Database : MEDLINE
Search on : Turner and Syndrome [Words]
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[PMID]: 29306927
[Au] Autor:Yao R; Yu D; Wang J; Wang X; Shen Y
[Ad] Address:Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, P.R. China.
[Ti] Title:A rare unbalanced Y:autosome translocation in a Turner syndrome patient.
[So] Source:J Pediatr Endocrinol Metab;31(3):349-353, 2018 Mar 28.
[Is] ISSN:2191-0251
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:BACKGROUND: Y:autosome translocations are reported to be associated with male infertility and azoospermia. Female cases with Y:autosome translocation are extremely rare. CASE PRESENTATION: We report a unique case of a rare unbalanced translocation t(Y;13) in a 12-year-old girl with Turner syndrome. Combined cytogenetic testing helped to demonstrate the detail of rare chromosomal structural rearrangement in this patient. CONCLUSIONS: The presented case showed femaleness phenotype and failure of masculinization with presence of Y chromosome and the SRY gene. She was treated with growth hormone (GH) therapy after confirming the presence of only female internal gonad with laparoscopy.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1801
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Process

  2 / 10966 MEDLINE  
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[PMID]: 29521067
[Au] Autor:Jez W; Tobiasz-Adamczyk B; Brzyski P; Majkowicz M; Pankiewicz P; Irzyniec TJ
[Ad] Address:Outpatient Clinic for Women with Turner Syndrome, Specialist Hospital No. 2, Bytom, Poland.
[Ti] Title:Social and medical determinants of quality of life and life satisfaction in women with Turner syndrome.
[So] Source:Adv Clin Exp Med;27(2):229-236, 2018 Feb.
[Is] ISSN:1899-5276
[Cp] Country of publication:Poland
[La] Language:eng
[Ab] Abstract:BACKGROUND: Turner syndrome (TS) appears in women as a result of the lack of part or the whole of one of the X chromosomes. It is characterized by the occurrence of low height, hypogonadism, numerous developmental defects, and is often accompanied by psychological disturbances. OBJECTIVES: Although the phenotype characteristics of women with TS are quite well documented, the knowledge of the impact of Turner syndrome on the satisfaction with life is still insufficient. The aim of our study was to assess the impact of TS on selected variables of quality of life, and hence also life satisfaction in women with this syndrome. MATERIAL AND METHODS: The research was carried out in a group of 176 women with TS starting March 1995. The patients underwent anthropological and medical examinations, and their medical histories were taken using a questionnaire that included demographic and psychosocial items as well as issues related to selected variables of quality of life. In our research model, general life satisfaction was a dependent variable. The statistical analysis was conducted using the eta and Cramer's V correlation coefficients as well as a multidimensional logistic regression model. RESULTS: The main determinants of dissatisfaction with life in women with TS were short stature and feelings of loneliness and being handicapped. CONCLUSIONS: The determinants of life satisfaction in women with Turner syndrome were closely related to the private life of the study participants, in particular self-perception and feelings concerning their health status.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.17219/acem/66986

  3 / 10966 MEDLINE  
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[PMID]: 29300907
[Au] Autor:Soucek O; Schönau E; Lebl J; Willnecker J; Hlavka Z; Sumnik Z
[Ad] Address:Department of Pediatrics, Second Medical Faculty, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
[Ti] Title:A 6-Year Follow-Up of Fracture Incidence and Volumetric Bone Mineral Density Development in Girls With Turner Syndrome.
[So] Source:J Clin Endocrinol Metab;103(3):1188-1197, 2018 Mar 01.
[Is] ISSN:1945-7197
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Context: Patients with Turner syndrome (TS) are at risk for osteoporotic fractures. Objective: The aims of this study were to assess the incidence of clinically important fractures in girls with TS and prospectively describe the development of volumetric bone mineral density (BMD). Design: Peripheral quantitative computerized tomography (pQCT) of the radius every other year over the 6 years of observation. Setting: Government-funded university referral center. Participants: Thirty-two girls with TS, aged 6 to 16 years, were included in the analyses. Fracture incidence was compared with the data in the general population. Bone density and strength were compared with data from 185 healthy girls. Outcomes: The main clinical outcome was the fracture occurrence. The secondary outcomes were the changes in Z-scores of the bone parameters. Results: Three girls with TS sustained four fractures during 6 years of observation. The fracture rate in TS was not substantially higher than the downward-biased fracture-rate estimate from age-matched, healthy controls (P = 0.48). Whereas the trabecular BMD Z-score decreased with age (ß estimate -0.21 ± 0.04, P < 0.001), total bone cross-sectional area correspondingly increased (+0.16 ± 0.04, P < 0.001), which led to normal bone strength. A positive history of incident fractures was not significantly associated with any of the pQCT-derived bone parameters. Conclusions: Current pediatric TS patients that are treated with growth hormone and estrogens are not at risk for osteoporotic fractures. Low BMD in TS may be counterweighted by enlarged bone radius, which leads to normal bone strength at the appendicular skeleton.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.1210/jc.2017-02381

