Cited by 149Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersImmunodeficiency and Autoimmune Disorders

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The Changing Face of Turner Syndrome

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Gravholt, Claus H, Viuff, Mette, Just, Jesper, Sandahl, Kristian, Brun, Sara, van der Velden, Janielle, Andersen, Niels H, Skakkebaek, Anne·2023·Endocrine Reviews

DOI 10.1210/endrev/bnac016

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Abstract

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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Reduced free IGF-I and increased IGFBP-3 proteolysis in Turner syndrome: modulation by female sex steroids
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Prevalence of autoimmune thyroid diseases among the Turner syndrome patients: meta-analysis of cross sectional studies.
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Turner syndrome systematic review: spontaneous thelarche and menarche stratified by karyotype
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Radiological Signs of Leri-Weill Dyschondrosteosis in Turner Syndrome
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Self-citation
Coronary artery anomalies in Turner syndrome
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Increased aortic stiffness in prepubertal girls with Turner syndrome
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Effects of estrogen therapies on outcomes in Turner syndrome: assessment of induction of puberty and adult estrogen use
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Long QT Interval in Turner Syndrome – A High Prevalence of LQTS Gene Mutations
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XO monosomy is associated with reduced birthweight and lowered weight gain in the mouse
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Muscle Fiber Composition and Capillary Density in Turner Syndrome
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Minireview: Progesterone Regulation of Proliferation in the Normal Human Breast and in Breast Cancer: A Tale of Two Scenarios?
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Epigenetic and transcriptomic consequences of excess X‐chromosome material in 47, XXX syndrome—A comparison with Turner syndrome and 46, XX females
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Estrogen and hearing from a clinical point of view; characteristics of auditory function in women with Turner syndrome
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Progress in Fertility Preservation Strategies in Turner Syndrome
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Cardiovascular outcomes of pregnancy in Turner syndrome
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Audiological features of Turner's syndrome in adults
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Prenatally Diagnosed Turner Syndrome and Cystic Hygroma: Incidence and Reasons for Referrals
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Turner syndrome: New insights from prenatal genomics and transcriptomics
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Cardiometabolic health in Turner syndrome
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Sex hormones and human brain function
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Latent representation learning in biology and translational medicine
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Evaluation of hearing organ in patients with Turner syndrome
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The genetic basis of Turner syndrome aortopathy
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Circulating Biochemical Marker Levels of Collagen Metabolism Are Abnormal in Patients with Abdominal Aortic Aneurysm
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Partial Anomalous Pulmonary Venous Drainage in Young Pediatric Patients: The Role of Magnetic Resonance Imaging
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Serum lipids, lipoprotein Ip(a), and plasminogen activator inhibitor-1 in patients with Turner's syndrome before and during growth hormone and estrogen therapy
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Phenotype in girls and women with Turner syndrome: association between dysmorphic features, karyotype and cardio-aortic malformations
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Impaired aortic distensibility and elevated central blood pressure in Turner syndrome: a cardiovascular magnetic resonance study
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Women with Turner syndrome are both estrogen and androgen deficient—the impact of hormone replacement therapy
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Live birth after allografting of ovarian cortex between monozygotic twins with Turner syndrome (45,XO/46,XX mosaicism) and discordant ovarian function
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Are young women with Turner syndrome at greater risk of coronary artery disease?
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Frequency and Detection of Stanford Type A Aortic Dissection in Hyperacute Stroke Management
