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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Flagged first, then by citations

Research works printed but not linked: 3

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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
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“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
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“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
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“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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