  4 / 10966 MEDLINE  
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[PMID]: 29517175
[Au] Autor:Xue D; Cao DH; Mu K; Lv Y; Yang J
[Ad] Address:Department of Cardiovascular Ultrasound, The First Hospital of China Medical University, Shenyang, China.
[Ti] Title:Mosaic male fetus of Turner syndrome with partial chromosome Y: A case report.
[So] Source:J Obstet Gynaecol Res;, 2018 Mar 08.
[Is] ISSN:1447-0756
[Cp] Country of publication:Australia
[La] Language:eng
[Ab] Abstract:Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal disorder. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported. Here, we report a fetus with a mosaic karyotype: mos 45,X/46,X,del(Y)(q11.21). The fetus was initially misdiagnosed as female with Turner syndrome by both noninvasive prenatal testing and cytogenetic analysis of amniotic fluid and was subsequently found to have male anatomy by antenatal ultrasonography at 24 weeks gestational age. Through single nucleotide polymorphism-array and fluorescence in situ hybridization testing, we found that there was a truncated Y chromosome with sex-determining region Y (SRY) present in some cells of the fetus, which caused the male features in the fetus.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1111/jog.13617

  5 / 10966 MEDLINE  
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[PMID]: 29515055
[Au] Autor:Hanew K; Tanaka T; Horikawa R; Hasegawa T; Yokoya S
[Ad] Address:Growth Hormone Therapy Research Committee, Foundation for Growth Science, Tokyo, Japan.
[Ti] Title:Prevalence of diverse complications and its association with karyotypes in Japanese adult women with Turner syndrome-a questionnaire survey by the Foundation for Growth Science.
[So] Source:Endocr J;, 2018 Mar 07.
[Is] ISSN:1348-4540
[Cp] Country of publication:Japan
[La] Language:eng
[Ab] Abstract:The reported prevalence of complications in Turner Syndrome (TS) was highly variable because of the rarity and the limited numbers analyzed. Again, possible presence of other complications that are not described as specific for TS, is also speculated. To resolve these issues, a questionnaire survey was conducted in hGH treated 492 patients with adult TS (17-42 years). The possible association with these complications and karyotypes were also analyzed. The complications and their prevalence were as follows: chronic thyroiditis (25.2%), inflammatory bowel disease (1.8%), congenital cardiovascular anomaly (11.8%), urinary tract malformation (11.8%), low bone mineral density (BMD) (42.9%), scoliosis (8.4%), hearing loss (6.2%), epilepsy (2.8%) and schizophrenia (0.9%). The majority of prevalence of these diseases in TS was higher than in the general population. In distribution, the most frequent karyotype was 45,X monosomy (28.9%), followed by 45,X/46,X,Xi (16.9%), 46,X,Xi (9.1%), and 45,X/46,XX (6.3%), while other mosaic 45,X was noted in 29.9%. Regarding the karyotype, cardiovascular anomaly was more frequent in the 45,X group and less in the 46,X,Xi group. Urinary tract malformation and epilepsy were frequently associated with the chromosome 45,X. The prevalence of low BMD was noticed more in the chromosome 46,X,Xi and 45,X/46,X,Xi, and less in other mosaic 45,X. In conclusion, the more exact prevalence of diverse complications was clarified and it exceeded the prevalence of the majority of complications in general population. As novel findings, it was observed that the prevalence of epilepsy was significantly high, and epilepsy and low BMD were frequently associated with the specific karyotypes.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1507/endocrj.EJ17-0401

