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Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting
Open accessAbstract
Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with The European Society for Pediatric Endocrinology, The Endocrine Society, European Society of Human Reproduction and Embryology, The American Heart Association, The Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society for Endocrinology, the Pediatric Endocrine Society, the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology and the Endocrine Society. Advocacy groups appointed representatives who participated in pre-meeting discussions and in the consensus meeting.
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“Previous guidelines have already addressed this, but numerous important advances have been noted since their publication.1-3”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [1]
In the citing paper
“Comparative studies of karyotype-phenotype in TS are challenged by relatively small cohorts, differences in patient ages, variability in the definition of the clinical features, and general uncertainty regarding the extent of mosaicism in different tissues.1”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [1]
In the citing paper
“In 10%-12% of individuals with TS, a normal or structurally abnormal Y chromosome can be detected by karyotyping, FISH using Y-chromosome probes, PCR with Y-specific probes, or array-comparative genomic hybridization (array-CGH).”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [1]
In the citing paper
“PCR is more sensitive in detecting Y material than FISH”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [1]
In the citing paper
“Studies differ on whether oral E2 vs. TD E2 leads to increased total cholesterol and decreased HDL”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [1]
In the citing paper
“Dose and route of E2 do not affect glucose and insulin concentration and tolerance”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [1]
In the citing paper
“Inadequate weight gain is common, with estimates of up to half of all infants with TS experiencing failure to thrive.1”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [1]
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A Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome
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Manotas, M. C., Calderón, J. C., López-Kleine, L., Suárez-Obando, F., Moreno, O. M., & Rojas, A. P. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1503 · Cited by 14
Chiarito, M., Piacente, L., Chaoul, N., Pontrelli, P., D’Amato, G., Grandone, A., Russo, G., Street, M. E., Wasniewska, M. G., Brunetti, G., et al. (2022) · Journal of Endocrinological Investigation · doi:10.1007/s40618-022-01760-3 · Cited by 15
Dowlut‐McElroy, T., Davis, S., Howell, S., Gutmark‐Little, I., Bamba, V., Prakash, S. K., Patel, S. R., Fadoju, D., Vijayakanthi, N., Haag, M. M., et al. (2022) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2022.07.004 · Cited by 15
Caring for individuals with a difference of sex development (DSD): a Consensus Statement
Cools, M., Nordenström, A., Robeva, R. N., Hall, J., Westerveld, P., Flück, C., Kohler, B., Berra, M., Springer, A., SCHWEIZER, K. W., et al. (2018) · Yearbook of pediatric endocrinology · doi:10.1530/ey.15.6.20 · Cited by 14
Vascular dissection in women with Turner syndrome
Yetman, A. T., Bisselou, K. S., Sanmann, J. N., Katz, R. J., Steingraeber, C. J., Wilde, M., Murray, M. A., & Starr, L. J. (2020) · International Journal of Cardiology · doi:10.1016/j.ijcard.2020.10.009 · Cited by 14
Less ready for adulthood?—Turner syndrome has an impact on transition readiness
Culen, C., Herle, M., Ertl, D., Fröhlich‐Reiterer, E., Blümel, P., Wagner, G., & Häusler, G. (2020) · Clinical Endocrinology · doi:10.1111/cen.14293 · Cited by 13
Influence of pregnancy on aortic diameter in women with the Turner syndrome
Kooijman, S. S., Duijnhouwer, A. L., van Kimmenade, R. R. J., van Dijk, A. P. J., Hink, E., de Boer, M.-J., Timmermans, J., & Roos-Hesselink, J. W. (2021) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2020.10.047 · Cited by 13
