Cited by 46Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersBRCA gene mutations in cancer

Cancer occurrence in Turner syndrome and the effect of sex hormone substitution therapy

Viuff, Mette Hansen, Stochholm, Kirstine, Lin, Angela, Berglund, Agnethe, Juul, Svend, Gravholt, Claus Højbjerg·2021·European Journal of Endocrinology

Abstract

OBJECTIVE: Although the overall risk of cancer is not increased in Turner syndrome, the pattern of cancer occurrence differs from the general population. We aim to describe the cancer morbidity pattern in Turner syndrome and evaluate the effect of long-term hormone replacement therapy (HRT). DESIGN: Nationwide epidemiological study. METHODS: 1156 females with Turner syndrome diagnosed during 1960-2014, were linked with data from the Danish National Patient Registry. Statistics Denmark randomly identified 115 578 female controls. Stratified Cox regression was used to analyze cancer morbidity, mortality and effect of HRT. RESULTS: Overall risk of cancer was not elevated (hazard ratio 1.04 (95% CI: 0.80-1.36)). The risk of skin cancer and benign skin neoplasms was two-fold increased, while the risk of breast cancer was decreased (hazard ratio 0.4 (0.2-0.9)). Turner syndrome (45,X) had a two- to five-fold increased risk of benign CNS tumors, colon and rectal cancers, benign skin neoplasms and skin cancer. Turner syndrome women with a 45,X/46,XX karyotype had an increased risk of tongue cancer. HRT had no impact on the risk of any cancer investigated in this study. CONCLUSIONS: The lack of one X chromosome might play a role in skin neoplasms, CNS tumors, colon and rectal cancers. The risk of breast cancer is lower than in the general population. Long-term HRT during the premenopausal age range seems not to exert a cancerous effect in Turner syndrome. Increased vigilance concerning specific types of cancer in Tuner syndrome harboring a 45,X karyotype is needed.

Integrity signals

Registry

Crossref · 10.1530/eje-20-0702

Cites

27 of 27 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Viuff, M. H., Stochholm, K., Lin, A., Berglund, A., Juul, S., & Gravholt, C. H.
Affiliations
  • Aarhus University Hospital (DK)
  • Massachusetts General Hospital (US)
  • Aarhus University (DK)
Corresponding author
Viuff, Mette Hansen
Venue
European Journal of Endocrinology
Published
2021-01
Volume
184
Issue
1
Pages
79-88
ISSN
  • 0804-4643 (ISSN-L)
  • 1479-683X
OpenAlex
W3092995379
Cited by
46
References
27
Citations by year
2026: 3 · 2025: 7 · 2024: 11 · 2023: 9 · 2022: 12 · 2021: 4
FWCI
3.66
Type
journal article
Language
en
Open access
closed
Locations
  • European Journal of Endocrinology (publishedVersion)
  • PubMed (publishedVersion)
Funders
Novo Nordisk Fonden (NNF20OC0060610)
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 › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Keywords
Turner syndrome, cancer risk, hormone replacement therapy, skin cancer, benign skin tumor, breast cancer, central nervous system tumors, colon and rectal cancer, tongue cancer, 45,X/46,XX mosaicism, cancer mortality
MeSH terms
Adolescent, Adult, Aged, Aged, 80 and over, Denmark, Female, Humans, Middle Aged, Neoplasms, Registries, Risk, Sex Chromosome Aberrations, Gonadal Steroid Hormones, Turner Syndrome, Incidence, Prevalence, Hormone Replacement Therapy, Young Adult

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review