Turner syndrome through the lens of a gynaecologist
Abstract
Turner syndrome is a rare condition affecting 1 in 2500 female births and yet is the most common sex chromosome abnormality in women. Described as a cradle-to-grave condition, it requires life-long multidisciplinary management. Accelerated atresia of the primordial follicular pool leads to premature ovarian insufficiency, which is an almost inevitable feature of Turner syndrome, especially in 45XO karyotype. Many patients will have had their diagnosis made in childhood and require paediatric endocrinology management especially for induction of puberty. At the age of 18, patients may then be transitioned to an adult service. Continuation of multidisciplinary care for these women requires input from specialist services in menopause care, reproductive medicine and high-risk pregnancy, cardiology, endocrinology, bone health and psychosocial care. A gynaecologist may take on the mantle of lead clinician especially during the perceived reproductive years of a Turner syndrome patient's life, hinging together management input from other disciplines. This review attempts to summarise an overview of the involvement of such a multidisciplinary team in the management of a single but complex condition, through the lens of a gynaecologist.
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Maintenance HRT after pubertal induction is continued until the expected age of natural menopause, about 50-55 years, but lower in some populations, aiming for at least 42 years of exogenous estrogen exposure.
“After completing pubertal induction, maintenance HRT is continued until the expected age of natural menopause, about 50-55 years, but lower in some populations,324,325 aiming for a period of at least 42 years of exogenous estrogen exposure mimicking normal physiology of endogenous estrogen exposure.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [324]
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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 · see citing works
- Authors
- Jivraj, S., & Stillwell, S.
- Affiliations
- Sheffield Teaching Hospitals NHS Foundation Trust (GB)
- Jessop Hospital (GB)
- Corresponding author
- Jivraj, Shehnaaz
- ORCID
- Jivraj, Shehnaaz
- Venue
- Post Reproductive Health
- Publisher
- Informa UK Limited
- Published
- 2020-09-21
- Volume
- 27
- Issue
- 2
- Pages
- 98-108
- ISSN
- 2053-3370 (ISSN-L)
- 2053-3691
- 2053-3705
- OpenAlex
- W3087150252
- Cited by
- 5
- References
- 41
- Citations by year
- 2025: 1 · 2024: 2 · 2023: 2
- FWCI
- 0.07
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Post Reproductive Health (publishedVersion)
- PubMed (publishedVersion)
- 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
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Keywords
- Turner syndrome, premature ovarian insufficiency, 45,X karyotype, multidisciplinary care, menopause management, reproductive medicine, high-risk pregnancy, transition to adult care, psychosocial care, bone health
- MeSH terms
- Adult, Child, Female, Humans, Menopause, Premature, Pregnancy, Turner Syndrome, Primary Ovarian Insufficiency
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