Turner Syndrome Patients Research Articles

Treatment with recombinant growth hormone in children with Turner syndrome: a study from a tertiary university center

Introduction : Turner syndrome (TS) is a rare disease with typical phenotype manifestations and short stature. Part of the therapy in TS patients is the recombinant human growth hormone (rhGH) that leads to improved height velocity and final height. Aim : The aim of the current study is to summarize the results of the diagnosis and treatment with rhGH of the TS patients followed up at a tertiary university center from 2011 to 2020. Patients and Methods : The study design is a retrospective cohort evaluation. All study participants had at least one full year of observation at the center. A total of 28 children with genetically confirmed TS or TS variation karyotype, aged between 2 and 18 years, 92.9 % of whom were girls, participated in the study. Results : The mean age at diagnosis was 9.6±3.7 years. Therapy with rhGH was started at 9.27±3.4 years in 22 (78.5%) of them with a mean rhGH dose of 0.035±0.006 mg/kg/d, which led to height gain of 8.0±1.3 cm for the first year. With a similar rhGH dose for the 2 nd year of treatment (0.033±0.007 mg/kg/d), height velocity of 6.8±1.1 cm was achieved (p<0.005). A positive change in SDS height was observed for the first year of therapy (-2.75±1.2 vs. -2.27±1.2, p=0.005). SDS IGF -1 before and after one treatment year increased significantly (-0.74±1.1 vs.1.57±1.4, p=0.001), without exceeding 2.0 SD. Conclusion : The achieved growth in the presented TS cohort is suboptimal though consistent with the international guidelines for treatment of TS, and could help optimize future treatment approach to TS patients in our center.

Subsequent menstrual disorder after spontaneous menarche in Turner syndrome.

Turner syndrome (TS) is a congenital disease characterized by delayed puberty, ovarian dysgenesis and short stature. Although most patients are diagnosed with primary amenorrhea, approximately 15-20% of patients with TS are reported to have spontaneous menarche. However, little is known about their menstruation status after spontaneous menarche. In the current study, we investigated the menstrual abnormalities after spontaneous menarche in TS patients. Retrospective study. This study included TS patients with spontaneous menarche at Osaka Police Hospital or Komura Women's Clinic between April 2015 and December 2019. Data regarding the age of menarche, menstruation status and chromosomal karyotype were collected and retrospectively analyzed. Of 172 TS patients, 32 with spontaneous menarche were identified. The median age of menarche was 12 years old. Premature ovarian insufficiency (POI) after menarche was observed in 12 patients (37.5%) and the median age at menopause was 20 years old. The average period from spontaneous menarche to menopause in these patients was 5.1 years. Five patients (15.6%) had irregular menstruation and 15 (46.9%) had regular menstruation. When examined according to the structural abnormality of the X chromosome, all patients with structural abnormality of the X chromosome were diagnosed with POI after spontaneous menarche, and none with mosaic without structural abnormality were diagnosed with POI. Approximately one-third of TS patients with spontaneous menarche were diagnosed with POI after menarche for an average of 5.1 years. Counseling is required for TS patients and their parents, including information about menstrual abnormalities or fertility preservation.

Reproductive outcomes after preimplantation genetic testing in mosaic Turner syndrome: a retrospective cohort study of 100 cycles

The purpose of this study is to explore the reproductive outcomes of women with Turner syndrome (TS) in preimplantation genetic testing (PGT) cycles. A retrospective study of 100 controlled ovarian stimulating cycles, 68 TS (sixty-four mosaic Turner syndrome (MTS) and four pure Turner syndrome (PTS)) women underwent PGT was conducted from 2013 to 2018. Embryo X chromosome abnormal rates of TS women were significantly higher than women with normal karyotype (7.04 vs 1.61%, P<0.01). Cumulative live birth rates (CLBR) after PGT-NGS treatment were lower in TS than control (31.15 vs 45.59%, P<0.05). Clinical pregnancy rates per transfer (CPR), miscarriage rates (MR) and live birth rates per transfer (LBR) remained comparable between TS and control group. Reproductive outcomes (X chromosome abnormal rates, CPR, MR, LBR and CLBR) among low (<10%), medium (10-50%) and high (>50%) level 45,X mosaicism groups were not statistically different. To avoid high risk of embryo X chromosome abnormalities, prenatal or preimplantation genetic testing should be recommended to mosaic or pure TS patients.