  6 / 10966 MEDLINE  
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[PMID]: 29514898
[Au] Autor:Ertl DA; Gleiss A; Schubert K; Culen C; Hauck P; Ott J; Gessl A; Haeusler G
[Ad] Address:D Ertl, Department of Allergology, Pulmonology and Endocrinology, Medical University of Vienna. University Clinic of Pediatrics and Adolescent Medicine, Vienna, Austria.
[Ti] Title:Health status, quality of life and medical care in adult women with Turner syndrome.
[So] Source:Endocr Connect;, 2018 Mar 07.
[Is] ISSN:2049-3614
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Previous studies have shown that only a minority of patients with Turner syndrome (TS) have adequate medical care after transfer to adult care. AIM OF THIS STUDY: To assess the status of medical care and quality of life (QoL) in adult women diagnosed with TS and followed-up until transfer. To compare the subjective and objective view of the medical care quality and initiate improvements based on patients' experiences and current recommendations. METHODS: 39 adult women with TS out of 64 patients contacted were seen for a clinical and laboratory check, cardiac ultrasound, standardized and structured questionnaires (SF-36v2 and Beck depression inventory). RESULTS: 7/39 of the patients were not being followed medically at all. Only 2/39 consulted all the specialists recommended. Comorbidities were newly diagnosed in 27/39 patients; of these, 11 related to the cardiovascular system. Patients in our cohort scored as high as the mean reference population for SF-36v2 in both mental and physical compartments. Obese participants had lower scores in the physical function section, whereas higher education was related to higher physical QoL scores. Adult height slightly correlated positively with physical health. CONCLUSION: Medical follow-up was inadequate in our study cohort of adults with TS. Even though their medical follow-up was insufficient, these women felt adequately treated, leaving them vulnerable for premature illness. Initiatives in health autonomy and a structured transfer process as well as closer collaborations within specialities are urgently needed.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher

  7 / 10966 MEDLINE  
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[PMID]: 29438552
[Au] Autor:Klein KO; Rosenfield R; Santen RJ; Gawlik A; Backeljauw P; Gravholt CH; Sas T; Mauras N
[Ad] Address:University of California, San Diego & Rady Children's Hospital, San Diego, CA.
[Ti] Title:Estrogen Replacement in Turner Syndrome: Literature Review and Practical Considerations.
[So] Source:J Clin Endocrinol Metab;, 2018 Feb 08.
[Is] ISSN:1945-7197
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Context: Most girls with Turner Syndrome have hypergonadotropic hypogonadism and need hormonal replacement - for induction of puberty and later maintaining secondary sex characteristics, attaining peak bone mass, and uterine growth. The optimal estrogen replacement regimen is still being studied. Evidence Acquisition: We conducted a systematic search of PubMed for research related to TS and puberty, including key words: estrogen, growth, puberty. Evidence Synthesis: The goals of replacement are to mimic normal timing and progression of physical and social development while minimizing risks. Treatment should begin at 11 - 12 years old, with dose increases over 2 - 3 years. Initiation with low doses of estradiol is crucial to preserve growth potential. Delaying estrogen replacement may be deleterious to bone and uterine health. For adults who have undergone pubertal development, we suggest transdermal estrogen and oral progestin and discuss other approaches. We also discuss linear growth, lipids, liver function, blood pressure, neurocognition, socialization, bone and uterine health as related to hormonal replacement. Conclusions: Evidence supports the effectiveness of starting pubertal estrogen replacement with low-dose transdermal estradiol (E2). When transdermal E2 is not available or the patient prefers, evidence supports use of an oral micronized E2 or intramuscular preparation. Only when these are unavailable, should ethinyl estradiol be prescribed. We recommend against the use of conjugated estrogens. Once progestin is added many women prefer the ease of use of a pill containing both an estrogen and progestin. The risks and benefits of different types of preparations, with examples, are discussed.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1210/jc.2017-02183

  8 / 10966 MEDLINE  
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[PMID]: 29339108
[Au] Autor:Noordman I; Duijnhouwer A; Kapusta L; Kempers M; Roeleveld N; Schokking M; Smeets D; Freriks K; Timmers H; van Alfen-van der Velden J
[Ad] Address:Department of Paediatrics, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands.
[Ti] Title:Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations.
[So] Source:Eur J Med Genet;, 2018 Jan 12.
[Is] ISSN:1878-0849
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the association between these features, karyotype and cardio-aortic malformations. METHODS: This prospective study investigated 14 dysmorphic features of TS girls and women using a checklist. Three major phenotypic patterns were recognized (severe phenotype, lymphatic phenotype and skeletal phenotype). Patient data including karyotype and cardio-aortic malformations (bicuspid aortic valve (BAV) and aortic coarctation (COA)) were collected. Associations between the prevalence of dysmorphic features, karyotype and cardio-aortic malformations were analysed using chi -test and odds ratios. RESULTS: A total of 202 patients (84 girls and 118 women) were analysed prospectively. Differences in prevalence of dysmorphic features were found between girls and women. A strong association was found between monosomy 45,X and the phenotypic patterns. Furthermore, an association was found between COA and lymphatic phenotype, but no association was found between karyotype and cardio-aortic malformations. CONCLUSION: This study uncovered a difference in dysmorphic features between girls and women. Monosomy 45,X is associated with a more severe phenotype, lymphatic phenotype and skeletal phenotype. All patients with TS should be screened for cardio-aortic malformations, because in contrast to previous reports, karyotype and cardio-aortic malformations showed no significant association.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180303
[Lr] Last revision date:180303
[St] Status:Publisher

