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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
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
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).”
BackgroundClinical pregnancy in Turner syndrome following re-implantation of cryopreserved ovarian cortex
Dunlop, C. E., Jack, S., Telfer, E. E., Zahra, S., & Anderson, R. (2023) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-023-02905-w · Cited by 32
“Turner syndrome (TS) is a rare condition affecting approximately 50 in 100,000 women [1].”
BackgroundMartin‐Giacalone, B. A., Lin, A. E., Rasmussen, S. A., Kirby, R. S., Nestoridi, E., Liberman, R. F., Agopian, A. J., Carey, J. C., Cragan, J. D., Forestieri, N., et al. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63181 · Cited by 28
“Another limitation of the current Turner syndrome literature is the exclusion of non-live birth outcomes (Berglund et al., 2020; Gravholt et al., 2022; Stochholm et al., 2006), which can result in underestimates of some severe birth defects (Heinke et al., 2020).”
BackgroundThe impact of chromosomal sex on cardiometabolic health and disease
Wiese, C. B., Avetisyan, R., & Reue, K. (2023) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2023.07.003 · Cited by 32
Johannsen, E. B., Just, J., Viuff, M. H., Okholm, T. L. H., Pedersen, S. B., Lauritsen, K. M., Trolle, C., Pedersen, M. G. B., Chang, S., Fedder, J., et al. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.928874 · Cited by 24
“Recent studies have demonstrated that changes in the transcriptome and methylome may explain part of the biological mechanisms underlying the phenotypes of sex chromosome aneuploidies (SCAs) (Sharma et al., 2015; Raznahan et al., 2018; Zhang X. et al., 2020; Gravholt et al., 2022).”
BackgroundKhan, N., Farooqui, A., & Ishrat, R. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03337-0 · Cited by 19
“Most TS women depend on assisted reproductive technology (ART) or alternative options such as fostering and adoption to become parents [49].”
BackgroundThe epidemiology of disorders of sex development
Berglund, A., Chang, S., Lind‐Holst, M., Stochholm, K., & Gravholt, C. H. (2025) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2025.102002 · Cited by 21
Primary Amenorrhea and Premature Ovarian Insufficiency
Yatsenko, S. A., Witchel, S. F., & Gordon, C. M. (2024) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2024.01.009 · Cited by 24
A prospective study of lipids in adult women with Turner syndrome
Sandahl, K. J., Just, J., Erlandsen, M., Mortensen, K. H., Andersen, N. H., & Gravholt, C. H. (2023) · Journal of the Endocrine Society · doi:10.1210/jendso/bvad124 · Cited by 14
“Likewise, inclusion of anthropometric measurements and information on physical activity in future studies would provide valuable information, because women with TS are prone to a more sedentary lifestyle [1].”
InfluentialXYGO: proposing a new holistic measure of gender identity and sexual orientation
Cristofaro, A. D., Jannini, T. B., Colonnello, E., Limoncin, E., Mollaioli, D., Ciocca, G., Sansone, A., & Jannini, E. A. (2025) · Nature Reviews Urology · doi:10.1038/s41585-025-01041-7 · Cited by 14
Fedder, J., Fagerberg, C. R., Jørgensen, M. W., Gravholt, C. H., Berglund, A., Knudsen, U. B., & Skakkebaek, A. H. (2023) · Basic and Clinical Andrology · doi:10.1186/s12610-023-00212-z · Cited by 14
“Men with a 45,X cell line were referred for TTE and RUS at local hospitals due to an increased prevalence of congenital heart and kidney malformations in female 45,X patients [18].”
BackgroundTurner 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
Gayete-Lafuente, S., Turan, V., & Oktay, K. (2023) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-023-02932-7 · Cited by 12
“The severity and speed of oocyte depletion among TS girls vary after birth, and they often present with extremely low AMH levels before reaching adolescence [38].”
BackgroundWang, G., Liu, X., Wang, M., Wang, J., Zhang, Z., Allegaert, K., Mei, D., Zhang, Y., Luo, S., Fang, Y., et al. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1324160 · Cited by 9
“The relationship between TS karyotype and clinical phenotype is not well understood due to its wide age distribution, variability in the de fi nition of its clinical phenotype, and differences in the X mosaicism of different tissues (2, 3).”