Association of thyroid autoimmunity and the response to recombinant human growth hormone in Turner syndrome

Short stature and thyroid autoimmunity are common comorbidities in Turner syndrome (TS). Recombinant human growth hormone (rhGH) significantly improves height growth in TS individuals. This study aims to investigate the association of thyroid autoimmunity and the response to rhGH treatment in TS patients. Medical records of 494 patients with TS were reviewed. Among 126 patients who regularly tested for thyroid autoantibodies, 108 patients had received rhGH treatment. Clinical characteristics, including karyotype and the presence of autoimmune thyroid diseases, as well as rhGH treatment records were analyzed. Height velocity (HV) of patients with or without thyroid autoimmunity was compared to assess the response to rhGH treatment. For patients who developed thyroid autoantibodies during rhGH treatment, HV before and after antibody presence were compared. 45XO monosomy presented in 36% (176/496) of patients. 42.1% of patients (53/126) had elevated circulating anti-thyroid peroxidase antibody and anti-thyroglobulin antibody. In 108 patients who received rhGH treatment, HVs were significantly correlated to age, height, weight and BMI at the initiation of treatment. For patients who developed thyroid autoantibodies during rhGH treatment, HVs after thyroid autoantibody presence significantly decreased compared with HVs before thyroid autoantibody detection (n=44, p=0.0017). Our data suggested that in TS patients who developed thyroid autoantibodies during rhGH treatment, the response to rhGH is negatively associated with the development of thyroid autoimmunity.

20-year Surgical Outcomes for Turner Syndrome Patients: Data from the Pediatric Cardiac Care Consortium

20-year Surgical Outcomes for Turner Syndrome Patients: Data from the Pediatric Cardiac Care Consortium

Turner Syndrome: for successful treatment it is necessary to diagnose it early.

Background Turner Syndrome (TS) is a chromosomal disorder with short stature as the most common feature. The aim of this paper was to show the characteristics of TS patients treated at our Clinic, with an emphasis on their age at diagnosis and the effect of growth hormone therapy on their final height and height gain. Methods This retrospective study is based on the medical records of 37 female pediatric patients aged 0-18 years treated at the Pediatric Department of the Sestre Milosrdnice University Hospital Center from 1997 to 2017. Results Mean age at diagnosis is 7.55±5.13 years. In the observed period a trend towards later diagnosis was shown (P=0.004). Most patients (26) were treated with rhGH. The average height of all patients who reached their final height (N.=30) was 151.49±6.49 cm (standard deviation score [SDS]: -1.73±1.11). The initial height SDS was significantly lower in the treated compared to the untreated patients (P=0.02). The final height was 151.59±7.21 cm (SDS: -1.72±1.3) in the treated and 151.12±5.85 cm (SDS: -1.77±0.94) in the untreated patients. The difference between the initial and final height was significantly greater in the treated patients compared to the untreated patients (30.46 and 16.28 cm, P=0.039). The same was true for the difference between the initial and final height SDS (0.78, or -0.3, P=0.042). Conclusions Based on the results of this research, TS is increasingly diagnosed at a later age. The effect of rhGH therapy was favorable and resulted in a greater height gain in the treated patients.

Karyotype is associated with timing of ovarian failure in women with Turner syndrome

