models revealed that women with late diagnoses had an increased likelihood of developing mild to severe depressive symptoms (OR, 7.36) and a decreased likelihood of being perceived as competent (OR, 0.26). Women with a late diagnosis also exhibited more frequent substance use compared with women with early diagnoses. These data suggest that Turner syndrome diagnoses received at or after age 13 years may contribute to adverse outcomes related to depression, substance use, and perceptions of competence. Delayed Turner syndrome diagnoses may place women and girls at risk for negative psychosocial development extending into adulthood. These findings indicate it is important for pediatricians to evaluate psychosocial domains in girls with Turner syndrome regularly, particularly among those diagnosed at age 13 years or older. ClinicalTrials.gov: NCT00006334.

Multiple facial image features-based recognition for the automatic diagnosis of turner syndrome

Because of the diversity of individual clinical symptoms and the lack of reliable diagnostic criteria based on the clinical features of appearance, the initial diagnosis of Turner syndrome (TS) mainly depends on the clinical characteristic of height, resulting in many patients with Turner syndrome being diagnosed with other diseases, such as dwarfism. To improve objectivity, reduce the burden on well-experienced endocrinologists, allow screening of suspected patients in under-developed areas and provide TS patients with early detection and early treatment, a facial image analysis-based computer-aided system for automatic face classification is proposed. The system is composed of facial image pre-processing, image feature extraction, and automatic classification. First, several unique appearance features are identified in different facial regions based on clinical observations by endocrinologists, including ocular distance, epicanthus, and the numbers and sizes of melanocytic nevi. Based on the characteristics, we trained a 68 feature-points face model. Then, distance between points, Gabor wavelet filtering and spot detection are applied to extract global features and local features, respectively, and Gabor features are reduced by principal component analysis (PCA). Finally, Support Vector Machine (SVM) and the Adaboost algorithm are used for classification. Although all subjects involved in this trial are Chinese, the method achieves an average accuracy of 84.6% on the training set and 83.4% on the testing set based on K-fold cross- validation. The sustainable acquisition and accessibility of face images used for research is one of our advantages. We believe that this work can serve as an important reference for other assistant diagnosis systems related to facial images.

Raritná kombinácia Turnerovho syndrómu a kongenitálnej adrenálnej hyperplázie s deficitom 21-hydroxylázy: kazuistika

Combination of Turner syndrome (TS) and classic congenital adrenal hyperplasia (CAH) is rare. Globally, the incidence of CAH, autosomal recessive disorder caused by enzyme defect of steroidogenic pathway, is very low (1 : 10 000-16 000). 90 % of CAH cases are caused by 21-hydroxylase gene mutation (CYP21A2). Globally, the incidencie of Turner syndrome reaches 1 : 2 500. Phenotypically, females with TS may render wide spectrum of clinical features. Dominant symptoms are lowered terminal height and gonadal dysgenesia, ultimately leading to absence of puberty and infertility. Virilisation may be evident among TS women with chromosome Y 45, X/46, XY. We present a 57 year old woman suffering from both TS 45, X/46, XX and 21-hydroxylase deficiency. Based on the intersex, she was misdiagnosed as a male after the birth. Dominant signs were intrauterine growth retardation and Prader 5 virilisation of the external genitalia. Testes were not palpable. Laparoscopy at the age of 6 showed uterus and ovaries. After this examination, clitoroplasty and vaginoplasty was performed. Karyotyping revealed a 45, X/46, XX pattern. The presence of virilising features at the time of puberty however could not be explained with the diagnosis of Turner syndrome. Laboratory tests revealed elevated level of 17-hydroxyprogesterone, dehydroepiandrosterone with low cortisol concentration and elevated ACTH. With the genomic analysis CYP21A2 gene, namely IN2G (IVS 2-13 A/C>G), large deletion/conversion was detected. Glucocorticoid treatment was initiated. Due to increased plasma renin concentration, fludrocortisone therapy was also initiated. Within this therapy, patient´s state improved significantly.Key words: congenital adrenal hyperplasia - CYP21A2 - Turner syndrome - 21-hydroxylase deficiency.