Background(2024) · Fertility and Sterility · doi:10.1016/j.fertnstert.2024.06.003 · Cited by 12
Thunström, S., Thunström, E. Ö., Naessén, S., Berntorp, K. E., Kitlinski, M. L., Ekman, B., Wahlberg, J., Bergström, I. B., Isaksson, M., Basic, C., et al. (2024) · American Heart Journal · doi:10.1016/j.ahj.2024.11.007 · Cited by 9
Tanoshima, M., Tanoshima, R., Takase, H., Yamamoto, D., Aoki, S., Sakakibara, H., & Miyagi, E. (2025) · Congenital Anomalies · doi:10.1111/cga.70002 · Cited by 9
Seeman, M. V. (2023) · Psychiatric Clinics of North America · doi:10.1016/j.psc.2023.04.005 · Cited by 9
Turner syndrome-omphalocele association: incidence, karyotype, phenotype and fetal outcome
Bedei, I., Gloning, K., Joyeux, L., Meyer‐Wittkopf, M., Willner, D., Krapp, M., Scharf, A., Degenhardt, J., Heling, K., Kozlowski, P., et al. (2023) · Prenatal Diagnosis · doi:10.1002/pd.6302 · Cited by 8
“Recent evidence suggests that the karyotype– phenotype relation cannot be explained by the gene dosage alone and epigenetic mechanisms may influence autosomal gene expression.(34,35) The prenatal phenotype includes fetal hydrops, cystic hygroma, congenital heart defects primarily affecting the left outflow”
BackgroundJuul, A., Gravholt, C. H., Vos, M. D., Koledova, E. B., & Cools, M. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1160884 · Cited by 9
“Management of Turner syndrome requires active and specialized involvement from disciplines such as cardiology, ear/ nose/throat, ophthalmology and orthopedics (4, 24).”
BackgroundMethodAnalysis of genetic variability in Turner syndrome linked to long-term clinical features
Suntharalingham, J. P., Ishida, M., Cameron‐Pimblett, A., McGlacken-Byrne, S. M., Buonocore, F., del Valle, I., Madhan, G. K., Brooks, T., Conway, G. S., & Achermann, J. C. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1227164 · Cited by 9
“The age of presentation in TS varies (2).”
InfluentialCRELD1 variants are associated with bicuspid aortic valve in Turner syndrome
Pinnaro, C. T., Beck, C. B., Major, H. J., & Darbro, B. W. (2023) · Human Genetics · doi:10.1007/s00439-023-02538-0 · Cited by 8
“2007), but no definitive phenotype-karyotype correlations have been made with regards to CHD in TS (Gravholt et al. 2022).”
BackgroundMethodInfluentialBedei, I., Gehrke, T., Gloning, K., Meyer‐Wittkopf, M., Willner, D., Krapp, M., Scharf, A., Degenhardt, J., Heling, K., Kozlowski, P., et al. (2023) · Prenatal Diagnosis · doi:10.1002/pd.6320 · Cited by 7
Image-Based Face Recognition Techniques Used in Disease Detection Approaches: A Survey
Salman, G. A., Kadhim, I. J., & Al-Badri, A. H. (2024) · Journal of Techniques · doi:10.51173/jt.v6i1.1966 · Cited by 9
Kucharska, A., Witkowska–Sędek, E., Erazmus, M., Artemniak-Wojtowicz, D., Krajewska, M., & Pyrżak, B. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms251810169 · Cited by 9
Approach to the Patient With Turner Syndrome
Turner, H. E., Johannsen, E. B., Smyth, A., Orchard, E., & Gravholt, C. H. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaf517 · Cited by 11
Dermatological concerns for women and girls with turner syndrome
Rodriguez‐Buritica, D., Mones, M., Prakash, S. K., Rivera, M., Aldrich, M. B., Rogge, M. N., & Richardson, K. M. (2023) · Frontiers in Medicine · doi:10.3389/fmed.2023.1235187 · Cited by 6
“Turner syndrome (TS) is a common chromosome condition that affects approximately 64 per 100,000 in newborns (1).”
