Increased detection of co-morbidities with evaluation at a dedicated adult Turner syndrome clinic
Abstract
OBJECTIVES: Turner syndrome (TS), resulting from complete/partial X chromosomal monosomy, is associated with multiple co-morbidities and increased mortality. Although multidisciplinary management is recommended, TS women's health care is sub-optimal. This study evaluates a multidisciplinary adult TS service. METHODS: Retrospective cohort study of 82 patients attending the quarterly TS clinic from December 2003 to December 2014. Evaluation included (1) demographics, (2) TS standardized co-morbidity screening, and (3) estrogen therapy use. Data analysis involved frequency statistics, T tests and polychoric correlation analysis. RESULTS: Median age at TS diagnosis was 14 years (range 0-65 years), with 12% of women aged >18 years. Median age at initial consultation was 31 years (range 16-65 years). Only 14% of patients were transition program referrals. XO karyotype occurred in 30%. Primary amenorrhea predominated; however, 37% of TS women were not taking estrogen therapy. The proportion of patients not previously screened (44-76%) and those with positive screening diagnoses (5-53%) varied according to co-morbidity. The mean (± standard deviation) number of co-morbidities identified increased following TS clinic screening (7.0 ± 2.6 post-screening vs. 4.4 ± 2.3 pre-screening; p < 0.0001). Polychoric correlation analysis identified particular co-morbidity groupings (including metabolism-related) and increased co-morbidities with primary amenorrhea. CONCLUSION: A multidisciplinary adult TS clinic improves health surveillance with increased identification of co-morbidities and initiation of estrogen therapy.
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Up to 37% of women less than 51 years old stop their HRT prematurely.
“There are reports where up to 37% of women less than 51 years old stop their HRT prematurely.29,280,330,334”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [334]
Quality of care and detection of comorbidities improves with adequate adult care.
“Additionally, there is a paucity of specialized adult providers with experience caring for individuals with TS, and quality of care and detection of comorbidities improves with adequate adult care.334,424,555,556”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [334]
There is a paucity of specialized adult providers with experience caring for individuals with TS.
“Additionally, there is a paucity of specialized adult providers with experience caring for individuals with TS, and quality of care and detection of comorbidities improves with adequate adult care.334,424,555,556”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [334]
Consistent screening and detection of comorbidities is inadequate in adults with TS.
“Consistent screening and detection of comorbidities is inadequate in this population, and there is a high rate of inconsistent medication administration.334,556”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [334]
There is a high rate of inconsistent medication administration in adults with TS.
“Consistent screening and detection of comorbidities is inadequate in this population, and there is a high rate of inconsistent medication administration.334,556”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [334]
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- Authors
- Vincent, A. J., Nguyen, H. H., Ranasinha, S., & Vollenhoven, B.
- Affiliations
- Monash Medical Centre (AU)
- Monash Health (AU)
- Monash University (AU)
- Corresponding author
- Vincent, A. J.
- Venue
- Climacteric
- Publisher
- Informa UK Limited
- Published
- 2017-07-28
- Volume
- 20
- Issue
- 5
- Pages
- 442-447
- ISSN
- 1369-7137 (ISSN-L)
- 1473-0804
- OpenAlex
- W2740525860
- Cited by
- 25
- References
- 27
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 3 · 2023: 1 · 2022: 4 · 2021: 3 · 2020: 4 · 2019: 5 · 2018: 2 · 2017: 1
- FWCI
- 2.17
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Climacteric (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 › Health Professions › Speech and Hearing › Adolescent and Pediatric Healthcare
- Keywords
- Turner syndrome, comorbidities, multidisciplinary care, estrogen therapy, primary amenorrhea, health surveillance, transition to adult care, X chromosome monosomy
- MeSH terms
- Adolescent, Adult, Aged, Amenorrhea, Australia, Child, Female, Humans, Middle Aged, Retrospective Studies, Turner Syndrome, Comorbidity, Estrogen Replacement Therapy, Karyotype
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