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Social skills and relationships in Turner syndrome
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High false‐positive non‐invasive prenatal screening results for sex chromosome abnormalities: Are maternal factors the culprit?
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Coarctation resection in children with Turner’s syndrome
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Anti-Müllerian hormone levels in patients with Turner syndrome: relation to karyotype, spontaneous puberty, and replacement therapy
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Medical Care of Girls with Turner Syndrome: Where are we Lacking?
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Conotruncal defects associated with anomalous pulmonary venous connections
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Multimodality cardiac imaging in Turner syndrome
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Assessment of the key regulatory genes and their interologs for Turner syndrome employing network approach
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Depression in Turner Syndrome: A Systematic Review
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Added value of buccal cell FISH analysis in the diagnosis and management of Turner syndrome
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Increased occurrence of liver and gastrointestinal diseases and anaemia in women with Turner syndrome—a nationwide cohort study
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Proximal aortic stiffening in Turner patients may be present before dilation can be detected: a segmental functional MRI study
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Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X
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Chromosomal abnormalities affect the surgical outcome in infants with hypoplastic left heart syndrome: a large cohort analysis
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How can we make pregnancy safe for women with Turner syndrome?
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Health-Related Quality of Life in Turner Syndrome and the Influence of Growth Hormone Therapy: A 20-Year Follow-Up
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Effects of Treatment with Oxandrolone for 4 Years on the Frequency of Severe Arithmetic Learning Disability in Girls with Turner Syndrome
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Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome -a nationwide cohort study
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Immunological parameters in girls with Turner syndrome
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Fertility counseling and preservation discussions for females with Turner syndrome in pediatric centers: practice patterns and predictors
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Karyotype - Phenotype Associations in Patients with Turner Syndrome.
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TurnerFertility trial: PROTOCOL for an observational cohort study to describe the efficacy of ovarian tissue cryopreservation for fertility preservation in females with Turner syndrome
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Atrial and ventricular arryhthmogenic potential in Turner syndrome
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Significance, prognostic value and management of heart rate in hypertension
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Five-year randomized study demonstrates blood pressure increases in young women with Turner syndrome regardless of estradiol dose
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Self-citation
Brain Development in School-Age and Adolescent Girls: Effects of Turner Syndrome, Estrogen Therapy, and Genomic Imprinting
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Effect of sex hormone treatment on circulating adiponectin and subforms in Turner and Klinefelter syndrome
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The Turner syndrome research registry: Creating equipoise between investigators and participants
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Neoplasia in Turner syndrome. The importance of clinical and screening practices during follow-up
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Gradually increasing ethinyl estradiol for Turner syndrome may produce good final height but not ideal BMD
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Continuous measurement of aortic dimensions in Turner syndrome: a cardiovascular magnetic resonance study
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Systematic review of quality of life in Turner syndrome
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Current and Emerging Imaging Techniques in Patients with Genetic Aortic Syndromes
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Maternal, pregnancy, and neonatal outcomes for women with Turner syndrome
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Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management
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Follow‐up of Ullrich's original patient with “Ullrich‐Turner” syndrom