Nadesapillai, S., Mol, F., Broer, S. L., Stevens Brentjens, L. B. P. M., Verhoeven, M. O., Heida, K. Y., Goddijn, M., van Golde, R. J. T., Bos, A. M. E., van der Coelen, S., et al. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12206502 · Cited by 13
Hypertension in Turner syndrome: a review of proposed mechanisms, management and new directions
Jones, L., Blair, J., Hawcutt, D. B., Lip, G. Y. H., & Shantsila, A. (2023) · Journal of Hypertension · doi:10.1097/hjh.0000000000003321 · Cited by 13
No QTc prolongation in girls and women with Turner syndrome
Noordman, I. D., Duijnhouwer, A. L., Coert, M., Bos, M., Kempers, M., Timmers, H. J. L. M., Fejzic, Z., van der Velden, J. A. E. M., & Kapusta, L. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa552 · Cited by 13
Cheng, J., Ruan, X., Du, J., Jin, F., Gu, M., Wu, Y., & Mueck, A. O. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.959912 · Cited by 13
Brun, S., Berglund, A., Mortensen, K. H., Hjerrild, B. E., Hansen, K. W., Andersen, N. H., & Gravholt, C. H. (2019) · Clinical Endocrinology · doi:10.1111/cen.13983 · Cited by 13
Self-citationTurner syndrome: fertility counselling in childhood and through the reproductive lifespan
Bollig, K. J., Mainigi, M. A., Senapati, S., Lin, A. E., Levitsky, L. L., & Bamba, V. (2022) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0000000000000784 · Cited by 13
Self-citationFertility and pregnancy outcomes in women with Turner syndrome: A single centre experience
Burt, E., Davies, M. C., Yasmin, E., Cameron‐Pimblett, A., Talaulikar, V. S., Rosa, C. L., Clarke, S. A., & Conway, G. S. (2024) · Clinical Endocrinology · doi:10.1111/cen.15078 · Cited by 13
Self-citationClinical dilemmas in ovarian tissue cryopreservation
Dunlop, C. E., & Anderson, R. A. (2024) · Fertility and Sterility · doi:10.1016/j.fertnstert.2024.05.167 · Cited by 13
Puberty progression in girls with Turner syndrome after ovarian tissue cryopreservation
van der Coelen, S., Nadesapillai, S., Peek, R., Braat, D., Bocca, G., Finken, M. J. J., Hannema, S. E., de Kort, S., Sas, T., Straetemans, S., et al. (2024) · Fertility and Sterility · doi:10.1016/j.fertnstert.2024.10.025 · Cited by 13
Self-citationSalzillo, C., Verde, M. L., Imparato, A., Molitierno, R., Lucà, S., Pagliuca, F., & Marzullo, A. (2024) · Medicina · doi:10.3390/medicina60121976 · Cited by 13
Hypogonadism in adolescent girls: treatment and long-term effects.
Voutsadaki, K., Matalliotakis, M., & Ladomenou, F. (2022) · Acta bio-medica dell'Ateneo parmense/Acta biomedica · doi:10.23750/abm.v93i5.13719 · Cited by 13
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Szybiak, W., Kujawa, B., Miedziaszczyk, M., & Łącka, K. (2023) · Pharmaceuticals · doi:10.3390/ph16091320 · Cited by 13
Corbitt, H., Maslen, C. L., Prakash, S., Morris, S. A., & Silberbach, M. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38584 · Cited by 14
Self-citationMosaic Turner Syndrome Presenting with a 46,XY Karyotype
Rasouli, M. A., McDaniel, K. E., Awadalla, M. S., & Chung, K. (2019) · Case Reports in Obstetrics and Gynecology · doi:10.1155/2019/3719178 · Cited by 13
Growth of the thoracic aorta in the smoking population: The Danish Lung Cancer Screening Trial
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Elchuri, S. V., & Momen, J. (2020) · Primary Care Clinics in Office Practice · doi:10.1016/j.pop.2020.02.001 · Cited by 13
45,X mosaicism in a population-based biobank: implications for Turner syndrome
Prakash, S. K., Crenshaw, M., Backeljauw, P. F., Silberbach, M., Scurlock, C., Culin, D. D., Ranallo, K. C., & Lin, A. E. (2018) · Genetics in Medicine · doi:10.1038/s41436-018-0411-z · Cited by 13
Self-citationSheanon, N., Elder, D., Khoury, J., Casnellie, L., Gutmark-Little, I., Cernich, J., & Backeljauw, P. F. (2021) · Hormone Research in Paediatrics · doi:10.1159/000520233 · Cited by 12
Self-citationBackeljauw, P., Blair, J. C., Ferran, J.-M., Kelepouris, N., Miller, B. S., Pietropoli, A., Polak, M., Sävendahl, L., Verlinde, F., & Rohrer, T. R. (2023) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad159 · Cited by 12
Self-citationde Brouwer, I. J., Suijkerbuijk, M., van de Grift, T. C., & Kreukels, B. P. C. (2022) · Journal of Adolescent Health · doi:10.1016/j.jadohealth.2022.07.012 · Cited by 12
Autoimmune disease in Turner syndrome in Sweden: an up to 25 years’ controlled follow-up study.