  9 / 10966 MEDLINE  
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[PMID]: 29299618
[Au] Autor:Chew JD; Soslow JH; Thurm C; Hall M; Dodd DA; Feingold B; Simmons J; Godown J
[Ad] Address:Department of Pediatric Cardiology, Monroe Carell Jr. Children's Hospital at Vanderbilt, Vanderbilt University, 2200 Children's Way, Suite 5230 DOT, Nashville, TN, 37232-9119, USA. joshua.d.chew@vanderbilt.edu.
[Ti] Title:Heart Transplantation in Children with Turner Syndrome: Analysis of a Linked Dataset.
[So] Source:Pediatr Cardiol;39(3):610-616, 2018 Mar.
[Is] ISSN:1432-1971
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Turner syndrome (TS) patients with hypoplastic left heart syndrome (HLHS) have poor single ventricle palliation outcomes; therefore, consideration of other potential management strategies is important. Little is known about heart transplantation (HTx) in this group, as standard HTx databases do not allow for identification of TS. This study describes experiences and outcomes of HTx in TS using a unique linkage between the Scientific Registry of Transplant Recipients and the Pediatric Health Information System databases. All pediatric HTx recipients (2002-2016) with TS were identified in the database using ICD-9 code 758.6 (gonadal dysgenesis) in conjunction with female sex. Patient characteristics and outcomes were described. Fourteen patients with TS were identified who underwent 16 HTx procedures at eight centers. For initial HTx, HLHS was the most common indication (10/14) with a median age of 10 months (IQR 3-73 months). Median transplant-free survival following initial HTx was 4.1 years (IQR 16 days-10.5 years), with all deaths occurring in the first year post-HTx. For patients that survived past 1 year (8/14), follow-up ranged from 4.1 to 10.9 years (median 8.0 years) with no deaths observed. Our cohort demonstrates that while there is a clear risk for early mortality, there is the potential for favorable outcomes following HTx in patients with TS. Therefore, TS should not be viewed as an absolute contraindication to HTx, but careful assessment of candidate risk is needed. Primary palliation with HTx for HLHS and TS may be a reasonable consideration given the poor outcomes of single ventricle palliation in this group. Further research is needed to fully delineate the outcomes and characteristics of this unique population.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180303
[Lr] Last revision date:180303
[St] Status:In-Process
[do] DOI:10.1007/s00246-017-1801-8

  10 / 10966 MEDLINE  
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[PMID]: 29243875
[Au] Autor:Corbitt H; Maslen C; Prakash S; Morris SA; Silberbach M
[Ad] Address:Knight Cardiovascular Institute, Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon.
[Ti] Title:Allometric considerations when assessing aortic aneurysms in Turner syndrome: Implications for activity recommendations and medical decision-making.
[So] Source:Am J Med Genet A;176(2):277-282, 2018 Feb.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:In Turner syndrome, the potential to form thoracic aortic aneurysms requires routine patient monitoring. However, the short stature that typically occurs complicates the assessment of severity and risk because the relationship of body size to aortic dimensions is different in Turner syndrome compared to the general population. Three allometric formula have been proposed to adjust aortic dimensions, all employing body surface area: aortic size index, Turner syndrome-specific Z-scores, and Z-scores based on a general pediatric and young adult population. In order to understand the differences between these formula we evaluated the relationship between age and aortic size index and compared Turner syndrome-specific Z-scores and pediatric/young adult based Z-scores in a group of girls and women with Turner syndrome. Our results suggest that the aortic size index is highly age-dependent for those under 15 years; and that Turner-specific Z-scores are significantly lower than Z-scores referenced to the general population. Higher Z-scores derived from the general reference population could result in stigmatization, inappropriate restriction from sports, and increasing the risk of unneeded medical or operative treatments. We propose that when estimating aortic dissection risk clinicians use Turner syndrome-specific Z-score for those under fifteen years of age.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:In-Data-Review
[do] DOI:10.1002/ajmg.a.38584


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