The DOI matches its Crossref record; 427 of the 427 references it cites were found in a registry or an index.
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
WGCNA: an R package for weighted correlation network analysis
Langfelder, P., & Horvath, S. (2008) · BMC Bioinformatics · doi:10.1186/1471-2105-9-559 · Cited by 27,252
Gene Action in the X-chromosome of the Mouse (Mus musculus L.)
LYON, M. F. (1961) · Nature · doi:10.1038/190372a0 · Cited by 3,978
X-inactivation profile reveals extensive variability in X-linked gene expression in females
Carrel, L., & Willard, H. F. (2005) · Nature · doi:10.1038/nature03479 · Cited by 2,097
Limitations of the Application of Fourfold Table Analysis to Hospital Data
Berkson, J. (1946) · Biometrics Bulletin · doi:10.2307/3002000 · Cited by 1,810
Non-coding RNAs in Development and Disease: Background, Mechanisms, and Therapeutic Approaches
Beermann, J., Piccoli, M.-T., Viereck, J., & Thum, T. (2016) · Physiological Reviews · doi:10.1152/physrev.00041.2015 · Cited by 1,743
Brown, C. J., Ballabio, A., Rupert, J. L., Lafrenière, R. G., Grompe, M., Tonlorenzi, R., & Willard, H. F. (1991) · Nature · doi:10.1038/349038a0 · Cited by 1,532
A SEX-CHROMOSOME ANOMALY IN A CASE OF GONADAL DYSGENESIS (TURNER'S SYNDROME)
Ford, C. E. (1959) · The Lancet · doi:10.1016/s0140-6736(59)91893-8 · Cited by 1,359
2020 International Society of Hypertension global hypertension practice guidelines
Unger, T., Borghi, C., Charchar, F., Khan, N. A., Poulter, N. R., Prabhakaran, D., Ramirez, A., Schlaich, M., Stergiou, G. S., Tomaszewski, M., et al. (2020) · Journal of Hypertension · doi:10.1097/hjh.0000000000002453 · Cited by 1,283
Nielsen, J., & Wohlert, M. (1991) · Human Genetics · doi:10.1007/bf01213097 · Cited by 1,193
Landscape of X chromosome inactivation across human tissues
GTEx Consortium, Tukiainen, T., Villani, A.-C., Yen, A., Rivas, M. A., Marshall, J. L., Satija, R., Aguirre, M., Gauthier, L., Fleharty, M., et al. (2017) · Nature · doi:10.1038/nature24265 · Cited by 1,138
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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
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Items 101–148 of 148
Beniczky, N. J., Szücs, N., Gellén, B., & Bertalan, R. Á. (2024) · Orvosi Hetilap · doi:10.1556/650.2024.32998
Manifestações clínicas da Síndrome de Turner: uma revisão de literatura
do Nascimento, M. R. D. A., Faria, T. R., Borges, A. F. M., Oliveira, L. R. M., Pacheco, R. B., Baretta, I. P., Silva, D. G. D. A., & da Silva, J. R. S. (2024) · Brazilian Journal of Health Review · doi:10.34119/bjhrv7n2-045
Peng, Z., Yang, R., Liu, Q. F., Chen, B., & Long, P. (2024) · Molecular Cytogenetics · doi:10.1186/s13039-024-00676-2
Turner syndrome with isochromosome Xq as a cause of granulomatous hepatitis: a case report
Ali, A. F., & Haffar, L. (2024) · Annals of Medicine and Surgery · doi:10.1097/ms9.0000000000002042
“Isochromosome Xq, like in our case, is the most prevalent among the structural X chromosome abnormalities [1] and is the underlying cause in 10% of the cases of TS [10] .”
BackgroundTurner syndrome and metabolic syndrome: A case study
Tian, J., Zhou, C. L., Li, Y., & Xiao, J. (2024) · Asian Journal of Surgery · doi:10.1016/j.asjsur.2024.05.151
Cell Cycle Kinetics and Sister Chromatid Exchange in Mosaic Turner Syndrome
Goulart, M. B., Neto, E. V., Garcia, D. R. N., Guimarães, M. M., de Paiva, I. S., de Ferran, K., dos Santos, N. C. K., Barbosa, L. S., de Figueiredo, A. F., Ribeiro, M. C. M., et al. (2024) · Life · doi:10.3390/life14070848
“…of the genomic imbalance from deleted genes—especially those that escape X inactivation or are in the pseudoautosomal region—but also from epigenetic influences, as X-chromosome and autosomal DNA-methylation and gene expression profiles from TS cells differ from normal female 46,XX cells [8–10].”