To characterize the age of ovarian failure in Turner Syndrome (TS) patients by karyotype. Retrospective cohort study of individuals with TS at an academic university hospital. Subjects were seen in TS Clinic at UNC Hospital between 2014 and 2018. Individuals were analyzed by karyotype category (45X, 45X/46XX mosaicism, miscellaneous) and percentage of 45X cells. Age at follicle-stimulating hormone> 30 was defined as the age at loss of ovarian function. A total of 79 patients were identified after excluding individuals with unknown ovarian function and those with Y chromosome material. Thirty-eight percent were 45X monosomic, 62% were 45X/46XX mosaic or miscellaneous karyotypes. Fifty-five of 79 (70%) patients had evidence of ovarian failure, median age of failure 11 years (IQR: 4,12). Ovarian failure was more prevalent among individuals with 45X karyotype (100%). The median age of ovarian failure for 45X patients (n=30) was 10 years old, which is significantly younger than other karyotypes (n=49), with a median of 15 years, p<0.01. Linear regression analysis found that 1 percentage point increase in 45X cells in the peripheral karyotype is associated with a 0.09 year decrease in age of ovarian failure (p value=0.01). Only 9% of individuals were referred for fertility counseling. There is a lower prevalence of ovarian failure among individuals with mosaic TS karyotypes, and referral rate for fertility counseling of patients with TS is low. These findings are in line with published literature. The finding that percentage of 45X cells in peripheral karyotype is associated with earlier age of ovarian failure is novel and warrants further investigation in a larger prospective cohort.

Evaluating transition in Turner syndrome in the West of Scotland

A Turner Syndrome (TS) Transition clinic, Royal Hospital for Children Glasgow (RHCG), with paediatric and adult endocrinology/gynaecology teams was established in 1998 with an aim of improving health outcomes in TS throughout the lifespan. To evaluate the success of our TS transition service, focussing on evaluating established follow-up after transfer to adult services. Girls attending the TS Transition clinic at Royal Hospital for Children Glasgow, 1998-2017, were identified. Attendance data were obtained from patient records and an electronic appointment system. We assessed good and late early attendance in our cohort of TS patients as well as established endocrine follow-up, defined as those still attending adult endocrine services 3 years after transfer. Success of TS transition was determined by the proportion of girls in established endocrine follow-up. Forty-six girls (median age 18.3 yrs) were identified. Thirty-six, 36/46 girls transferred prior to 2015 and 26 of those (72%) were in established follow-up at 3 years, 22/36 girls had met with an Adult specialist prior to transfer and 14/36 had not met with an adult specialist prior to transfer. Twenty-one (80.7%) were good early attenders (p=0.10). In the early attenders' cohort, there was no significant difference between those that had and had not met an adult specialist prior to transfer. A significant proportion of girls with TS are currently lost to endocrine follow-up following transfer to adult clinics. Early attendance at an adult clinic appears topredict established long-term follow-up. Strategies to improve early attendance and long-term endocrine follow-up are needed to ensure lifelong health needs are addressed.

The challenge of defining predictive parameters for fertility preservation counseling in young females with Turner syndrome

Sir, Recently, a review by Nawroth et al and an accompanying editorial on fertility preservation (FP) counseling in females with Turner syndrome (TS) by Rodriguez-Wallberg and Landin-Wilhelmsen were published.1, 2 We agree with the authors of both articles that FP counseling in TS patients is challenging because the decision to perform FP depends on multiple factors and not just on the ovarian reserve. Nawroth et al present in their review a flowchart to summarize their recommendations, which in our opinion is far too simplistic. This has been partially covered in the editorial.2 However, we would like to address several additional points that require further attention. First, the flowchart indicates that cardiologic screening should only be provided to monosomic TS patients. We agree with the opinion expressed in the editorial that cardiologic screening should be provided to all TS patients, in accordance with the Swedish guidelines for management of women and girls with TS.2 In line with the Cincinnati clinical practice guideline of TS patients, each girl in the Netherlands diagnosed with TS will have a diagnostic work-up phase, including cardiologic screening, which is similar to the Health Care Program in Sweden. Although it is reported that mosaic TS patients have a lower risk of cardiovascular and obstetric complications compared with other TS patients, cardiovascular complications can occur in all women with TS.3 Therefore, the karyotype of TS patients cannot be used as a predictive marker for cardiovascular risk evaluation. Secondly, the flowchart of Nawroth et al divides TS in two groups based on karyotypical aberrations. Peek et al have recently shown that the level of mosaicism in extra-ovarian cells was not predictive of the level of mosaicism in ovarian cells in the same patient.4 These findings have been substantiated by a case report of a girl who was initially diagnosed with 45,X, whereas a cryptic mosaicism was present in the ovary.5 Therefore, it is difficult to assign TS patients to a particular group, as cryptic cell lines may be present in the ovary that are likely to determine its reproductive potential. In our opinion, an international standard should be developed, describing which peripheral cells and number of cells should be karyotyped in order to assign a TS patient to a specific group. Thirdly, Nawroth et al gave anti-Müllerian hormone (AMH) a central position in their flowchart despite their statement that the prognostic value of AMH in determining the ovarian reserve in young TS patients is limited. Hagen et al reported that AMH levels correlated significantly with ovarian function in a relatively small group of TS patients aged 12-25 years and stated that this marker might be used for this group during FP counseling.6 However, the flowchart also presents AMH as a prognostic marker for prepubertal children, whereas it remains unclear what the prognostic value of AMH is in this group. Furthermore, AMH levels measured at different time points can vary considerably in the same patient, due to biological variability and inter-test variability of AMH assays. Therefore, adequate interpretation of AMH levels in this group is difficult. FP counseling in young TS patients is challenging and reliable predictive parameters are required to optimize this process. AMH should be interpreted with caution, due to its known limitations.

