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

Yee Lin Lee, Loo Ling Wu

Research output: Contribution to journalArticle

Abstract

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. Unlikthe 45,X karyotype, non-classic Turner syndrome has clinical features which may be subtle and difficult to discern. Oufindings underscore the importance of proper serial anthropometric measurements in children. Awareness for the widspectrum of presenting features and careful examination for Turner specific clinical features is crucial in all short girlto prevent a delay in diagnosis.

Original languageEnglish
Pages (from-to)22-28
Number of pages7
JournalJournal of the ASEAN Federation of Endocrine Societies
Volume34
Issue number1
DOIs
Publication statusPublished - 1 Jan 2019

Fingerprint

Turner Syndrome
Malaysia
Karyotype
Metacarpal Bones
Mosaicism
Metatarsal Bones
Lymphedema
Nails
Medical Records
Neck
Cross-Sectional Studies
Chromosomes

Keywords

  • Karyotype
  • Lymphoedema
  • Short stature
  • Turner syndrome
  • Webbed neck

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

Clinical features of girls with turner syndrome in a single centre in Malaysia. / Lee, Yee Lin; Wu, Loo Ling.

In: Journal of the ASEAN Federation of Endocrine Societies, Vol. 34, No. 1, 01.01.2019, p. 22-28.

Research output: Contribution to journalArticle

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