Turner's syndrome: challenges of late diagnosis
Abstract
Girls and women with Turner's syndrome who come to medical attention older than 12 years present a challenge of medical management. Puberty is already delayed and some compromises have to be made in adjusting the timing of artificially induced puberty to optimise overall outcome with respect to stature, secondary sex characteristics, and psychosocial endpoints. Additionally, individuals who present with primary amenorrhoea to adult services might miss the opportunity for effective growth hormone treatment. Further, induction of puberty regimens lack an evidence base or even clear guidelines for the timing and dose of oestrogen replacement. We have searched the scientific literature to inform management of Turner's syndrome.
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When girls with TS are not identified in infancy by characteristic features such as lymphedema and webbed neck, the diagnosis is often made years after growth failure ensues, and sometimes little or no growth potential remains.
“When girls with TS are not identified in infancy by characteristic features such as lymphedema and webbed neck, the diagnosis is often made years after growth failure ensues, and sometimes little or no growth potential remains.28,85-88”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [87]
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- Authors
- Lee, M. C., & Conway, G. S.
- Affiliations
- University College London (GB)
- ORCID
- Conway, Gerard S
- Venue
- The Lancet Diabetes & Endocrinology
- Publisher
- Elsevier BV
- Published
- 2014-04
- Volume
- 2
- Issue
- 4
- Pages
- 333-338
- ISSN
- 2213-8587 (ISSN-L)
- OpenAlex
- W2150858951
- Cited by
- 48
- References
- 62
- Citations by year
- 2026: 2 · 2025: 6 · 2024: 4 · 2023: 7 · 2022: 6 · 2020: 1 · 2019: 6 · 2018: 7 · 2017: 5 · 2016: 3 · 2015: 1
- FWCI
- 0.16
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Lancet Diabetes & Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- 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 › Hypothalamic control of reproductive hormones
- Keywords
- Turner syndrome, delayed diagnosis, delayed puberty, estrogen replacement therapy, growth hormone therapy, primary amenorrhea, secondary sexual characteristics
- MeSH terms
- Adolescent, Adult, Body Height, Child, Female, Humans, Puberty, Turner Syndrome, Young Adult, Delayed Diagnosis
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