The Prevalence and Type of Congenital Heart Diseases in Cytogenetic and Monogenic Chromosomal Rearrangements

In this study, it was aimed to investigate the pattern of congenital heart diseases in cytogenetic and monogenic chromosomal rearrangements. The pediatric age group patients who had been followed between January 2009 and December 2014 by the Genetic Department because of their syndromic manner were enrolled in the study. A total of 301 patients with clinical features were evaluated for cardiac diseases. Echocardiography and standard karyotype studies were performed in all patients. Statistically significant difference of congenital heart disease prevalence between numerical and structural chromosomal abnormalities was found in terms of appearance (p < 0.001). Congenital heart diseases prevalence was 62.5% in trisomy 21, 91% in trisomy 18, and 100% in trisomy 13. Fourteen percent of Turner syndrome patients and 8% of patients with other sex chromosome abnormalities had congenital heart diseases. VACTERL association and DiGeorge syndrome were accompanied by congenital heart diseases with the same rate of 73%. Congenital heart diseases prevalence was 50% among the Williams syndrome patients and 42.4% among the Noonan syndrome patients. There was dilated cardiomyopathy in a patient who was diagnosed with Alstrom syndrome. The prevalence of congenital heart diseases in derivative chromosomal anomalies was statistically significantly higher than the other chromosomal abnormalities with the rate of 62.5% (p < 0.001). Complex cardiac malformations are seen in patients with autosomal chromosomal aneuploidies rather than in patients with sex chromosomal aneuploidies and single gene mutations. CHD has been found with a higher rate in patients with derivative chromosome abnormalities compared with the other structural chromosome abnormalities like deletion, inversion, and translocation. We believe that the patients who are diagnosed with derivative chromosomal abnormalities as a result of genetic testing should be considered for cardiac malformations.

Musculoskeletal changes and pain in Parsonage Turner syndrome patients: integrative review

ABSTRACT BACKGROUND AND OBJECTIVES: Parsonage Turner Syndrome (PTS) is rare, with an incidence of 2 to 3 cases per 100,000 individuals per year. It's accompanied by intense, self-limiting pain, disappearing after weeks, followed by muscle weakness. The aim of the present study was to describe the musculoskeletal changes, muscle variations, and the pain scenario affected by the syndrome. METHODS: Integrative review performed in the LILACS, Scielo and Pubmed databases. The inclusion criteria established were case studies, case series, clinical trials and cohort studies in Portuguese, English and Spanish languages, published between 2010 and 2020, which addressed the muscle changes and pain caused by PTS. RESULTS: Seven scientific articles that met the inclusion criteria were analyzed, with a total sample of 183 patients aged between 7 and 65 years. CONCLUSION: Generally, patients present alterations of the posterior interosseous nerves, anterior interosseous, axillary, long thoracic and suprascapular, muscular atrophy of the deltoid, supraspinal and infraspinal regions, with pain lasting an average of 15 days in the shoulder and scapular regions.

