Clinical practice guidelines for the care of girls and women with Turner syndrome
Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, co-morbidities,...
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| Vydáno v: | European journal of endocrinology Ročník 190; číslo 6; s. G53 |
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| Hlavní autoři: | , , , , , , , , , , , , , , , , , , |
| Médium: | Journal Article |
| Jazyk: | angličtina |
| Vydáno: |
England
05.06.2024
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| ISSN: | 1479-683X, 1479-683X |
| On-line přístup: | Zjistit podrobnosti o přístupu |
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| Abstract | Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, co-morbidities, and neurocognition and neuropsychology. Exploratory meetings were held in 2021 in Europe and United States culminating with a consensus meeting in Aarhus, Denmark in June 2023. Prior to this, eight groups addressed important areas in TS care: (1) diagnosis and genetics, (2) growth, (3) puberty and estrogen treatment, (4) cardiovascular health, (5) transition, (6) fertility assessment, monitoring, and counselling, (7) health surveillance for comorbidities throughout the lifespan, and (8) neurocognition and its implications for mental health and well-being. Each group produced proposals for the present guidelines, which were meticulously discussed by the entire group. Four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with systematic review of the literature. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with members from the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology, the European Reference Network on Rare Endocrine Conditions, the Society for Endocrinology, and the European Society of Cardiology, Japanese Society for Pediatric Endocrinology, Australia and New Zealand Society for Pediatric Endocrinology and Diabetes, Latin American Society for Pediatric Endocrinology, Arab Society for Pediatric Endocrinology and Diabetes, and the Asia Pacific Pediatric Endocrine Society. Advocacy groups appointed representatives for pre-meeting discussions and the consensus meeting. |
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| AbstractList | Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, co-morbidities, and neurocognition and neuropsychology. Exploratory meetings were held in 2021 in Europe and United States culminating with a consensus meeting in Aarhus, Denmark in June 2023. Prior to this, eight groups addressed important areas in TS care: (1) diagnosis and genetics, (2) growth, (3) puberty and estrogen treatment, (4) cardiovascular health, (5) transition, (6) fertility assessment, monitoring, and counselling, (7) health surveillance for comorbidities throughout the lifespan, and (8) neurocognition and its implications for mental health and well-being. Each group produced proposals for the present guidelines, which were meticulously discussed by the entire group. Four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with systematic review of the literature. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with members from the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology, the European Reference Network on Rare Endocrine Conditions, the Society for Endocrinology, and the European Society of Cardiology, Japanese Society for Pediatric Endocrinology, Australia and New Zealand Society for Pediatric Endocrinology and Diabetes, Latin American Society for Pediatric Endocrinology, Arab Society for Pediatric Endocrinology and Diabetes, and the Asia Pacific Pediatric Endocrine Society. Advocacy groups appointed representatives for pre-meeting discussions and the consensus meeting.Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, co-morbidities, and neurocognition and neuropsychology. Exploratory meetings were held in 2021 in Europe and United States culminating with a consensus meeting in Aarhus, Denmark in June 2023. Prior to this, eight groups addressed important areas in TS care: (1) diagnosis and genetics, (2) growth, (3) puberty and estrogen treatment, (4) cardiovascular health, (5) transition, (6) fertility assessment, monitoring, and counselling, (7) health surveillance for comorbidities throughout the lifespan, and (8) neurocognition and its implications for mental health and well-being. Each group produced proposals for the present guidelines, which were meticulously discussed by the entire group. Four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with systematic review of the literature. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with members from the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology, the European Reference Network on Rare Endocrine Conditions, the Society for Endocrinology, and the European Society of Cardiology, Japanese Society for Pediatric Endocrinology, Australia and New Zealand Society for Pediatric Endocrinology and Diabetes, Latin American Society for Pediatric Endocrinology, Arab Society for Pediatric Endocrinology and Diabetes, and the Asia Pacific Pediatric Endocrine Society. Advocacy groups appointed representatives for pre-meeting discussions and the consensus meeting. Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, co-morbidities, and neurocognition and neuropsychology. Exploratory meetings were held in 2021 in Europe and United States culminating with a consensus meeting in Aarhus, Denmark in June 2023. Prior to this, eight groups addressed important areas in TS care: (1) diagnosis and genetics, (2) growth, (3) puberty and estrogen treatment, (4) cardiovascular health, (5) transition, (6) fertility assessment, monitoring, and counselling, (7) health surveillance for comorbidities throughout the lifespan, and (8) neurocognition and its implications for mental health and well-being. Each group produced proposals for the present guidelines, which were meticulously discussed by the entire group. Four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with systematic review of the literature. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with members from the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology, the European Reference Network on Rare Endocrine Conditions, the Society for Endocrinology, and the European Society of Cardiology, Japanese Society for Pediatric Endocrinology, Australia and New Zealand Society for Pediatric Endocrinology and Diabetes, Latin American Society for Pediatric Endocrinology, Arab Society for Pediatric Endocrinology and Diabetes, and the Asia Pacific Pediatric Endocrine Society. Advocacy groups appointed representatives for pre-meeting discussions and the consensus meeting. |
| Author | Sas, Theo C J Davis, Shanlee M Sandberg, David E Hong, David Shankar, Roopa Kanakatti Prakash, Siddharth K Fleischer, Kathrin Maciel-Guerra, Andrea T Gravholt, Claus H van der Velden, Janielle A Backeljauw, Philippe F Stochholm, Kirstine Gawlik, Aneta Christin-Maitre, Sophie Andersen, Niels H Duijnhouwer, Anthonie Klein, Karen O Skakkebæk, Anne Gutmark-Little, Iris |
| Author_xml | – sequence: 1 givenname: Claus H orcidid: 0000-0001-5924-1720 surname: Gravholt fullname: Gravholt, Claus H organization: Department of Clinical Medicine, Aarhus University, 8200 Aarhus N, Denmark – sequence: 2 givenname: Niels H surname: Andersen fullname: Andersen, Niels H organization: Department of Cardiology, Aalborg University Hospital, 9000 Aalborg, Denmark – sequence: 3 givenname: Sophie orcidid: 0000-0002-6057-6840 surname: Christin-Maitre fullname: Christin-Maitre, Sophie organization: Endocrine and Reproductive Medicine Unit, Center of Rare Endocrine Diseases of Growth and Development (CMERCD), FIRENDO, Endo ERN Hôpital Saint-Antoine, Sorbonne University, Assistance Publique-Hôpitaux de Paris, 75012 Paris, France – sequence: 4 givenname: Shanlee M surname: Davis fullname: Davis, Shanlee M organization: eXtraOrdinarY Kids Clinic, Children's Hospital Colorado, Aurora, CO 80045, United States – sequence: 5 givenname: Anthonie surname: Duijnhouwer fullname: Duijnhouwer, Anthonie organization: Department of Cardiology, Radboud University Medical Center, Nijmegen 6500 HB, The Netherlands – sequence: 6 givenname: Aneta surname: Gawlik fullname: Gawlik, Aneta organization: Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland – sequence: 7 givenname: Andrea T surname: Maciel-Guerra fullname: Maciel-Guerra, Andrea T organization: Area of Medical Genetics, Department of Translational Medicine, School of Medical Sciences, State University