BackgroundMondal, S., Gargari, P., Nagendra, L., Mandal, S., Kumar, R. C., Shah, P., Haldar, M., Chowdhury, S., & Mukhopadhyay, S. (2023) · Clinical Endocrinology · doi:10.1111/cen.14957 · Cited by 7
Krzyścin, M., Sowińska-Przepiera, E., Gruca-Stryjak, K., Soszka-Przepiera, E., Syrenicz, I., Przepiera, A., Bumbulienė, Ž., & Syrenicz, A. (2024) · Biomedicines · doi:10.3390/biomedicines12051034 · Cited by 7
The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development
Suntharalingham, J. P., del Valle, I., Buonocore, F., McGlacken-Byrne, S. M., Brooks, T., Ogunbiyi, O. K., Liptrot, D., Dunton, N. J., Madhan, G. K., Metcalfe, K., et al. (2025) · Communications Biology · doi:10.1038/s42003-025-07699-4 · Cited by 7
“They have also provided extensive supplemental data to be transparent about the results of the study.”
Ahern, D. T., Bansal, P., Faustino, I. V., Chambers, O. M., Banda, E. C., Glatt-Deeley, H. R., Massey, R. E., Kondaveeti, Y., & Pinter, S. F. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.01.013 · Cited by 7
Bedei, I. A., Bruder, J., Lund, I. C. B., Thomsen, S. H., Vogel, I., Maciel‐Guerra, A. T., Álvarez‐Nava, F., Crenshaw, M., Axt-Fliedner, R., Gravholt, C. H., et al. (2025) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32136 · Cited by 7
Song, G., Su, L., Wang, X., Huang, Z., Wang, S., Fu, Q., & Wang, P. (2025) · Neurocomputing · doi:10.1016/j.neucom.2025.131060 · Cited by 6
Ruan, X., Cheng, J., Du, J., Jin, F., Gu, M., Jü, R., Wu, Y., Li, L., Wang, Y., Jiang, L., et al. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1137940 · Cited by 6
Choi, J. E., Park, M. J., Yu, J., & Kim, H. S. (2024) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2346246.123 · Cited by 4
Symmetry of the face – Review of a complex matter
Kessler, P. A. W. H., Timmer, V. C. M. L., & Lie, S. A. N. (2024) · Journal of Oral and Maxillofacial Surgery Medicine and Pathology · doi:10.1016/j.ajoms.2024.11.010 · Cited by 5
Comprehensive Oral Diagnosis and Management for Women with Turner Syndrome
Tallón‐Walton, V., Molins, M. S., Hu, W., Martínez‐Abadías, N., Casado, A., & Manzanares‐Céspedes, M. C. (2024) · Diagnostics · doi:10.3390/diagnostics14070769 · Cited by 7
“…of TS include primary hypogonadism, skeletal anomalies, congenital heart diseases, gastrointestinal and hepatic pathologies, visual and auditory problems, lymphatic and cutaneous ailments, renal malformations and hypertension, as well as mental, neurocognitive and behavioral health issues [8,9].”
BackgroundWitkowska-Krawczak, E., Erazmus, M., Majcher, A., Pyrżak, B., & Kucharská, A. (2023) · Frontiers in Pediatrics · doi:10.3389/fped.2023.1173419 · Cited by 5
“However the progress of genetic and molecular diagnostics allows for the identification of an increasing number of genes within the X chromosome responsible for the occurrence of individual symptoms (4).”
BackgroundElevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes
Just, J., Ridder, L. O. R., Johannsen, E. B., Jensen, J. M. B., Petersen, M. S., Christensen, H. V., Kjærgaard, K., Redder, J. D., Chang, S., Stochholm, K., et al. (2025) · npj Genomic Medicine · doi:10.1038/s41525-025-00467-7 · Cited by 5
“…in TS, which points to a fundamental imbalance in the immune system possibly encompassing low grade in fl ammation 24,25 , increased risk of cardiovascular complications 10 and abnormal body composition with increased fat mass and low muscle mass 26 with the differential methylome and transcriptome.”
Diddhenipothage, S. A. D. M., Beck, K. J., Amiyangoda, C. G. K., Bryce, J., Cima, L., Groote, K. D., Deyanova, Y., Globa, E., Herrmann, G., Juul, A., et al. (2025) · Endocrine Connections · doi:10.1530/ec-24-0477 · Cited by 5
Ding, F., Xu, J., Xiong, J., Li, Q., Cheng, Z., & Deng, L. (2025) · Frontiers in Endocrinology · doi:10.3389/fendo.2025.1552300 · Cited by 6
Evolution of Health Care in Turner Syndrome
Shankar, R. K., Gravholt, C. H., & Backeljauw, P. F. (2024) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32124 · Cited by 4
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review
Dorf, I. L. H., Lou, S., & Skakkebaek, A. H. (2025) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32140 · Cited by 4
Villasmil, M. G. P., Ryckman, K. K., Norris, A. W., & Pinnaro, C. T. (2023) · Hormone Research in Paediatrics · doi:10.1159/000534371 · Cited by 4
“Turner syndrome (TS) is a genetic disorder resulting from complete or partial loss of the second sex chromosome [1].”