Distal Radius Fraktürü Ve Şiddetli Osteoporoz Saptanan Primer Amenoresi Olan Bir Turner Sendromu Olgusu

Turner Syndrome (TS) is partial or total monosomy X with a prevalence of 2500/1 and characterized by premature ovarian failure, short stature, and multiple skeletal anomalies and is also called congenital ovarian dysplasia. Delayed puberty and estrogen deficiency are some of the determining factors for Osteoporosis formation in TS. Bone mineral density is among the best parameters to evaluate the bone mineral condition. Most female TS patients need estrogen replacement treatment to stimulate and continue feminization and to prevent osteoporosis. Forty-two years-old patient with TS was admitted to our clinic for rehabilitation following a right distal radius fracture occurring when she was trying to get up from the floor trying to get support from her right hand. The patient with primary amenorrhea wasn't admitted to the hospital before except her admittance for amenorrhea when she was 20 years old and was diagnosed with Turner syndrome. In her bone mineral density (DXA) measurement, L2-L4 vertebra BMD T-score was -4.0 (0.719 g/cm), Z score was -3.8, total femur T-score was 1.7 (0.788 g/cm) and femur neck T score was -1.7 (0.799). No pathological vertebral fractures were detected. The patient was given oral risedronate sodium 35 mg and calcium 1200 mg vitD 3 880 IU/day treatment for osteoporosis and followed-up. Our aim in this case presentation was to present the fact that severe osteoporosis and fracture may occur unless early hormone replacement treatment is started in a primary amenorrheic patient with Turner Syndrome.

The current status of 492 adult women with Turner syndrome: a questionnaire survey by the Foundation for Growth Science

Current status and its background of Adult Turner Syndrome (TS) are not clarified well. Via a questionnaire survey of 492 adult women with TS, this study investigated the association between menstruation, Kaufmann therapy (menstrual induction therapy), social status (education, employment & marriage), complications, transition from pediatric to adult care, and sex chromosome karyotype using statistical methods. Spontaneous menarche occurred in 22.0% and more frequently among patients with the 45,X/46,XX karyotype. Over 60% of these subjects, menstruation did not persist regularly. Kauffmann therapy was performed in 69.4%; the most common formulation was a conjugated estrogen and progesterone combination. Marriage and higher education advancement rates were low in adults with TS, whereas their employment rate was similar to that of the age-matched general female population. Patients receiving Kauffmann therapy had higher complication rates, greater education length, and higher employment rates. The higher-education advancement rate was observed among patients with 45,X/46,X,Xi and 46,X,Xi karyotypes. Transition from pediatrician to adult specialist was not smooth, subjects were treated in pediatric departments (60.7%), gynecological department (21.4%), internal medicine departments (13.3%), and others. While reason is not clear, the largest number of TS patients are treated in general pediatrics and the percentage of receiving Kauffmann therapy and having complication were significantly lower than in pediatric and adult department of endocrinology (& metabolism). This Study revealed many novel findings of adult TS.

Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report

BackgroundTurner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who present structural alterations in autosomal chromosomes.Case presentationThe present case report describes a patient with a reciprocal, maternally inherited translocation between chromosomes 2 and 12 with a mosaicism of X monosomy 45,X,t(2;12)(p13;q24)[95]/46,XX,t(2;12)(p13;q24)[5]. Through genetic mapping arrays, altered genes in the patient were determined within the 23 chromosome pairs. These genes were associated with the patient’s clinical features using a bioinformatics tool.ConclusionTo our knowledge, this is the first case in which a translocation (2;12) is reported in a patient with Turner syndrome and confirmed by conventional cytogenetics, FISH and molecular genetics. Clinical features of our patient are closely related with the loss of one X chromosome, however mild intellectual disability can be likely explained by autosomal genes. The presence of familial translocations was a common finding, thus emphasizing the need for familiar testing for further genetic counselling.

Clinical application of an automatic facial recognition system based on deep learning for diagnosis of Turner syndrome.