Naessén, S., Eliasson, M., Berntorp, K., Kitlinski, M., Trimpou, P., Amundson, E., Thunström, S., Ekman, B., Wahlberg, J., Karlsson, A., et al. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad566 · Cited by 12
Cleemann Wang, A., Hagen, C. P., Nedaeifard, L., Juul, A., & Jensen, R. B. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa274 · Cited by 12
Metadata
- Authors
- Gravholt, C. H., Andersen, N. H., Conway, G. S., Dekkers, O. M., Geffner, M. E., Klein, K. O., Lin, A. E., Mauras, N., Quigley, C. A., Rubin, K., Sandberg, D. E., Sas, T. C. J., Silberbach, M., Söderström-Anttila, V., Stochholm, K., van Alfen-van derVelden, J. A., Woelfle, J., Backeljauw, P. F., & _, _.
- Affiliations
- 1Departments of Endocrinology and Internal Medicine
- Aarhus University Hospital (DK)
- University College London (GB)
- Leiden University Medical Center (NL)
- Children's Hospital Los Angeles (US)
- University of California San Diego (US)
- Massachusetts General Hospital (US)
- Nemours Children's Health System (US)
- 10St Hubert’s Island, New South Wales, Australia
- Connecticut Children's Medical Center (US)
- University of Michigan (US)
- Erasmus MC - Sophia Children’s Hospital (NL)
- Doernbecher Children's Hospital (US)
- 16Väestöliitto Fertility Clinics, Helsinki, Finland
- 18Department of Pediatric Endocrinology, Radboud University Medical Center, Amalia Children’s Hospital, Nijmegen, The Netherlands
- University of Bonn (DE)
- Cincinnati Children's Hospital Medical Center (US)
- Corresponding author
- Gravholt, Claus H
- ORCID
- Venue
- European Journal of Endocrinology
- Publisher
- Oxford University Press (OUP)
- Published
- 2017-09
- Volume
- 177
- Issue
- 3
- Pages
- G1-G70
- ISSN
- 0804-4643 (ISSN-L)
- 1479-683X
- OpenAlex
- W2735815275
- Cited by
- 1,101
- References
- 580
- Citations by year
- 2026: 37 · 2025: 82 · 2024: 170 · 2023: 159 · 2022: 123 · 2021: 144 · 2020: 148 · 2019: 151 · 2018: 74 · 2017: 9
- FWCI
- 13.52
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- European Journal of Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion)
- Scopus (Elsevier) (submittedVersion)
- Funders
- Novo Nordisk Fonden (NNF13OC0003234, NNF15OC0016474)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R13HD089663)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- Turner syndrome, short stature, infertility, hypertension, hormone replacement therapy, cardiovascular disease, adult care, transition to adult care, neurocognitive function, comorbidities, growth and development, multidisciplinary care
- MeSH terms
- Congresses as Topic, Europe, Female, Patient Care, Humans, Ohio, Turner Syndrome, United States, Women, Practice Guidelines as Topic
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