Ovarian Insufficiency: Clinical Spectrum and Management Challenges
Stuenkel, C. A. (2024) · Journal of Women s Health · doi:10.1089/jwh.2023.0942 · Cited by 4
“…of premature menopause, or is being evaluated in a research setting utilizing specified genetic test panels, most experts recommend obtaining a karyotype to identify Turner Syndrome (or mosaics), 56,57 or translocations of the long arm of the X chromosome, and testing for Fragile-X premutation.”
Gravholt, C. H. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-815234-8.00002-1 · Cited by 4
McGlacken-Byrne, S. M., del Valle, I., Xenakis, T., Suntharalingham, J. P., Nel, L., Liptrot, D., Crespo, B., Ogunbiyi, O. K., Niola, P., Brooks, T., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.12.22.572342 · Cited by 4
“…phenotype include a reduction in dosage of genes escaping X chromosome inactivation (XCI escape genes); epigenetic abnormalities; downstream autosomal genetic disruption; and telomere length abnormalities (Trolle et al., 2016; Jackson-Cook, 2019; Rizzolio et al., 2007; Gravholt et al., 2022).”
BackgroundOssama, H. M., Kholeif, S. F., & Elhady, G. M. (2023) · Journal of Human Reproductive Sciences · doi:10.4103/jhrs.jhrs_128_23 · Cited by 3
“[27,28] Marker chromosomes can be detected in about 20% of mosaic TS which could be derived from the X or Y chromosome, and in 6% of cases the marker is derived from a structurally abnormal Y chromosome.”
BackgroundLee, Y. J., Cheon, C. K., Suh, J., Ahn, M. B., Ahn, M. B., Chang, S. H., Lee, J. E., Choi, J., Lim, H. H., Kim, J. H., et al. (2024) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2448272.136 · Cited by 3
van der Zande, J. A., Grewal, J., Franx, A., Hlebowicz, J., Demulier, L., Konings, T. C., Kinsara, A. J., Mwita, J. C., Bal-Theoleyre, L., Mahmeed, W. A., et al. (2025) · European Journal of Preventive Cardiology · doi:10.1093/eurjpc/zwaf574 · Cited by 3
The importance of genetic counselling for turner syndrome transition
Villarreal, E. M. L., Prado, S. C., Schack, A. K., Sánchez, S. Á., Casado, M. A., Krych, Ł., & Garrido-Navas, M. C. (2024) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-024-02547-y · Cited by 3
“…that the foetus may be affected by TS leading to the application of invasive diagnostic techniques; another in the age range between 5 and 20 years due to a height deficit or menstruation problems and a third peak between 30 and 40 years due to the studies carried out for infertility issues [21].”
Thunström, S., Wide, U., Landin‐Wilhelmsen, K., Berntorp, K. E., Bryman, I., Krantz, E., Wahlberg, J., Ekman, B., Isakson, M., Karlsson, A., et al. (2024) · Translational Psychiatry · doi:10.1038/s41398-024-02937-5 · Cited by 3
Krzyścin, M., Gruca-Stryjak, K., Soszka-Przepiera, E., Syrenicz, I., Przepiera, A., Cymbaluk‐Płoska, A., Bumbulienė, Ž., & Sowińska-Przepiera, E. (2023) · Biomedicines · doi:10.3390/biomedicines11123125 · Cited by 3
“A minority of patients retain Y chromosome elements [5].”
