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Turners Syndrome

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1. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting Full Text available with Trip Pro

% 45,X mosaicism (⨁⨁◯◯). R 1.3. We suggest that the new general surveillance management guideline apply to TS patients with any karyotype (⨁⨁◯◯). 1.1.1. Definition Turner syndrome is a chromosomal disorder that affects phenotypic females who have one intact X chromosome and complete or partial absence of the second sex chromosome in association with one or more clinical manifestations ( ). Although the traditional definition of TS implies the presence of physical features such as the characteristic (...) Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting in: European Journal of Endocrinology Volume 177 Issue 3 Year 2017 This site uses cookies, tags, and tracking settings to store information that help give you the very best browsing

2016 European Society of Human Reproduction and Embryology

2. Turner's syndrome

Turner's syndrome Turner's syndrome - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Turner's syndrome Last reviewed: February 2019 Last updated: January 2018 Summary Chromosomal abnormality involving a complete or partial absence of the second sex chromosome, occurring in approximately 1 in 2500 live female births. Characteristic clinical features include short stature and premature ovarian failure in a phenotypic (...) ovarian failure. Ullrich O. Uber typische Kombinationsbilder multipler Abartungen. Z. Kinderheilk. 1930;49:271-276. Turner HH. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology. 1938;23:566-574. Bondy CA; Turner Syndrome Consensus Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007 Jan;92(1):10-25. http://press.endocrine.org/doi/full/10.1210/jc.2006-1374 http://www.ncbi.nlm.nih.gov

2018 BMJ Best Practice

4. Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association Full Text available with Trip Pro

Kadian-Dodov , Leo Lopez , Kristian H. Mortensen , Siddharth K. Prakash , Elizabeth V. Ratchford , Arwa Saidi , Iris van Hagen , Luciana T. Young , and Originally published 24 Sep 2018 Circulation: Genomic and Precision Medicine. 2018;11 Abstract Girls and women with Turner syndrome face a lifelong struggle with both congenital heart disease and acquired cardiovascular conditions. Bicuspid aortic valve is common, and many have left-sided heart obstructive disease of varying severity, from hypoplastic (...) left-sided heart syndrome to minimal aortic stenosis or coarctation of the aorta. Significant enlargement of the thoracic aorta may progress to catastrophic aortic dissection and rupture. It is becoming increasingly apparent that a variety of other cardiovascular conditions, including early-onset hypertension, ischemic heart disease, and stroke, are the major factors reducing the life span of those with Turner syndrome. The presentations and management of cardiovascular conditions in Turner

2018 American Heart Association

5. European Society of Endocrinology Clinical practice guidelines for the care of girls and women with Turner syndrome

% 45,X mosaicism (⨁⨁◯◯). R 1.3. We suggest that the new general surveillance management guideline apply to TS patients with any karyotype (⨁⨁◯◯). 1.1.1. Definition Turner syndrome is a chromosomal disorder that affects phenotypic females who have one intact X chromosome and complete or partial absence of the second sex chromosome in association with one or more clinical manifestations ( ). Although the traditional definition of TS implies the presence of physical features such as the characteristic (...) European Society of Endocrinology Clinical practice guidelines for the care of girls and women with Turner syndrome Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting in: European Journal of Endocrinology Volume 177 Issue 3 Year 2017 This site uses cookies, tags, and tracking settings to store information that help give you the very best browsing experience. If you don't change your

2017 European Society of Endocrinology

6. Hepatocellular Carcinoma, Virilization, and Hilus Cell Hyperplasia in a Girl With Turner Syndrome Full Text available with Trip Pro

Hepatocellular Carcinoma, Virilization, and Hilus Cell Hyperplasia in a Girl With Turner Syndrome Patients with Turner syndrome (TS) are known to be at risk for excess androgen production and virilization associated with gonadoblastoma and Y chromosome mosaicism, and excess androgens are a risk factor for the development of hepatocellular carcinoma. However, virilization and hepatocellular carcinoma have not been described in a patient with TS. A 10-year-old with nonmosaic 45,X TS presented

2018 Journal of the Endocrine Society

8. Determinants of Increased Aortic Diameters in Young Normotensive Patients With Turner Syndrome Without Structural Heart Disease. (Abstract)

Determinants of Increased Aortic Diameters in Young Normotensive Patients With Turner Syndrome Without Structural Heart Disease. Factors associated with aortic dilation and dissection in patients with Turner syndrome (TS) remain unclear. We assessed magnetic resonance imaging-based aortic diameters at nine predefined anatomic positions and examined associations of increased aortic diameters with B-type natriuretic peptide (BNP), A-type NP (ANP), growth hormone treatment, insulin-like growth

2018 Pediatric Cardiology

9. Atypical phenotypic aspects of autoimmune thyroid disorders in young patients with Turner syndrome Full Text available with Trip Pro