of Campinas, 13083-888 São Paulo, Brazil – sequence: 8 givenname: Iris orcidid: 0000-0003-0135-4516 surname: Gutmark-Little fullname: Gutmark-Little, Iris organization: Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio 45229, United States – sequence: 9 givenname: Kathrin surname: Fleischer fullname: Fleischer, Kathrin organization: Department of Reproductive Medicine, Nij Geertgen Center for Fertility, Ripseweg 9, 5424 SM Elsendorp, The Netherlands – sequence: 10 givenname: David surname: Hong fullname: Hong, David organization: Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94304, United States – sequence: 11 givenname: Karen O surname: Klein fullname: Klein, Karen O organization: Rady Children's Hospital, University of California, San Diego, CA 92123, United States – sequence: 12 givenname: Siddharth K orcidid: 0000-0001-6341-9624 surname: Prakash fullname: Prakash, Siddharth K organization: Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX 77030, United States – sequence: 13 givenname: Roopa Kanakatti orcidid: 0000-0001-9653-8865 surname: Shankar fullname: Shankar, Roopa Kanakatti organization: Division of Endocrinology, Children's National Hospital, The George Washington University School of Medicine, Washington, DC 20010, United States – sequence: 14 givenname: David E orcidid: 0000-0002-7389-8283 surname: Sandberg fullname: Sandberg, David E organization: Division of Pediatric Psychology, Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109-2800, United States – sequence: 15 givenname: Theo C J surname: Sas fullname: Sas, Theo C J organization: Department of Pediatrics, Centre for Pediatric and Adult Diabetes Care and Research, Rotterdam 3015 CN, The Netherlands – sequence: 16 givenname: Anne orcidid: 0000-0001-9178-4901 surname: Skakkebæk fullname: Skakkebæk, Anne organization: Department of Clinical Genetics, Aarhus University Hospital, 8200 Aarhus N, Denmark – sequence: 17 givenname: Kirstine orcidid: 0000-0002-4408-3413 surname: Stochholm fullname: Stochholm, Kirstine organization: Center for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, 8200 Aarhus N, Denmark – sequence: 18 givenname: Janielle A surname: van der Velden fullname: van der Velden, Janielle A organization: Department of Pediatric Endocrinology, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen 6500 HB, The Netherlands – sequence: 19 givenname: Philippe F orcidid: 0000-0003-2398-9520 surname: Backeljauw fullname: Backeljauw, Philippe F organization: Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio 45229, United States |
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| ContentType | Journal Article |
| Contributor | Johannsen, Emma B Smyth, Arlene Brown, Nicole M Mauras, Nelly Brickman, Wendy J Elliott, Victoria Quigley, Charmian Woelfle, Joachim Kruszka, Paul van der Weijde, Berber Kristrøm, Berit Mikkelborg, Trine de Groote, Katya Fechner, Patricia Y Keselman, Ana Bedei, Ivonne Geffner, Mitchell Crenshaw, Melissa L Hutaff-Lee, Christa Balle, Camilla M Davies, Melanie Santen, Richard J Deeb, Asma Isojima, Tsuyoshi Ho, Cindy Turner, Helen Lin, Angela E Fadoju, Doris Bonnard, Åsa Corathers, Sarah D Hewitt, Jacky Knickmeyer, Rebecca Christine Wolstencroft, Jeanne Law, Jennifer Nahata, Leena Avdic, Hanna Bjorlin Bamba, Vaneeta Loechner, Karen Sheanon, Nicole Kremen, Jessica Matthews, Deborah Mortensen, Kristian Havmand Viuff, Mette Hansen Chernausek, Steven Dowlut-McElroy, Tazim Cobbold, Jeremy Alvarez-Nava, Francisco Kawai, Masanobu Norman, Mackenzie Ridder, Lukas O Corpechot, Christophe Gitomer, Sarah Wasniewska, Malgorzata Dessens, Arianne Patel, Sheetal R Verlinde, Franciska |
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| Keywords | co-morbidity hypogonadism neurocognition Turner syndrome infertility cardiovascular health transition |
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| SubjectTerms | Adolescent Adult Child Europe Female Humans Practice Guidelines as Topic - standards Puberty - physiology Turner Syndrome - diagnosis Turner Syndrome - therapy |
| Title | Clinical practice guidelines for the care of girls and women with Turner syndrome |
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| Volume | 190 |
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