BackgroundUncommon presentation: monozygotic twins with Turner syndrome
Rehman, B., Shariff, Y., Arif, M., & Memon, F. (2024) · BMJ Case Reports · doi:10.1136/bcr-2024-262946 · Cited by 3
Cicione, M. E., Wong, A. W., Aragon, E., Hague, C. D., Cirino, A. L., Scimone, E. R., Gochyyev, P., & Lin, A. E. (2025) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32128 · Cited by 3
Global burden and health inequalities of sex chromosomal DSDs (1990–2021): a GBD 2021 analysis
Su, X., Chen, F., Shi, Z., Tao, Y., Han, X., & Li, X. (2025) · International Urology and Nephrology · doi:10.1007/s11255-025-04677-x · Cited by 2
“KS patients frequently present with cardiac and genital malformations, while TS patients exhibit short stature, congenital heart disease, and horseshoe kidney [6, 13, 15, 36].”
InfluentialTurner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved
Lam, J., Stoppa‐Vaucher, S., Αντωνίου, Μ., Bouthors, T., Arana, I. L. R., Sekarski, N., Rutz, T., Fries, S., Binz, P., Niel, F., et al. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1190670 · Cited by 3
“The distribution of karyotypes in our cohort showed slightly higher proportion of X structural rearrangement than previously published (15).”
BackgroundHypothyroidism and growth hormone deficiency as a complication of Turner Syndrome: Case Report
Aucay, H. A. C., Naula, M. P. N., Lata, G. E. P., Córdova, M., Guaman, M. R. C., Salazar, A. D. R. G., & Nugra, T. M. G. (2023) · Salud Ciencia y Tecnología · doi:10.56294/saludcyt2023438 · Cited by 2
Caracterización de una cohorte de pacientes pediátricas con Síndrome de Turner
Guzmán-Arias, E. C., Grajales-Restrepo, D. A., Zuluaga, N. A., Lopera-Cañaveral, M. V., & Niño-Serna, L. F. (2023) · Andes pediatrica · doi:10.32641/andespediatr.v94i5.4617 · Cited by 2
Zhou, Z., Qiang, J., Hao, N., Guo, X., Yao, F., Yang, H., Jiang, Y., Zhu, H., Chen, S., & Pan, H. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae648 · Cited by 2
Berglund, A., Gravholt, C. H., & Stochholm, K. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae912 · Cited by 2
Evaluating primary amenorrhea in the primary care setting
Hopkins, L. W., Breiten, K. H., Spero, S., & Moore, G. (2025) · The Nurse Practitioner · doi:10.1097/01.npr.0000000000000311 · Cited by 2
Álvarez‐Nava, F., Crenshaw, M., Bedei, I. A., Soto, M., Maciel‐Guerra, A. T., & Skakkebaek, A. H. (2025) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32146 · Cited by 2
Turner Syndrome: An Update Review
Alam, J., & Shalini, D. (2024) · International Journal of Innovative Science and Research Technology (IJISRT) · doi:10.38124/ijisrt/ijisrt24may508 · Cited by 2
Lifelong cardiovascular care in Turner syndrome: two cases with review of literature
Moriguchi, S., Mukoyama, Y., Takizawa, F., Ogawa, A., Ogawa, T., Itô, J., Yanagawa, Y., Komiyama, C., Niitsu, R., & Isojima, T. (2024) · Endocrine Journal · doi:10.1507/endocrj.ej24-0038 · Cited by 1
Transition from pediatrics to adult health care in girls with turner syndrome
Sabbadin, C., Marin, L., Manso, J., Mozzato, C., Camozzi, V., Andrisani, A., Sacchetti, C., Mian, C., Scaroni, C. M., Guazzarotti, L., et al. (2024) · Expert Review of Endocrinology & Metabolism · doi:10.1080/17446651.2024.2347265 · Cited by 2
“The SHOX protein plays a role in several pathways of the growth plate: decreased SHOX expression explains part of the reduced linear growth in patients with TS [3,5].”
BackgroundA Diagnosis of Turner Syndrome in the Eighth Decade of Life
Kaur, R., & O’Sullivan, S. (2024) · JCEM Case Reports · doi:10.1210/jcemcr/luae104 · Cited by 1
“The delay in diagnosis of TS may result from a lack of syndrome recognition by clinicians, delayed presentation, and/or inadequate genetic analysis (1).”