Atypical phenotypic aspects of autoimmune thyroid disorders in young patients with Turner syndrome Aim of this commentary is to analyze the current views about the phenotypic features of Hashimoto's thyroiditis (HT) and Graves' disease (GD) in Turner syndrome (TS) girls, in terms of epidemiology, clinical and biochemical presentation, long-term course and metamorphic autoimmunity evolution. In TS GD course is not atypical, whereas HT course is characterized by both a mild presenting picture (...) and a severe long-term evolution of thyroid function tests. Furthermore, TS girls seem to have an increased risk of switching over time from HT to GD. On the light of these findings, it may be concluded that TS girls with HT need a careful monitoring of thyroid status over time.1) In children the association with TS is able to condition a peculiar phenotypic expression of HT in terms of epidemiology, presentation course and long-term metamorphic autoimmunity; 2) by contrast, children with TS do not exhibit

2018 Italian journal of pediatrics

10. Growth Hormone Supplementation and Psychosocial Functioning to Adult Height in Turner Syndrome: A Questionnaire Study of Participants in the Canadian Randomized Trial. Full Text available with Trip Pro

Growth Hormone Supplementation and Psychosocial Functioning to Adult Height in Turner Syndrome: A Questionnaire Study of Participants in the Canadian Randomized Trial. Despite the long-held belief that growth hormone supplementation provides psychosocial benefits to patients with Turner syndrome (TS), this assumption has never been rigorously tested in a randomized control trial. As a sub-study of the Canadian growth-hormone trial, parent-, and patient-completed standardized questionnaires were (...) with multiple parent- and/or self-reported indices from the four psychosocial domains, whereas in C, only adult height and two indices (viz., total self-concept and school functioning), were correlated. The observed modest gains in psychosocial functioning for patients with TS treated with GH highlight the need for alternative approaches to assist them in coping with the challenges of their condition.

2019 Frontiers in endocrinology Controlled trial quality: uncertain

11. X-chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood. (Abstract)

X-chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood. Objective Turner Syndrome is associated with several phenotypic conditions associated with a higher risk of subsequent comorbidity. We aimed to evaluate the prevalence of congenital malformations and the occurrence of age-related comorbid conditions, and to determine whether the frequencies of congenital and acquired (...) ). Results Median age was 9.4 (3.7-13.7) years at first evaluation, and 16.8 (11.2-21.4) years at last evaluation. Congenital heart (18.9%) malformations were more frequent in 45,X patients, and congenital renal (17.2%) malformations were more frequent in 45,X, 45,X/46,isoXq and XrX patients than in those with 45,X/46,XX mosaicism or a Y chromosome (p < 0.0001). The cumulative incidence of subsequent acquired conditions, such as thyroid disease, hearing loss, overweight/obesity, dyslipidemia

2019 European Journal of Endocrinology

12. Turner syndrome: mechanisms and management. (Abstract)

Turner syndrome: mechanisms and management. Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mosaic karyotypes. Turner syndrome is associated with short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital malformations of the heart, endocrine disorders such as type 1 and type 2 diabetes mellitus, osteoporosis and autoimmune disorders. Morbidity and mortality (...) an updated Review of Turner syndrome, covering advances in genetic and genomic mechanisms of disease, associated disorders and multidisciplinary approaches to patient management, including growth hormone therapy and hormone replacement therapy.

2019 Nature reviews. Endocrinology

13. Medical and gynecological comorbidities in adult women with Turner syndrome: our multidisciplinary clinic experience. (Abstract)

Medical and gynecological comorbidities in adult women with Turner syndrome: our multidisciplinary clinic experience. Objective: Women with Turner syndrome (TS) are at increased risk for chronic health conditions. Reports describing the presence of comorbidities in older adult women with TS are limited. This study aimed to examine the prevalence of endocrine, gynecological, and other chronic medical conditions in a cohort of adult TS patients. Methods: A retrospective chart review was conducted (...) abnormalities, and 9% had celiac disease. Conclusions: The results of this study indicate a high prevalence of medical conditions in women with TS, especially those ≥40 years of age. Our study underscores the importance of multidisciplinary adult TS clinics for ongoing screening and management of comorbidities.

2019 Climacteric

14. Near Adult Height in Girls with Turner Syndrome Treated with Growth Hormone Following Either Induced or Spontaneous Puberty. (Abstract)

Near Adult Height in Girls with Turner Syndrome Treated with Growth Hormone Following Either Induced or Spontaneous Puberty. To understand whether spontaneous vs induced puberty and the type and route of estrogen influence the height of girls with Turner syndrome on growth hormone (GH).Search of an international database of children treated with GH revealed 772 girls with Turner syndrome followed from GH initiation to near adult height. Data from girls with sustained spontaneous puberty (n (...) comparable. A 45,X karyotype was detected in 22.1% of girls with spontaneous puberty and in 58.4% of girls with induced puberty. Patients receiving transdermal estrogens did not grow better than those on oral estrogens. Adverse event reporting was comparable between groups.Girls with Turner syndrome with spontaneous puberty tended to grow better in response to GH than girls with induced puberty, but not enough to produce a difference in height SDS at near adult height.Copyright © 2019 Elsevier Inc. All