BackgroundPeeyananjarassri, K., Klangsin, S., Chumkam, A., Wattanakumtornkul, S., Dhanaworavibul, K., Choksuchat, C., Getpook, C., Matemanosak, P., Charalsawadi, C., & Maisrikhaww, W. (2024) · Journal of obstetrics and gynaecology research · doi:10.1111/jog.16165
“16 In this study, the most common karyotype among women with TS was 45,X following by mosaic karyo-types and structural variants of the second X chromosome.”
[Reflections on the clinical diagnosis and management of Turner syndrome].
Gu, W., & Zhao, X. Y. (2024) · PubMed Central · doi:10.7499/j.issn.1008-8830.2407176 · Cited by 1
Non-coding rnas in Turner syndrome: a systematic review
de Oliveira, J. C. C., Barbosa, E. D. S., Silva, N. B., Silva, T. D. C., Matos, A. G. D. M., & Pinho, J. D. (2024) · Revista Paulista de Pediatria · doi:10.1590/1984-0462/2025/43/2024029
Adult care of Turner syndrome women
Gravholt, C. H. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00164-3
The Nutmeg Lung Pattern in a Fetus with Hypoplastic Left Heart Syndrome and Turner Syndrome
Fricke, K., Tydén, K. Ö., Bergman, G., & Hedström, E. (2025) · Pediatric Cardiology · doi:10.1007/s00246-025-03873-x
“It affects multiple organ systems, including the heart, with a high incidence of left heart lesions including HLHS [7].”
Fontenele, R., Costa‐Barbosa, F. A., Costa‐Santos, M., Batista, R. L., Mermejo, L. M., Mendonca, B. B., de Castro, M., Guerra‐Júnior, G., & Kater, C. E. (2025) · Clinical Endocrinology · doi:10.1111/cen.15261
“In Turner syndrome, for instance, growth hormone and low ‐ dose oestrogen enhance LBG [23], while ultra ‐ low doses of oestrogens administered to prepubertal patients demonstrate a clear growth ‐ promoting effect [24].”
Abnormal PAR1/2 Number Can Influence Effector T Cell Subsets in Turner Syndrome
Miyakoshi, A., Sueyoshi, S., Ijuin, A., Hamada, H., Nishi, M., Tochihara, S., Saito, M., Ueno, H., Kasai, M., Saito, S., et al. (2025) · Molecular Syndromology · doi:10.1159/000546378
“It has been reported that speci fi c karyotype Xp deletions and isochromosome Xq in TS women were more likely to involve concomitant autoimmune thyroid disease than others [15].”
Porto-Sinusoidal Vascular Disorder: An Under-Recognized Liver Manifestation in Turner Syndrome
Siasiakou, S. M., Stoupi, E., Roumpou, A., Papanikolopoulou, A., Syrigos, N. K., TINIAKOS, D. G., & Peppa, Μ. (2025) · Journal of Clinical Medicine · doi:10.3390/jcm14113979
“The median age at diagnosis is 15 years and is characterized by three age peaks: the prenatal period (during screening), between 5 and 20 years (due to short stature or delayed puberty), and between 30 and 40 years (due to infertility) [2].”
FERTILITY AND PARENTING OPTIONS IN TURNER SYNDROME - A REVIEW OF CURRENT POTENTIAL AND LIMITATIONS
Dzwonkowska, A., & Redel, P. (2025) · International Journal of Innovative Technologies in Social Science · doi:10.31435/ijitss.3(47).2025.3505
Unraveling Secondary Amenorrhea Leads to an Unexpected Diagnosis
Hofmann, G. (2025) · Clinical Journal for Nurse Practitioners in Women s Health · doi:10.1891/cjnpwh-2025-0005
Pan, F., Chen, X., Ying, Y., He, D., Di, X.-H., He, Z., Dai, M., & Xu, H. (2025) · Prenatal Diagnosis · doi:10.1002/pd.70002
“The considerable phenotypic variability observed in individuals with sex chromo-someaneuploidies(SCAs)significantlycomplicatesbothprenatal counselling and parental decision‐making after a prenatal SCA diagnosis [21].”