FSH may be a useful tool to allow early diagnosis of Turner syndrome

BackgroundUltrasensitive assays to measure pre-pubertal gonadotropins levels could help identify patients with Turner syndrome (TS) in mid-childhood, but studies in this field are scarce. The aim of this study was to analyze gonadotropins levels in girls with TS throughout childhood.MethodsRetrospective longitudinal study conducted with 15 girls with TS diagnosed with < 5 years whose FSH and LH measures were available since then. Hormones were evaluated in newborn/mini-puberty (< 0.5 years), early childhood (0.5–5 years), mid-childhood (5–10 years) and late childhood/adolescence (> 10 years). In newborn/mini-puberty and late childhood/adolescence pre-pubertal or pubertal gonadotropins were considered normal; in early childhood and mid-childhood concentrations above the pre-pubertal range were considered abnormal.ResultsAbnormally high FSH alone was found in four of five patients in newborn/mini-puberty, 13 of 15 during early childhood and nine of 15 during mid-childhood. In the group of 12 patients in late childhood/adolescence, the three girls with spontaneous puberty had only normal levels; the remaining showed only post-menopausal concentrations. In mid-childhood one patient exhibited only pre-pubertal FSH. Conversely, most LH measurements in early and mid-childhood were normal.ConclusionKaryotyping of girls with short stature and high FSH levels would allow early diagnosis of Turner syndrome in a significant number of patients, particularly when resources for chromosome study of all girls with growth deficiency are limited.

Measured parental height in Turner syndrome\u2014a valuable but underused diagnostic tool

Early diagnosis of Turner syndrome (TS) is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height (Ht) is needed for appropriate evaluation. We examined both the prevalence and diagnostic sensitivity of measured parental Ht in a dedicated TS clinic between 1989 and 2013. Lower end of parental target range (LTR) was calculated as mid-parental Ht (correction factor 12.5 cm minus 8.5 cm) and converted to standard deviation scores (SDS) using UK 1990 data, then compared with patient Ht SDS at first accurate measurement aged > 1 year. Information was available in 172 girls of whom 142 (82.6%) were short at first measurement. However, both parents had been measured in only 94 girls (54.6%). In 92 of these girls age at measurement was 6.93 ± 3.9 years, Ht SDS vs LTR SDS − 2.63 ± 0.94 vs − 1.77 ± 0.81 (p < 0.001), Ht SDS < LTR in 78/92 (85%). Eleven of the remaining 14 girls were < 5 years, while karyotype was 45,X/46,XX in 2 and 45,X/47,XXX in 3.Conclusion: This study confirms the sensitivity of evaluating height status against parental height but shows that the latter is not being consistently measured.What is Known:• Girls with Turner syndrome are short in relation to parental heights, with untreated final height approximately 20 cm below female population mean.• Measured parental height is more accurate than reported height.What is New:• In a dedicated Turner clinic, there was 85% sensitivity when comparing patient height standard deviation score at first accurate measurement beyond 1 year of age with the lower end of the parental target range standard deviation.• However, measured height in both parents had been recorded in only 54.6% of the Turner girls attending the clinic. This indicates the need to improve the quality of growth assessment in tertiary care.

EP04.29: Prenatal diagnosis of Turner syndrome in a case of isolated aberrant right subclavian artery

EP04.29: Prenatal diagnosis of Turner syndrome in a case of isolated aberrant right subclavian artery

Increased detection of co-morbidities with evaluation at a dedicated adult Turner syndrome clinic