2019 Journal of Pediatrics

15. The pubertal development mode of Chinese girls with turner syndrome undergoing hormone replacement therapy. Full Text available with Trip Pro

The pubertal development mode of Chinese girls with turner syndrome undergoing hormone replacement therapy. Further knowledge about the pubertal development mode of girls with Turner syndrome (TS) who have undergone hormone replacement therapy (HRT) is beneficial to the proposal of an optimal HRT regimen. This study examined the pubertal development mode of girls with TS who underwent HRT and evaluated the characteristics of optimal sex induction therapy in girls with TS.We conducted

2019 BMC Endocrine Disorders

16. Hyperandrogenism in a girl with Turner syndrome: A case report. Full Text available with Trip Pro

Hyperandrogenism in a girl with Turner syndrome: A case report. The gonads of patients with Turner syndrome (TS) were previously thought to be funicular. There was no increase in androgen level. The gonad that is testis should be taken into account when the patient's serum testosterone level was abnormal and hypothalamic-pituitary-adrenal disease was excepted.A 16-year-old girl was admitted to our hospital because of chromosomal abnormalities and elevated androgen levels.Turner syndrome could (...) be diagnosed since her chromosome karyotype was 45, XO.The patient was given bilateral gonadectomy and hormone replacement therapies.The level of the patient's serum testosterone was <0.45 nmol/L 2 days after the operation. Postoperative pathology showed that her right gonad was testicular tissue. The patient's menstruation was normal after the treatment of hormone replacement therapy.All TS patients should get Y chromosome material screening. Gonadectomy could be done for Turner syndrome patients who have

2019 Medicine

17. Congenital Heart Surgery Outcomes in Turner Syndrome: The Society of Thoracic Surgeons Database Analysis. (Abstract)

Congenital Heart Surgery Outcomes in Turner Syndrome: The Society of Thoracic Surgeons Database Analysis. Turner syndrome (TS) is a genetic syndrome characterized by monosomy X (45,XO) in phenotypic females and is commonly associated with congenital heart disease. We sought to describe the distribution, mortality, and morbidity of congenital heart surgery in TS and compare outcomes to individuals without genetic syndromes.The Society of Thoracic Surgeons Congenital Heart Surgery Database (...) < .001), aortic arch repair (15.0 [8.0-27.5] days vs 11.0 [7.0-21.0] days, P = .004), and Glenn (9.0 [6.0-16.0] days vs 6.0 [5.0-11.0] days, P = .013).Turner syndrome patients most commonly underwent operations for left-sided obstructive lesions. Despite increased morbidity for select operations, TS was not associated with increased operative mortality.Copyright © 2019 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

2019 Annals of Thoracic Surgery

18. Ovarian follicles of young patients with Turner's syndrome contain normal oocytes but monosomic 45,X granulosa cells. Full Text available with Trip Pro

Ovarian follicles of young patients with Turner's syndrome contain normal oocytes but monosomic 45,X granulosa cells. What is the X chromosomal content of oocytes and granulosa cells of primordial/primary (small) follicles and stromal cells in ovaries of young patients with Turner's syndrome (TS)?Small ovarian follicles were detected in one-half of the patients studied, and X chromosome analysis revealed that most oocytes were normal, granulosa cells were largely monosomic, while stromal cells

2019 Human Reproduction

19. Characteristics and progression of hearing loss in children with turner's syndrome. (Abstract)

Characteristics and progression of hearing loss in children with turner's syndrome. Evaluate patterns of hearing impairment in children with Turner's syndrome (TS) and determine factors influencing severity and progression.Retrospective database review.Demographic, audiological, and medical data for children with TS were extracted from the Audiological and Genetic Database to analyze patterns of hearing loss with comorbidities, demographics, and interventions.Two hundred seventy-two children

2019 Laryngoscope

20. Long-term cortisol exposure and associations with height and comorbidities in Turner syndrome. (Abstract)

Long-term cortisol exposure and associations with height and comorbidities in Turner syndrome. Turner syndrome (TS), a common genetic disorder in women, usually manifests in traits as short stature and premature ovarian failure. Many patients also have an increased risk of cardiometabolic disorders and psychological distress which are features that overlap with those of a prolonged hypercortisolistic state. Long-term cortisol levels in TS are however not explored yet.To investigate whether TS (...) . Interestingly, a higher HCC was inversely associated with height in TS only (standardized β=-.307 , P=.023).Patients with TS are chronically exposed to higher cortisol levels, which is associated with short stature and increased total cholesterol levels, and potentially contributes to the known elevated cardiovascular disease risk.Copyright © 2019 Endocrine Society.

2019 Journal of Clinical Endocrinology and Metabolism

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