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Social and medical determinants of quality of life and life satisfaction in women with Turner syndrome
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The usefulness of magnetic resonance imaging of the cardiovascular system in the diagnostic work-up of patients with Turner syndrome
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Sex hormone replacement therapy for individuals with Turner syndrome
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An isolated Xp deletion is linked to autoimmune diseases in Turner syndrome
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The association of the metabolic syndrome with target organ damage: focus on the heart, brain, and central arteries
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The indication for fertility preservation in women with Turner syndrome should not only be based on the ovarian reserve but also on the genotype and expected future health status
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International Society for the Study of Women's Sexual Health Clinical Practice Guideline for the Use of Systemic Testosterone for Hypoactive Sexual Desire Disorder in Women
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Starting age of oestrogen-progestin therapy is negatively associated with bone mineral density in young adults with Turner syndrome independent of age and body mass index
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Audiological Abnormalities in Patients With Turner Syndrome
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Turnerʼs syndrome and carbohydrate metabolism. I. Impaired insulin secretion after tolbutamide and glucagon stimulation tests
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A hypothesis: Could telomere length and/or epigenetic alterations contribute to infertility in females with Turner syndrome?
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Effect of Dosage of 17ß-Estradiol on Uterine Growth in Turner Syndrome—A Randomized Controlled Clinical Pilot Trial
Cleemann, L., Holm, K., Fallentin, E., Møller, N., Kristensen, B., Skouby, S. O., Leth-Esbensen, P., Jeppesen, E. M., Jensen, A. K., & Gravholt, C. H. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgz061 · Cited by 18
Absence of autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease in girls and women with Turner syndrome
Stenberg, A. E., Sylvén, L., Hedstrand, H., Kämpe, O., & Hultcrantz, M. (2007) · Journal of Negative Results in BioMedicine · doi:10.1186/1477-5751-6-10 · Cited by 17
Two-dimensional speckle tracking of the abdominal aorta: a novel approach to evaluate arterial stiffness in patients with Turner syndrome
Oberhoffer, F. S., Abdul‐Khaliq, H., Jung, A., Rohrer, T. R., & Rahman, M. A. E. (2019) · Cardiovascular Diagnosis and Therapy · doi:10.21037/cdt.2019.03.01 · Cited by 17
Natural history of hypertension in Turner syndrome during a 12-year pragmatic interventional study
Sandahl, K., Wen, J., Erlandsen, M., Andersen, N. H., & Gravholt, C. H. (2020) · Hypertension · doi:10.1161/hypertensionaha.120.15292 · Cited by 17
New approaches to social skills training: blended group interventions for girls with social communication difficulties
Wolstencroft, J., Kerry, E., Denyer, H., Watkins, A., Mandy, W., & Skuse, D. (2021) · Autism Research · doi:10.1002/aur.2495 · Cited by 17
Oophorectomy versus salpingo-oophorectomy in Turner syndrome patients with Y-chromosome material: clinical experience and current practice patterns assessment
Shankar, R. K., Inge, T. H., Gutmark‐Little, I., & Backeljauw, P. F. (2014) · Journal of Pediatric Surgery · doi:10.1016/j.jpedsurg.2014.06.012 · Cited by 16
21-hydroxylase autoantibodies are more prevalent in Turner syndrome but without an association to the autoimmune polyendocrine syndrome type I
Berglund, A., Cleemann, L. H., Oftedal, B. E., Holm, K., Husebye, E. S., & Gravholt, C. H. (2018) · Clinical & Experimental Immunology · doi:10.1111/cei.13231 · Cited by 16
Vestibular function in families with inherited autosomal dominant hearing loss
Street, V. A., Kallman, J. C., Strombom, P. D., Bramhall, N. F., & Phillips, J. O. (2008) · Journal of Vestibular Research · doi:10.3233/ves-2008-18105 · Cited by 15
Gastrointestinal vascular malformations in patients with Turner's syndrome: a systematic review of case reports
Kucharska, A., Józefczuk, P., Ksiązyk, M., Labochka, D., & Banaszkiewicz, A. (2018) · Hormone Research in Paediatrics · doi:10.1159/000490425 · Cited by 15
Insights from circulating microRNAs in cardiovascular entities in turner syndrome patients
Abu‐Halima, M., Oberhoffer, F. S., Rahman, M. A. E., Jung, A., Zemlin, M., Rohrer, T. R., Kahraman, M., Keller, A., Meese, E. U., & Abdul‐Khaliq, H. (2020) · PLoS ONE · doi:10.1371/journal.pone.0231402 · Cited by 15
The influence of growth hormone therapy on the cardiovascular system in Turner syndrome
Dyrka, K., Rozkiewicz, N., Obara-Moszyńska, M., & Niedziela, M. (2020) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2020-0266 · Cited by 15
Carotid intima-media thickness in children treated with growth hormone
Knop, C., Wolters, B., Lass, N., Wunsch, R., & Reinehr, T. (2014) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2014-0180 · Cited by 14
