Turner syndrome and fertility
Open accessAbstract
Turner syndrome (TS) is tightly associated with hypergonadotropic hypogonadism and ovarian dysgenesis, typically resulting in infertility in the great majority of patients. Therefore females with TS are usually treated with female sex steroids from 11-12years of age until the normal age of natural menopause of around 53-54years of age. Infertility is rated among females with TS as a distressing concern and a detractor from a good quality of life. Options for motherhood for females with TS has expanded during recent years. Originally, only adoption was an option, unless of course for the small minority of TS females that still has ovarian function and are capable of achieving pregnancy through normal means. Oocyte donation has become the mainstream option in many countries and seems to work well, especially if patients have been treated with optimal estrogen and gestagen for a prolonged time before the intervention. It comes with an increased risk of cardiovascular complications and TS oocyte donation pregnancies are viewed as high risk pregnancies necessitating increased vigilance. Oocyte cryopreservation of own oocytes is also becoming an option in a select group of TS and has special challenges. Ovarian tissue cryopreservation is a promising new techniques that has been applied successfully in children with cancer. Currently, several trials are running around the world evaluating this techniques in TS. The genetics and genomics behind the ovarian dysgenesis seen in TS is not understood, but new studies have elucidated global changes in DNA methylation and RNA expression in blood from persons with TS and it is likely that similar changes are present in the ovaries. We still, however, need more thorough research to fully uncover the genetic background of ovarian failure in TS. Gene expression studies and methylation analysis from ovarian TS tissues still needs to be performed.
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The utility of oocyte cryopreservation in individuals with TS who have underlying ovarian insufficiency is unknown.
“However, the utility of oocyte cryopreservation in individuals with TS who have underlying ovarian insufficiency is unknown.578,593-595”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [594]
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‘I'm still a woman’: A qualitative study on sexuality in heterosexual women with Turner Syndrome
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- Authors
- Viuff, M., & Gravholt, C. H.
- Affiliations
- Aarhus University Hospital (DK)
- Corresponding author
- Gravholt, Claus H.
- Venue
- Annales d Endocrinologie
- Publisher
- Elsevier BV
- Published
- 2022-08
- Volume
- 83
- Issue
- 4
- Pages
- 244-249
- ISSN
- 0003-4266 (ISSN-L)
- OpenAlex
- W4283119735
- Cited by
- 36
- References
- 79
- Citations by year
- 2026: 4 · 2025: 10 · 2024: 11 · 2023: 8 · 2022: 3
- FWCI
- 4.82
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Annales d Endocrinologie (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- Independent Research Fund Denmark (0134-00406A)
- AP Moller Fonden
- Fonden til Lægevidenskabens Fremme
- Familien Hede Nielsens Fond
- Novo Nordisk Foundation (NNF15OC0016474, NNF20OC0060610)
- Danmarks Frie Forskningsfond
- Aarhus Universitet
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Reproductive Biology and Fertility
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Keywords
- Turner syndrome, infertility, hypergonadotropic hypogonadism, ovarian dysgenesis, oocyte donation, oocyte cryopreservation, ovarian tissue cryopreservation, female sex hormones, DNA methylation, gene expression, pregnancy complications
- MeSH terms
- Female, Fertility, Humans, Infertility, Pregnancy, Quality of Life, Turner Syndrome, Cryopreservation, Primary Ovarian Insufficiency, Fertility Preservation
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