Aortic dissection in a patient with Turner syndrome: a case report
Butenko, D. S., Alekberov, R. I., Spasennikov, V. V., Kleschevnikova, T. M., Talybova, A. Y., & Сабирович, Т. Р. (2025) · Russian Journal of Cardiology · doi:10.15829/1560-4071-2025-6425
A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome
Hinds, D. R., Pimenta, J. M., Low, A., Mittal, D., Gala, S., & Gupta, D. (2025) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.64279 · Cited by 1
Zhao, R., Sun, W., Yang, X., Wu, J., Li, Y., & Zheng, W. (2025) · International Journal of Women s Health · doi:10.2147/ijwh.s542737
“This enhances the possibility of treating infertility in patients with KS. 33 Considering the median age of diagnosis for KS is 27, 14 this also offers an explanation for the comparatively rare occurrence of infertility in elderly patients with the condition.”
Global burden and between‐country inequalities in Turner syndrome from 1990 to 2021
Long, X., Hu, Y., Wu, M., Yang, L., Jin, W., & Han, X. (2025) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1111/aogs.70082
Turner disease: A contemporary clinical approach
Tančić‐Gajić, M., Tesla, B., Miletić, M., Stojanovic, M. M., & Vujović, S. (2025) · Medicinska istrazivanja · doi:10.5937/medi0-57350
Peng, Z., Yang, R., Liu, Q., Chen, B., & Long, P. (2024) · Figshare · doi:10.6084/m9.figshare.25538496
Su, W., Sun, L., Li, Z., Liu, X., Zhang, L., Zhao, X., Fan, S., Li, B., Xie, Y., Xiao, W., et al. (2024) · Figshare · doi:10.6084/m9.figshare.25779277
Hu, F., Wang, Y., Chen, Y., Xu, X., Ding, Y., Ying, L., Zhang, Q., Wang, L., Zhang, Y., Chen, L., et al. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-04137-w
“Approximately half of patients with TS have congenital or acquired cardiovascular diseases, mainly bicuspid aortic valve (BAV), aortic coarctation (CoA), aortic dilation (AD), and partial anomalous pulmonary venous return (PAPVC) [5].”
Li, X., Dai, Y., Chen, J.-Y., Cai, M., Yao, X.-M., & Ge, Y.-S. (2025) · BMC Pregnancy and Childbirth · doi:10.1186/s12884-025-08498-9
Differences and Pathogenicity Between the Gene Mutation and Chromosomal Aberration
Li, M. (2025) · Medical Research Frontiers · doi:10.57237/j.mrf.2025.03.001
“Most human autosomal monosomies die in the embryonic period, and survivors are mainly Turner syndrome (45, X) [31, 32].”
Sex Ratios at Birth Following Non‐Invasive Prenatal Testing in Victoria, Australia
Bowman‐Smart, H., Gyngell, C., Hui, L., Mand, C., Pertile, M. D., Savulescu, J., & Delatycki, M. B. (2026) · Prenatal Diagnosis · doi:10.1002/pd.70076
“Turner syndrome also has a high in utero lethality, and in some cases termination of pregnancy may have been sought based on ultrasound findings such as fetal hydrops or cardiac defects [49].”
