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The Changing Face of Turner Syndrome
Open accessAbstract
Turner syndrome (TS) is a condition in females missing the second sex chromosome (45,X) or parts thereof. It is considered a rare genetic condition and is associated with a wide range of clinical stigmata, such as short stature, ovarian dysgenesis, delayed puberty and infertility, congenital malformations, endocrine disorders, including a range of autoimmune conditions and type 2 diabetes, and neurocognitive deficits. Morbidity and mortality are clearly increased compared with the general population and the average age at diagnosis is quite delayed. During recent years it has become clear that a multidisciplinary approach is necessary toward the patient with TS. A number of clinical advances has been implemented, and these are reviewed. Our understanding of the genomic architecture of TS is advancing rapidly, and these latest developments are reviewed and discussed. Several candidate genes, genomic pathways and mechanisms, including an altered transcriptome and epigenome, are also presented.
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“except for SHOX, known to be associated with the decreased height in TS116 (for review see Gravholt et al. 202317).”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [17]
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Cites
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Research works printed but not linked: 3
- Gravholt, 1997, Body composition and physical fitness are major determinants of the growth hormone-IGF axis aberrations in adult Turner syndrome, with important modulations by treatment with 17-beta-estradiol, J Clin Endocrinol Metab., 82, 2570
- Taboada, 2011, Pharmacokinetics and pharmacodynamics of oral and transdermal 17β estradiol in girls with Turner syndrome, J Clin Endocrinol Metab., 96, 3502, 10.1210/jc.2011-1449 · DOI · Paper page
- Gatev, 2021, Autosomal sex-associated co-methylated regions predict biological sex from DNA methylation, Nucleic Acids Res., 49, 9097
Cited by
Sorted by citations
Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224
Organ Abnormalities Caused by Turner Syndrome
Yoon, S. H., Kim, G. Y., Choi, G. T., & Tae, J. (2023) · Cells · doi:10.3390/cells12101365 · Cited by 43
“Although no clinically relevant abnormalities in the GH/insulin-like growth factor (IGF) axis have been reported in patients with TS [5], early recognition and timely investigation of TS can lead to better outcomes.”
BackgroundMethodSociety for endocrinology guideline for understanding, diagnosing and treating female hypogonadism
Jayasena, C. N., Devine, K., Barber, K., Comninos, A. N., Conway, G. S., Crown, A. L., Davies, M. C., Ewart, A., Seal, L., Smyth, A., et al. (2024) · Clinical Endocrinology · doi:10.1111/cen.15097 · Cited by 45
“113,143 Whilst a significant proportion of women with TS are delayed in diagnosis, or undergo pubertal ‐ induction relatively late, and some may never be detected, it is imperative that all women with a diagnosis of TS and POI receive appropriate 17 β ‐ estradiol replacement therapy.”
InfluentialThe risk factors, pathogenesis and treatment of premature ovarian insufficiency
Huang, Y., Liu, Z., Geng, Y., Li, F., Hu, R., Song, Y., Zhang, M., & Song, K. (2025) · Journal of Ovarian Research · doi:10.1186/s13048-025-01714-2 · Cited by 42
“Turner syndrome affects around 64 per 100,000 newborns [12], with over 80% of patients experiencing absent sponta-neous menstruation; even among those with spontane-ous menstruation, about one-third are diagnosed with POI [13].”
Out of the Silence: Insights into How Genes Escape X-Chromosome Inactivation
Peeters, S. B., Posynick, B. J., & Brown, C. J. (2023) · Epigenomes · doi:10.3390/epigenomes7040029 · Cited by 34
“The myriad of clinical presentations of Turner syndrome (TS) in 45,X individuals have long been attributed to the missing escapees from a second sex chromosome (see [45] for a recent review).”
Background
Metadata
- Authors
- Gravholt, C. H., Viuff, M., Just, J., Sandahl, K., Brun, S., van der Velden, J., Andersen, N. H., & Skakkebaek, A.
- Affiliations
- Aarhus University Hospital (DK)
- Department of Pediatrics, Radboud University Medical Centre, Amalia Children’s Hospital , 6525 Nijmegen , the Netherlands
- Aalborg University Hospital (DK)
- Corresponding author
- Gravholt, Claus H
- ORCID
- Venue
- Endocrine Reviews
- Publisher
- The Endocrine Society
- Published
- 2022-06-13
- Volume
- 44
- Issue
- 1
- Pages
- 33-69
- ISSN
- 0163-769X (ISSN-L)
- 1945-7189
- OpenAlex
- W4282821954
- Cited by
- 149
- References
- 426
- Citations by year
- 2026: 25 · 2025: 48 · 2024: 41 · 2023: 32 · 2022: 2
- FWCI
- 4.77
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Endocrine Reviews (publishedVersion)
- PubMed (publishedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- VBN Forskningsportal (Aalborg Universitet) (submittedVersion)
- Funders
- Novo Nordisk Foundation (NNF15OC0016474, NNF20OC0060610)
- Familien Hede Nielsen Foundation
- Independent Research Fund (0134-00406A, 0134-00130B)
- 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, 45,X, short stature, ovarian dysgenesis, infertility, delayed puberty, congenital malformations, autoimmune disease, type 2 diabetes, neurocognitive impairment, morbidity and mortality, multidisciplinary care, genome organization, candidate genes, transcriptome, epigenome
- MeSH terms
- Diabetes Mellitus, Type 2, Endocrine System Diseases, Female, Humans, Infertility, Turner Syndrome
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