Automated facial recognition technology based on deep learning has achieved high accuracy in diagnosing various endocrine diseases and genetic syndromes. This study attempts to establish a facial diagnostic system for Turner syndrome (TS) based on deep convolutional neural networks. Photographs of 207 TS patients and 1074 female controls were collected from July 2016 to April 2019. Finally, 170 patients diagnosed with TS and 1053 female controls were included. Deep convolutional neural networks were used to develop the facial diagnostic system. A prospective study, which included two TS patients and 35 controls, was conducted to test the efficacy in the real clinical setting. The average areas under the curve (AUCs) in three different scenarios were 0.9540 ± 0.0223, 0.9662 ± 0.0108 and 0.9557 ± 0.0119, separately. The average sensitivity and specificity of the prospective study were 96.7% and 97.0%, respectively. The facial diagnostic system achieved high accuracy. Prospective study results demonstrated the application value of this system, which is promising in the screening of Turner syndrome.

The QT Interval in Patients With the Turner Syndrome

Patients with the Turner syndrome (TS) often have longer QT intervals compared with age-matched peers although the significance of this remains unknown. We sought to determine the degree, frequency and impact of QTc prolongation in patients with TS. A chart review of all patients with an electrocardiogram (ECG) and genetically proven TS was performed. Medications at the time of the ECG were reviewed and QTc calculated. Medications were classified according to QTc risk using www.crediblemeds.com. ECG parameters were compared with an age, gender, and cardiac lesion-matched control group. Over the 10-year period of review, 112 TS patients with a mean age of 34 ± 25 years underwent 226 ECGs. At least 1 QTc prolonging medication was prescribed in 81 (74%) patients. Longer QTc interval correlated with absence of y chromosomal material (p = 0.01), older age (p <0.0001), increased number of QTc prolonging and nonprolonging medications (p <0.0001 each). During the 7.0 ± 5.1 years of follow-up, no patient had ventricular arrhythmia or unexplained sudden death. QTc was significantly shorter in matched controls using either Bazett or Hodges formula (424 ± 16 ms vs 448 ± 28 ms, p <0.0001; and 414.8 ± 16 ms vs 424.2 ± 20 ms; p = 0.0002, respectively). However, there was no difference in the frequency of QTc prolongation >460 msec (2.8% vs 2.6%, p = 0.9). In conclusion, despite frequent use of QT-prolonging medications, ventricular arrhythmias are rare in TS.

Dilatation of the Ascending Aorta in Turner Syndrome: Influence of Bicuspid Aortic Valve Morphology and Body Composition

Aortic dilatation and bicuspid aortic valve (BAV) are frequent in Turner syndrome (TS). Due to short stature, aortic size index (ASI)-ascending aortic diameter (AD)/body surface area (BSA)-is used to identify aortic dilatation in TS patients. We sought to: 1) describe echocardiographic findings in the largest cohort of Australian women with TS; 2) assess if ASI progresses differently with age in TS BAV compared to non-syndromic BAV; and 3) determine whether adjustment of AD for body composition may be superior to BSA indexation. Transthoracic echocardiography (TTE) data were retrospectively collected on 125 women with TS. Body composition was quantified by dual energy X-ray absorptiometry (DXA) in 60 women within 6 months of baseline TTE. Age-matched females with non-syndromic BAV (n=170) were used as controls for TS patients with BAV. Mean age of TS women was 28±16 years, and mean height and BSA were 141.6±21.7 cm and 1.4±0.4 m2, respectively. Mean AD was 2.5±0.8 cm, and ASI 2.0±0.6 cm/m2. Aortic dilatation (ASI >2.0 cm/m2) was present in 42 (34%) patients. Turner syndrome women with BAV (n=34; 27%) had a larger ASI than those with tri-leaflet AV (2.2±0.4 cm/m2 vs. 1.7±0.3 cm/m2, p<0.001). In the pooled BAV cohort, TS patients had a higher baseline ASI (2.2±0.4 cm/m2 vs. 2.1±0.3 cm/m2, p=0.02) and greater increase in ASI with age (0.21 mm/m2/year vs. 0.10 mm/m2/year, p=0.01) compared to non-syndromic BAV patients. DXA fat-free mass (r=0.33, p=0.01) and lean mass (r=0.32, p=0.02) correlated with AD, as did BSA (r=0.62, p<0.001). Turner syndrome women with BAV have a greater degree of baseline aortic dilatation and a twofold faster increase in aortic dimension with age when compared to matched women with non-syndromic BAV. Several DXA-derived body composition parameters correlate with aortic size in TS, however BSA appears to be the most robust method of indexation.