Deficient knowledge in adult Turner syndrome care as an incentive to found Turner centers in Germany
Kahlert, E., Blaschke, M., Brockmann, K., Freiberg, C., Janssen, O. E., Stahnke, N., Strik, D., Merkel, M., Mann, A., Liesenkötter, K.-P., et al. (2019) · Endocrine Connections · doi:10.1530/ec-19-0418 · 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
Blood pressure, sympathovagal tone, exercise capacity and metabolic status are linked in Turner syndrome
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
Oxandrolone for growth hormone-treated girls aged up to 18 years with Turner syndrome
Mohamed, S., Alkofide, H., Adi, Y., Amer, Y. S., & AlFaleh, K. M. (2019) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd010736.pub2 · 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
Annual hearing screening in girls with Turner syndrome: results from the first three years in Glasgow
Kubba, H., McAllister, K., Hunter, K., & Mason, A. (2019) · International Journal of Pediatric Otorhinolaryngology · doi:10.1016/j.ijporl.2019.02.025 · Cited by 12
Increased Prevalence of Beta-Cell Dysfunction despite Normal HbA1c in Youth and Young Adults with Turner Syndrome
Sheanon, 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
Hearing loss in adult women with Turner’s syndrome and other congenital hypogonadisms
Ros, C., Tercero, A., Alobid, I., Balasch, J., Santamaria, J., Mullol, J., & Castelo‐Branco, C. (2013) · Gynecological Endocrinology · doi:10.3109/09513590.2013.856002 · Cited by 11
Ischemic stroke in a young adult with Turner syndrome
Irioka, T., & Mizusawa, H. (2010) · Neurological Sciences · doi:10.1007/s10072-010-0455-6 · Cited by 11
Prolonged QT interval and cardiac arrest after a single dose of amiodarone in a woman with Turner's syndrome
Nielsen, D. G., Nielsen, J. C., Trolle, C., Gravholt, C. H., & Andersen, N. H. (2017) · Clinical Case Reports · doi:10.1002/ccr3.802 · Cited by 11
The impact of somatic mosaicism on bicuspid aortic valve and aortic dissection in Turner Syndrome
Prakash, S. K. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31691 · Cited by 11
The mouse as a model of fundamental concepts related to Turner syndrome
Arnold, A. P. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31681 · Cited by 11
Prevalence, risk factors and management strategies for otological problems in girls with Turner syndrome
Lim, D., Hassani, S., Lupton, K., Gault, E. J., Wynne, D., Clement, W., Kubba, H., Mason, A., & Donaldson, M. (2020) · Acta Paediatrica · doi:10.1111/apa.15128 · Cited by 11
Dysphagia lusoria: A vascular etiology?
Coles, M. J., Madray, V. M., Mareddy, C., Kapoor, D., & Sharma, A. (2020) · JGH Open · doi:10.1002/jgh3.12366 · Cited by 11
Influence of Material Model and Aortic Root Motion in Finite Element Analysis of Two Exemplary Cases of Proximal Aortic Dissection
Subramaniam, D. R., Gutmark, E. J., Andersen, N. H., Nielsen, D. G., Mortensen, K. H., Gravholt, C. H., Backeljauw, P. F., & Gutmark‐Little, I. (2020) · Journal of Biomechanical Engineering · doi:10.1115/1.4048084 · Cited by 11
Effects of age at estrogen replacement therapy initiation on trabecular bone score in Japanese adults with Turner syndrome
Saito, S., Koga, E., Okada, Y., Tsuburai, T., Yoshikata, H., Miyagi, E., & Sakakibara, H. (2021) · Osteoporosis International · doi:10.1007/s00198-020-05652-1 · Cited by 11
Karyotype is associated with timing of ovarian failure in women with Turner syndrome
Fitz, V. W., Law, J. R., & Peavey, M. (2021) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2020-0304 · Cited by 11
?ere?evskij-Turner's syndrome or Turner's syndrome
L�nberg, N. C., & Nielsen, J. (1977) · Human Genetics · doi:10.1007/bf00402166 · Cited by 10
Molecular diagnosis of deletions in the human multigene complex of growth and placental lactogen hormones
González-Rodríguez, E., Jaramillo‐Rangel, G., & Barrera-Saldaña, H. A. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19971112)72:4 · Cited by 10
Defects in the first wave of folliculogenesis in mouse XO ovaries
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Prepubertal ultra-low-dose estrogen therapy is associated with healthier lipid profile than conventional estrogen replacement for pubertal induction in adolescent girls with Turner syndrome: preliminary results
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Flagged first, then by citations

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

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.”
BackgroundMethod
Society 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.”
Influential
The 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

See all 149

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: Gravholt, Claus H
Viuff, Mette
Just, Jesper
Sandahl, Kristian
Brun, Sara
van der Velden, Janielle
Andersen, Niels H
Skakkebaek, Anne
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
DOI: 10.1210/endrev/bnac016
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
Licence: academic.oup.com/pages/standard-publication-reuse-rights (vor)
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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The Changing Face of Turner Syndrome

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