The Turner syndrome life course project: karyotype-phenotype analyses across the lifespan
Open accessAbstract
INTRODUCTION: Turner syndrome (TS) is associated with a variety of morbidities affecting nearly every body system, some of which increase in prevalence in adult life. The severity of clinical features in TS is roughly in parallel with the magnitude of the deficit of X-chromosome material. The aim of this study was to extend the established karyotype-phenotype relationships using data from a large adult cohort. MATERIALS AND METHODS: Karyotypes were available in 656 women with TS. 611 of whom could be classified into five major groups within the cohort: 45,X; 45,X mosaicism (45,X/46,XX); isochromosome X (isochromosome Xq); mosaicism 45,X/46,XY and ring X. Continuous variables such as blood pressure and biochemical markers from clinic data were binarised allocating those in the upper quartile to represent at-risk individuals. With the exception of bone mineral density T-score for which the lower quartile was allocated as at risk. For comorbidities, initiation of formal treatment was recorded. RESULTS: 45,X/46,XX had considerably lower frequency of comorbidities compared to 45,X. The isochromosome group experienced similar outcomes to 45,X. Novel associations were found between the XY mosaic karyotype group and a decreased prevalence of thyroid disease and severe hearing loss. A previously unreported increased incidence of metabolic syndrome was noted within the ring chromosome subgroup. CONCLUSIONS: Karyotype may play an important factor against stratifying risk of comorbidity in TS and should be taken into consideration when managing adults with TS. Further investigations of the isochromosome (Xq) and ring groups are necessary to further clarify their associations with comorbidities.
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Individuals with TS and 45,X/46,XY seem to have the lowest incidence of autoimmune thyroid disease and severe hearing loss and a low incidence of aortic coarctation.
“Individuals with TS and with 45,X/46,XY seem to have the lowest incidence of autoimmune thyroid disease and severe hearing loss and a low incidence of aortic coarctation.26”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [26]
Individuals with TS and a 45,X karyotype have a significantly higher frequency of comorbidities and a higher mortality compared to individuals with other TS karyotypes.
“Overall, individuals with TS and a 45,X karyotype have a significantly higher frequency of comorbidities and a higher mortality compared to individuals with other TS karyotypes.25-29”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [26]
Individuals with TS and isochromosome Xq present with an intermediate phenotype regarding left-sided congenital heart defects and spontaneous menarche, and seem to have a lower incidence of aortic coarctation.
“Overall, individuals with TS and isochromosome Xq present with an intermediate phenotype regarding left-sided congenital heart defects and spontaneous menarche, and also seem to have a lower incidence of aortic coarctation.26,30”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [26]
TS individuals with a ring X chromosome without functional loss of XIST seem to have an increased risk of metabolic syndrome compared with TS individuals with 45,X but appear to have the lowest risk of BAV.
“TS individuals with a ring X chromosome without functional loss of XIST seem to have an increased risk of metabolic syndrome compared with TS individuals with 45,X but in contrast, they appear to have the lowest risk of BAV.26”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [26]
Individuals with TS and a 45,X/46,XX mosaic karyotype present with a milder phenotype with left-sided congenital heart defects, obesity and hypertension being less frequent, age at menarche being near-normal and are more likely to experience spontaneous menarche and pregnancies compared to individuals with TS and 45,X.
“In general, individuals with TS and a 45,X/46,XX mosaic karyotype present with a milder phenotype with left-sided congenital heart defects, obesity and hypertension being less frequent, age at menarche being near-normal and are more likely to experience spontaneous menarche and pregnancies compared to individuals with TS and 45,X.26,30”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [26]
A higher frequency of primary amenorrhea is more common in individuals with 45,X than in those with 45,X/46,XX.
“A higher frequency of primary amenorrhea is more common in individuals with 45,X than compared to those with 45,X/46,XX.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [26]
The prevalence of coeliac disease increases with age and is highest in 45,X, 45,X/iso q or ring chromosome karyotypes where up to 7.5% have positive coeliac antibodies.
“The prevalence of coeliac disease increases with age725,726 and is highest in 45,X, 45,X/iso q or ring chromosome karyotypes where up to 7.5% have positive coeliac antibodies.26,630”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [26]
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Approach to the Patient With Turner Syndrome
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Premature Ovarian Insufficiency, Menopause, and Hormone Replacement Therapy
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Caracterización de una cohorte de pacientes pediátricas con Síndrome de Turner
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- Authors
- Cameron‐ Pimblett, A., La Rosa, C., King, T. F. J., Davies, M. C., & Conway, G. S.
- Affiliations
- Reproductive Medicine Unit University College London Hospital London UK
- University College Hospital (GB)
- Venue
- Clinical Endocrinology
- Publisher
- Wiley
- Published
- 2017-07-24
- Volume
- 87
- Issue
- 5
- Pages
- 532-538
- ISSN
- 0300-0664 (ISSN-L)
- 1365-2265
- OpenAlex
- W2625554565
- Cited by
- 161
- References
- 17
- Citations by year
- 2026: 13 · 2025: 22 · 2024: 14 · 2023: 24 · 2022: 11 · 2021: 22 · 2020: 13 · 2019: 27 · 2018: 11 · 2017: 2
- FWCI
- 9.60
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Clinical Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute for Health Research
- University College London
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- Turner syndrome, 45,X/46,XX mosaicism, isochromosome Xq, ring X chromosome, 45,X/46,XY mosaicism, comorbidities, metabolic syndrome, thyroid dysfunction, hearing loss, bone mineral density, blood pressure, adult women
- MeSH terms
- Adolescent, Child, Child, Preschool, Female, Humans, Infant, Mosaicism, Phenotype, Turner Syndrome, Comorbidity, Isochromosomes, Chromosomes, Human, X, Karyotype
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