Clinical characteristics and rate of dilatation in Turner syndrome patients treated for aortic dilatation.

Turner syndrome is associated with an increased risk of aortic aneurysms and dissection. Recent 2017 clinical care guidelines recommend medical therapy to treat aortic dilatation, although whether this slows dilatation is unknown. We aimed to describe a pre-guideline cohort of Turner syndrome patients with aortic dilatation, the rate of dilatation following diagnosis, and post therapy dilatation rates. We conducted a retrospective review of Turner syndrome patients with a dilated aortic root or ascending aorta by current definitions. In total, 40 patients were included with 22 treated patients. Most patients had 45,X karyotype, were white, non-Hispanic, and received both growth hormone and estrogen. Except for hypertension, there were no differences in risk factors among treated and untreated groups. Bicuspid aortic valve was very common. Treatment group patients had significantly more dilated ascending aortas by absolute measurements and aortic size index. In an adjusted model, there was minimal change in aortic measures over time and this was not associated with medication use. In conclusion, in this cohort, Turner syndrome patients with aortic dilatation were more likely to be treated if they had hypertension and if they met multiple dilatation criteria. Further study is needed to establish medical therapy efficacy on dilatation progression.

The influence of growth hormone therapy on the cardiovascular system in Turner syndrome.

Short stature, ovarian dysgenesis, infertility, and cardiovascular malformations are classic features in Turner syndrome (TS), but the phenotypical spectrum is wide. Through early diagnosis and appropriate treatment, TS patients have a chance to achieve satisfactory adult height and sexual development. The doses of recombinant growth hormone (rGH) used are usually higher than the substitution dose. The safety aspects of this therapy are very important, especially in terms of the cardiovascular system. The presented study aimed to analyze how the rGH therapy may influence the cardiovascular system in TS based on current literature data. We conducted a systematic search for studies related to TS, cardiovascular system, and rGH therapy. The results show that rGH seems to have a positive effect on lipid parameters, reducing the risk of ischemic disease. It is additionally optimized by estradiol therapy. Although rGH may increase insulin resistance, the metabolic derangement is rare, probably due to lower fat content and an increase in lean body mass. Several studies showed that rGH treatment could cause aorta widening or increase the aorta growth rate. IGF-1 can be independently associated with increased aortic diameters. The studies analyzing the impact of GH on blood pressure show conflicting data. The proper cardiovascular imaging before and during rGH treatment and detecting the known risk factors for aorta dissection in every individual is very important. The long-term effects of growth hormone treatment on the heart and arteries are still not available and clearly estimated and have to be monitored in the future.

Chromosomal abnormalities and atrial fibrillation and ischemic stroke incidence: a nationwide population-based study

There is a paucity of information as to whether chromosomal abnormalities, including Down Syndrome, Turner Syndrome, and Klinefelter Syndrome, have an association with atrial fibrillation (AF) and ischemic stroke development. Data from 3660 patients with Down Syndrome, 2408 with Turner Syndrome, and 851 with Klinefelter Syndrome without a history of AF and ischemic stroke were collected from the Korean National Health Insurance Service (2007–2014). These patients were followed-up for new-onset AF and ischemic stroke. Age- and sex-matched control subjects (at a ratio of 1:10) were selected and compared with the patients with chromosomal abnormalities. Down Syndrome patients showed a higher incidence of AF and ischemic stroke than controls. Turner Syndrome and Klinefelter Syndrome patients showed a higher incidence of AF than did the control group, but not of stroke. Multivariate Cox regression analysis revealed that three chromosomal abnormalities were independent risk factors for AF, and Down Syndrome was independently associated with the risk of stroke. In conclusion, Down Syndrome, Turner Syndrome, and Klinefelter Syndrome showed an increased risk of AF. Down Syndrome patients only showed an increased risk of stroke. Therefore, AF surveillance and active stroke prevention would be beneficial in patients with these chromosomal abnormalities.