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Clinical features of girls with turner syndrome in a single centre in Malaysia

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. Th...

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Main Authors: Lee, Yee Lin, Wu, Loo Ling
Format: Article
Language:English
Published: ASEAN Federation of Endocrine Societies (AFES) 2019
Online Access:http://psasir.upm.edu.my/id/eprint/80942/1/TURNER.pdf
http://psasir.upm.edu.my/id/eprint/80942/
https://www.asean-endocrinejournal.org/index.php/JAFES/article/view/541/pdf
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spelling my.upm.eprints.809422020-10-15T02:03:16Z http://psasir.upm.edu.my/id/eprint/80942/ Clinical features of girls with turner syndrome in a single centre in Malaysia Lee, Yee Lin Wu, Loo Ling 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. ASEAN Federation of Endocrine Societies (AFES) 2019-05 Article PeerReviewed text en http://psasir.upm.edu.my/id/eprint/80942/1/TURNER.pdf Lee, Yee Lin and Wu, Loo Ling (2019) Clinical features of girls with turner syndrome in a single centre in Malaysia. Journal of the ASEAN Federation of Endocrine Societies, 34 (1). pp. 22-28. ISSN 0857-1074; ESSN: 2308-118X https://www.asean-endocrinejournal.org/index.php/JAFES/article/view/541/pdf 10.15605/jafes.034.01.05
institution Universiti Putra Malaysia
building UPM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Putra Malaysia
content_source UPM Institutional Repository
url_provider http://psasir.upm.edu.my/
language English
description 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.
format Article
author Lee, Yee Lin
Wu, Loo Ling
spellingShingle Lee, Yee Lin
Wu, Loo Ling
Clinical features of girls with turner syndrome in a single centre in Malaysia
author_facet Lee, Yee Lin
Wu, Loo Ling
author_sort Lee, Yee Lin
title Clinical features of girls with turner syndrome in a single centre in Malaysia
title_short Clinical features of girls with turner syndrome in a single centre in Malaysia
title_full Clinical features of girls with turner syndrome in a single centre in Malaysia
title_fullStr Clinical features of girls with turner syndrome in a single centre in Malaysia
title_full_unstemmed Clinical features of girls with turner syndrome in a single centre in Malaysia
title_sort clinical features of girls with turner syndrome in a single centre in malaysia
publisher ASEAN Federation of Endocrine Societies (AFES)
publishDate 2019
url http://psasir.upm.edu.my/id/eprint/80942/1/TURNER.pdf
http://psasir.upm.edu.my/id/eprint/80942/
https://www.asean-endocrinejournal.org/index.php/JAFES/article/view/541/pdf
_version_ 1681490833347444736
score 13.211869

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