BackgroundPharmacogenomic studies of fertility outcomes in pediatric cancer survivors – A systematic review
Stenta, T., Assis, M., Ayers, K. L., Tucker, E. J., Halman, A., Gook, D. A., Sinclair, A. H., Elliott, D. A., Jayasinghe, Y., & Conyers, R. K. (2024) · Clinical and Translational Science · doi:10.1111/cts.13827 · Cited by 1
Medical Management of Children with Disorders of Sex Development: An Overview
Yadav, J., Nanda, P. M., & Jain, V. (2024) · Springer eBooks · doi:10.1007/978-981-97-1639-5_53 · Cited by 1
Beroukhim, G., Kastury, R. D., Davidson, K. A., Bergmann, J. M., & Vash‐Margita, A. (2025) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2025.02.002 · Cited by 2
Madison, A. M., Applegate, C. D., Stinnett, V., Miranda, D. M., Cross, C., Vaught, K. C. C., Zou, Y. S., & Murry, J. B. (2025) · Scientific Reports · doi:10.1038/s41598-025-89843-y · Cited by 1
Krzyścin, M., Sowińska-Przepiera, E., Bumbulienė, Ž., & Syrenicz, A. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26083679 · Cited by 1
Germ cell and other tumors in individuals with differences in sex development
Witchel, S. F., & Reyes‐Múgica, M. (2025) · CA A Cancer Journal for Clinicians · doi:10.3322/caac.70015 · Cited by 1
“42 The premature loss of oocytes contributes to atypical ovarian development characterized by fibrous stroma, deficient estradiol synthesis, hypergonadotropic hypogonadism, and premature ovarian insufficiency.”
TIPE2: a novel regulatory factor for cardiovascular-related diseases
Li, R., & Guo, Z. (2025) · Journal of Molecular Medicine · doi:10.1007/s00109-025-02564-7 · Cited by 1
“Diabetes is the most common endocrine disease that often leads to cardiovascular disorders [45].”
Johannsen, E. B., Just, J., Chang, S., Skakkebaek, A. H., & Gravholt, C. H. (2025) · Clinical Epigenetics · doi:10.1186/s13148-025-01963-4 · Cited by 3
“Both syndromes are associated with increased incidence of aging-related comorbidities such as osteoporosis, sarcopenia, adiposity, diabetes, metabolic syndrome, as well as cardiovascular disease [10–16].”
Shen, Y., Song, C., Du, Y., Wang, L., Li, X., Shi, Y., Ye, D., Dong, S., & Liu, H. (2025) · Medicine · doi:10.1097/md.0000000000044519 · Cited by 1
“[45,50] TS is a multisystem disorder, with an increasing trend in overall mortality, [44] and women with TS are more likely to experience cardiovascular, diabetic, and osteoporotic complications.”
Shang, D., Wang, Y., Lan, T., Wang, X., Cheng, H., & Zhou, R. (2025) · Cell & Bioscience · doi:10.1186/s13578-025-01464-0 · Cited by 1
“In girls and women with Turner syndrome, the gonads usually become streaks of connective tissue with no germ cells [4, 11].”
InfluentialIncidence and multisystem preadolescent complications of Turner syndrome: a nationwide study
Cha, J. H., Kang, E., Na, J. Y., Ryu, S., Choi, Y., & Kim, J. H. (2025) · Pediatrics & Neonatology · doi:10.1016/j.pedneo.2025.06.009 · Cited by 1
Lewin, L. L., Stadlmeier, M., Singh, N., Bauland, F., Köppl, D., Gaudl, A., Geistanger, A., Ceglarek, U., Rauh, M., & Taibon, J. (2026) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm-2025-1155 · Cited by 1
“Other conditions (e.g., Klinefelter syndrome, Turner syndrome) can also disrupt urogenital development and have far more wide-ranging e ff ects [7, 15, 16].”
Datar, Y., Madhani, A., & Yin, K. (2026) · Cardiology in the Young · doi:10.1017/s1047951126111949 · Cited by 1
González-Rodríguez, M. T. A., Brukman‐Jiménez, S. A., Cuero‐Quezada, I., Corona‐Rivera, J. R., Corona‐Rivera, A., Serafín‐Saucedo, G., Aguirre-Salas, L. M., & Bobadilla‐Morales, L. (2023) · Genes · doi:10.3390/genes14020253 · Cited by 1
“Chromosomal mosaicism in TS is considered a potential modifier of the phenotype, differing unpredictably between the same individual [2,33,34].”
