Clinical features of girls with Turner syndrome in a single centre in Malaysia
Open accessAbstract
OBJECTIVES: Diagnosis of Turner syndrome in Malaysia is often late. This may be due to a lack of awareness of the wide clinical variability in this condition. In our study, we aim to examine the clinical features of all our Turner patients during the study period and at presentation. METHODOLOGY: This was a cross-sectional study. Thirty-four (34) Turner patients were examined for Turner-specific clinical features. The karyotype, clinical features at presentation, age at diagnosis and physiologic features were retrieved from their medical records. RESULTS: Patients with 45,X presented at a median age of 1 month old with predominantly lymphoedema and webbed neck. Patients with chromosome mosaicism or structural X abnormalities presented at a median age of 11 years old with a broader clinical spectrum, short stature being the most common presenting clinical feature. Cubitus valgus deformity, nail dysplasia and short 4th/5th metacarpals or metatarsals were common clinical features occurring in 85.3%-94.1% of all Turner patients. Almost all patients aged ≥2 years were short irrespective of karyotype. CONCLUSION: Although short stature is a universal finding in Turner patients, it is usually unrecognised till late. Unlike the 45,X karyotype, non-classic Turner syndrome has clinical features which may be subtle and difficult to discern. Our findings underscore the importance of proper serial anthropometric measurements in children. Awareness for the wide spectrum of presenting features and careful examination for Turner specific clinical features is crucial in all short girls to prevent a delay in diagnosis.
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Lymphedema is reported more often in association with a 45,X karyotype compared to other karyotypes.
“Lymphedema is reported more often in association with a 45,X karyotype compared to other karyotypes.673,676”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [676]
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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
- Malaysia, U. P., Yee, Y. L., Wu, L. L., & Universiti Kebangsaan Malaysia Medical Centre
- Affiliations
- Universiti Putra Malaysia (MY)
- University Kebangsaan Malaysia Medical Centre (MY)
- Venue
- Journal of the ASEAN Federation of Endocrine Societies
- Published
- 2019-07-30
- Volume
- 34
- Issue
- 1
- Pages
- 22-28
- ISSN
- 0857-1074 (ISSN-L)
- 2308-118X
- PMC
- PMC7784167
- OpenAlex
- W2947596570
- Cited by
- 5
- References
- 24
- Citations by year
- 2026: 1 · 2024: 2 · 2022: 1 · 2021: 1
- FWCI
- 0.30
- Type
- journal article
- Language
- en
- Open access
- diamond
- doi.org
- Licence
- cc-by-nc
- Locations
- Journal of the ASEAN Federation of Endocrine Societies (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Universiti Putra Malaysia Institutional Repository (Universiti Putra Malaysia) (acceptedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (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
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- Turner syndrome, 45,X karyotype, short stature, cubitus valgus, nail dysplasia, lymphedema, webbed neck, age at diagnosis, delayed diagnosis, X chromosome structural abnormalities, anthropometric monitoring, girls
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