Sas, T., & van der Velden, J. A. E. M. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00281-8
Analysis of copy number variations and candidate genes in recurrent pregnancy loss
Wang, L., Yang, L., Li, S., Liu, X., & Tang, P. T. P. (2026) · PeerJ · doi:10.7717/peerj.20889
Reproductive potential in mosaic Turner syndrome: impact of karyotype pattern and mosaicism ratio
Cheng, Y., Cheng, H.-H., Lee, C., Huang, K.-L., Lin, Y., Hsu, T.-Y., & Lan, K. (2026) · Climacteric · doi:10.1080/13697137.2026.2631499
Turner syndrome with giant Graves’ disease: Report of a pediatric case
Yang, G., Zheng, X., Zhang, Y., & Wei, T. (2026) · Asian Journal of Surgery · doi:10.1016/j.asjsur.2026.02.207
Anwar, G. M., Ahmed, W. S., Ibrahim, R. S. M., Kamel, S. M., Thabet, G. M., & Abdou, M. (2026) · Egyptian Pediatric Association Gazette · doi:10.1186/s43054-026-00550-3
Huang, Y., Luo, S., Qi, Y., Qin, S., Yue, C., Lu, Q., Lash, G. E., & Li, L. (2026) · Research Square · doi:10.21203/rs.3.rs-9246643/v1
Genetic and Chromosomal Syndromes in Disability
Malviya, R., & Rajput, S. (2026) · SpringerBriefs in modern perspectives on disability research. · doi:10.1007/978-981-95-9223-4_2
Introduction to Neurogenetic Disability
Malviya, R., & Rajput, S. (2026) · SpringerBriefs in modern perspectives on disability research. · doi:10.1007/978-981-95-9223-4_1
Paland, H., Philipsen, A., & Schulte, E. C. (2026) · Der Nervenarzt · doi:10.1007/s00115-026-01977-0
“Dabei zeigt sich eine Tendenz milderer phänotypischer Merkmale des TS bei nichtklassischen Karyotypen [10] und einer höheren Morbidität und Mortalität bei klassischen 45,X [10].”
InfluentialGrowth hormone therapy in Turner syndrome: Do cytogenetic subtypes influence outcomes?
Herșcovici, I.-I., Pânzaru, M.-C., Constantinescu, G., Leuștean, L., Ungureanu, M.-C., Preda, C., & Rusu, C. (2026) · Endocrinología Diabetes y Nutrición (English ed ) · doi:10.1016/j.endinu.2026.501821
Huang, Y., Luo, S., Qi, Y., Qin, S., Yue, C., Lu, Q., Lash, G. E., & Li, L. (2026) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-026-04457-5
“Turner syndrome (TS) is a rare chromosomal disorder caused by complete or partial loss of one sex chromosome and is associated with short stature, gonadal dysgenesis, metabolic abnormalities, and increased cardiovascular morbidity [1–4].”
Co-occurrence of Gitelman syndrome and turner syndrome: a Case Report and literature review
Luo, Y., Liao, M., Lu, W., Li, M., Deng, C., Zhou, Y., Yang, D., Yang, F., & Xu, D. (2026) · Frontiers in Genetics · doi:10.3389/fgene.2026.1808148
“Conversely, TS results from complete or partial X-chromosome monosomy, typically presenting with short stature, gonadal dysgenesis, and a predisposition to multisystem comorbidities, including autoimmune thyroiditis and glucose metabolism disorders (Gravholt et al., 2023).”
Colding, A., Traberg, J., Dorf, I. L. H., & Skakkebaek, A. H. (2026) · Andrology · doi:10.1111/andr.70331
Bashir, I. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-27660-6.00010-9
Carşote, M., Nistor, C., & Gheorghe, A.-M. (2026) · Journal of Clinical Medicine · doi:10.3390/jcm15186993
New genomic understanding and challenges in clinical care of Turner syndrome
Gravholt, C. H., Balle, C. M., Johannsen, E. B., Valsted, L. B., Hartogsohn, E. A. R., Bedei, I. A., Just, J., Backeljauw, P. F., & Stochholm, K. (2026) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(26)00192-0
Pilomatrixomas: syndromic associations and a guide to germline genetic testing
Yesudian, R. I., Christopher, J., Armstrong, R., Burrows, N., & Holden, S. T. (2026) · Skin Health and Disease · doi:10.1093/skinhd/vzag133
Dorf, I. L. H., Lou, S., Bech, C. M., Næraa, R. W., Hagen, C. P., & Skakkebaek, A. H. (2026) · Journal of Genetic Counseling · doi:10.1002/jgc4.70298
Disease associations for rare immune genetic variants require statistical or rule-based support
Gray, P. E., Tangye, S. G., & Kirk, E. P. (2026) · Journal of Human Immunity · doi:10.70962/jhi.20260099
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Guo, X., & Dai, X. (2026) · Aging Cell · doi:10.1111/acel.70778
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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