BackgroundInfluentialSu, W., Sun, L., Li, Z., Liu, X., Zhang, L., Zhao, X., Fan, S.-M., Li, B., Xie, Y., Xiao, W., et al. (2024) · BMC Pediatrics · doi:10.1186/s12887-024-04783-2 · Cited by 1
“Turner syndrome (TS), characterized by short stature and gonadal dysplasia, is the most prevalent sex chromosome abnormality in women, with an incidence of 1/2000– 3000 live female births [1–3].”
BackgroundTurner syndrome: fertility, familial clustering, and cancer risk
Allen‐Brady, K., Verrilli, L. E., Austin, B., Letourneau, J. M., Johnstone, E. B., & Welt, C. K. (2024) · Human Reproduction · doi:10.1093/humrep/deae266 · Cited by 1
Exploring the experiences of adult patients with turner syndrome at a multidisciplinary clinic
Shin, S., Liang, L., Korenvain, C., McCarthy, L. M., & Lega, I. C. (2025) · Maturitas · doi:10.1016/j.maturitas.2025.108214 · Cited by 1
Turner syndrome: the promise of fertility via stem cell technology
Szeliga, A., Malcher, A., Niwczyk, O., Olszewska, M., Kurpisz, M. K., Męczekalski, B., & Adashi, E. Y. (2025) · HORMONES · doi:10.1007/s42000-025-00647-1 · Cited by 1
“Finally, ovarian function is also affected, leading to primary ovarian insufficiency and causing hypergonadotropic hypogonadism [5, 16].”
Special Populations Including Transgender and Questioning Youth
Greydanus, D. E., & Patel, D. R. (2025) · Springer eBooks · doi:10.1007/978-3-031-85784-3_9 · Cited by 1
Stochholm, K., Rasmussen, A. B., & Skakkebaek, A. H. (2025) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32144 · Cited by 1
Peeyananjarassri, K., Klangsin, S., Bhumsiriwilai, P., Wattanakumtornkul, S., & Chotipanvithayakul, R. (2025) · Journal of obstetrics and gynaecology research · doi:10.1111/jog.70009 · Cited by 1
“13,14 6 Conversely, low”
Case 27-2023: A 53-Year-Old Woman with Celiac Disease and Upper Gastrointestinal Bleeding
Hashemi, N., Lopes, E. W., Dhami, R. S., Lin, A. E., & Moodley, J. (2023) · New England Journal of Medicine · doi:10.1056/nejmcpc2300903 · Cited by 1
Спорные вопросы хирургического лечения болезни Грейвса
Цуркан, А. Ю., Vanushko, V. E., & Beltsevich, D. G. (2009) · CyberLeninK (CyberLeninka)
Noeth, M., Kemp, T., & Botha, T. (2023) · Journal of Endocrinology Metabolism and Diabetes of South Africa · doi:10.1080/16089677.2023.2198349
“Theories include second-hit insult and more genetic modifications that affect the phenotype.(26)”
BackgroundReduced effects of social feedback on learning in Turner syndrome
Avdic, H. B., Strannegård, C., Engberg, H., Willfors, C., Nordgren, I., Frisén, L., Hirschberg, A. L., Guath, M., Nordgren, A., & Kleberg, J. L. (2023) · Scientific Reports · doi:10.1038/s41598-023-42628-7
Identificação de variantes genéticas associadas com a perda gestacional
Vidal, S. V. P., Santos, T. T., Diniz, P. A., Silva, L. C., dos Santos, A. M. G., Souza, A. D. J., Ventura, S. D. S., Avelar, L. G. A., & Martins, A. A. S. (2023) · Brazilian Journal of Implantology and Health Sciences · doi:10.36557/2674-8169.2023v5n5p309-328
Wang, Y., Zhuang, Z., Xun, Y., Zhao, Y., Shi, M., Mo, X., & Qi, J. (2023) · Research Square · doi:10.21203/rs.3.rs-3463536/v1
Progressive Oestrogen Deficiency in a Young Woman with 45X/46XX Mosaicism: A Case Report
(2023) · Medicine & health · doi:10.17576/mh.2023.1802.24
Immunological Underpinnings of Autoimmune Primary Ovarian Insufficiency
Brodeur, T. Y., & Esfandiari, N. (2024) · Current Obstetrics and Gynecology Reports · doi:10.1007/s13669-024-00376-z · Cited by 1
“TS is associated with ovarian dysgenesis and POI that may lead to primary or secondary amenorrhea due to accelerated loss of oocytes [16, 17].”
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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