Objectives: Turner syndrome (TS), resulting from complete/partial X chromosomal monosomy, is associated with multiple co-morbidities and increased mortality. Although multidisciplinary management is recommended, TS women’s health care is sub-optimal. This study evaluates a multidisciplinary adult TS service.Methods: Retrospective cohort study of 82 patients attending the quarterly TS clinic from December 2003 to December 2014. Evaluation included (1) demographics, (2) TS standardized co-morbidity screening, and (3) estrogen therapy use. Data analysis involved frequency statistics, T tests and polychoric correlation analysis.Results: Median age at TS diagnosis was 14 years (range 0–65 years), with 12% of women aged >18 years. Median age at initial consultation was 31 years (range 16–65 years). Only 14% of patients were transition program referrals. XO karyotype occurred in 30%. Primary amenorrhea predominated; however, 37% of TS women were not taking estrogen therapy. The proportion of patients not previously screened (44–76%) and those with positive screening diagnoses (5–53%) varied according to co-morbidity. The mean (± standard deviation) number of co-morbidities identified increased following TS clinic screening (7.0 ± 2.6 post-screening vs. 4.4 ± 2.3 pre-screening; p < 0.0001). Polychoric correlation analysis identified particular co-morbidity groupings (including metabolism-related) and increased co-morbidities with primary amenorrhea.Conclusion: A multidisciplinary adult TS clinic improves health surveillance with increased identification of co-morbidities and initiation of estrogen therapy.

New insights on diabetes in Turner syndrome: results from an observational study in adulthood

To explore the characteristics of diabetes mellitus in adults with Turner syndrome. Observational study consisting of a prospective phase after the access of adults with Turner syndrome to the Endocrinology Unit (median period of follow-up 15.6, interquartile range: 12.0-24.5 months) and a retrospective collection of data from the diagnosis of Turner syndrome until the time of access to the Endocrinology Unit. A total of 113 Italian Turner syndrome patients were included in the study. During the prospective phase of the study, each patient underwent physical examination, fasting blood sampling, and an oral glucose tolerance test on a yearly basis. Oral glucose tolerance test was used to perform the diagnosis of diabetes mellitus. Before access to the Endocrinology Unit, diabetes mellitus was diagnosed in two Turner syndrome patients. Another five cases of diabetes mellitus were diagnosed at the first access to the Endocrinology Unit, whereas seven new cases of diabetes mellitus were diagnosed during the prospective phase of the study. At the diagnosis of diabetes mellitus, only one patient had fasting glucose above 126 mg/dL, and only two had an HbA1c value >6.5% (48 mmol/mol). When compared to normo-glucose tolerant patients, the diabetic patients had a significantly lower insulin-to-glucose ratio at 30 and 60 min of the oral glucose tolerance test. In the regression analyses, only age was associated with the development of diabetes mellitus. This study confirms that diabetes mellitus is frequent in Turner syndrome and suggests that it is specific to the syndrome. In addition, this study demonstrates that oral glucose tolerance test is a more sensitive test than HbA1c for the diagnosis of diabetes mellitus in Turner syndrome.

Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study).

IntroductionRecent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria.AimOur first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences.Materials and methodsWe analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children’s Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences.ResultsThe average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations (r=0.45), particularly the cardiovascular ones (r=0.44). Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y chromosome sequences were found in only one patient, who subsequently underwent gonadectomy.ConclusionThe importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical practice, studies on large groups of patients should be conducted.

Detection of Turner syndrome using X-chromosome inactivation specific differentially methylated CpG sites: A pilot study

BackgroundEarly diagnosis of Turner syndrome (TS) may improve preventive measures and treatment. X-chromosome inactivation specific differentially methylated CpG sites (XIDMSs) that are high methylated in inactive X chromosomes (Xi) and unmethylated in active X chromosomes (Xa) may be potential makers for TS detection. MethodsThe candidate XIDMSs were screened from 9 male and 12 female DNA samples with normal karyotypes using the Illumina 450k array and validated by bisulfite sequencing PCR and pyrosequencing assay. X chromosome dosage was calculated according to the methylation level of multiple XIDMSs. ResultsOverall, 108 candidate XIDMSs were screened by the 450k array. Validations indicated that XIDMSs gathered and formed the X-chromosome inactivation specific differentially methylated regions (XIDMRs). Using 3 XIDMRs at SAT1, UXT and UTP14A loci, 36 TS, 22 normal female and 6 male samples were analyzed. Methylation levels of the 20 XIDMSs in the XIDMRs could distinguish between TS and normal female DNA samples, the X chromosome dosage was consistent with karyotyping data. Analyzing samples of 2 triple X syndrome and 3 Klinefelter syndrome patients suggested that this method could be used to detect X chromosome aneuploids other than TS. ConclusionsXIDMSs are widely spread along the X chromosome and might be effective markers for detection of TS and other X chromosome aneuploids.

Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome

To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome. Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.

Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening.

Context:Turner syndrome (TS) is due to a complete or partial loss of an X chromosome in female patients and is not currently part of newborn screening (NBS). Diagnosis is often delayed, resulting in missed crucial diagnostic and therapeutic opportunities.Objectives:This study sought to determine if whole-exome sequencing (WES) as part of a potential NBS program could be used to diagnose TS.Design, Setting, Patients:Karyotype, chromosomal microarray, and WES were performed on blood samples from women with TS (n = 27) enrolled in the Personalized Genomic Research study at the National Institutes of Health. Female control subjects (n = 37) and male subjects (n = 27) also underwent WES. Copy number variation was evaluated using EXCAVATOR2 and B allele frequency was calculated from informative single nucleotide polymorphisms. Simulated WES data were generated for detection of low-level mosaicism and complex structural chromosome abnormalities.Results:We detected monosomy for chromosome X in all 27 TS samples, including 1 mosaic for 45,X/46,XX and another with previously unreported material on chromosome Y. Sensitivity and specificity were both 100% for the diagnosis of TS with no false-positive or false-negative results. Using simulated WES data, we detected isochromosome Xq and low-level mosaicism as low as 5%.Conclusion:We present an accurate method of diagnosing TS using WES, including cases with low-level mosaicism, isochromosome Xq, and cryptic Y-chromosome material. Given the potential use of next-generation sequencing for NBS in many different diseases and syndromes, we propose WES can be used as a screening test for TS in newborns.

Karyotype analysis for Turner syndrome

The first karyotype investigation in a patient with Turner syndrome (TS) was performed in England, in 1959; prior to that, it was thought that humans possessed 48 chromosomes. Most individuals with down-syndrome possess 47 chromosomes, with an extra copy of chromosome 21. Most individuals with TS possess 45 chromosomes, with a missing X chromosome. Here, we present 45 XO karyotype analysis in a 12-year-old girl with TS; although it is common in females, it is still rare to encounter in dental institutions. Oral physicians and pediatric dentists need to be aware of the major clinical features for definitive diagnosis of TS for early recognition and timely investigation which will improve their quality of life and to guide for the oral care.

Cardiac MRI and 3D contrast-enhanced MR angiography in pediatric and young adult patients with Turner syndrome.

This study aimed to describe the spectrum and frequency of cardiovascular abnormalities in pediatric and young adult patients with Turner syndrome (TS) using cardiac MRI and MR angiography. This prospective study consisted of 47 female patients of pediatric age and young adults with a karyotypically confirmed diagnosis of TS. All patients underwent cardiac MRI and contrast-enhanced MR angiography. A second examination after 9-26 months was performed for 28 of these patients. Elongation of the transverse aortic arch (ETA) was the most frequent abnormality with a rate of 37%. The rate of partial anomalous pulmonary venous connection (PAPVC) was 21.7%, bicuspid aortic valve (BAV) was 19.6%, coarctation was 6.5%, ascending aorta dilatation was 28.3%, and descending aorta dilatation was 15.2%. The diameters of the aorta and the rate of aortic dilatation per unit of time was greater in the patients with BAV (P < 0.05). ETA was less observed in the patients who were receiving growth hormone therapy (P < 0.05). The most common cardiovascular abnormalities in TS patients are aortic arch anomalies such as ETA and coarctation, aortic dilatation, PAPVCs, and BAV. The presence of BAV is an important risk factor for the aortic dilatation.