Either Abstract

(Paediatric), #220531681042

Clinical Features and Short Term Outcomes in Children with Turner's Syndrome in a Children's Hospital

Pamela Lee Ling TAN, Paediatrics Department, Sabah Women and Children's Hospital Likas; Song Hai LIM, Paediatrics Department, Sabah Women and Children's Hospital Likas

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Introduction

Turner Syndrome is the most common sex chromosome abnormality in girls. This syndrome is usually diagnosed in girls with characteristic features with a partial or complete absence of one X chromosome. We aim to describe the clinical features and short term outcomes in the girls.

Methods

This is a descriptive study. All Turner's syndrome patients whom attended the endocrine clinic in Sabah Women and Children's Hospital were enrolled. Data was obtained through a review of their case folders. Diagnosis of Turner's syndrome was confirmed via chromosomal study postnatally. Their clinical features and short term outcomes were described.

Results

Four Turner's girls were identified. The mean age of diagnosis was at 6.3 +/- 4.8 years old. All had previous medical encounters prior to diagnosis. There is an assortment of chromosomal types found in our cohort whereby all are mosaic Turner's. All of them had classical features of short stature, webbed neck, broad chest and deep seated nails. Two of them had thyroid antibodies detected but only one with thyroid dysfunction. All did not have hearing loss, cardiac or renal problems. Two of them received growth hormone treatment, however only one completed the treatment with modest response in height gain. Three of them received pubertal induction at mean age of 11.4 +/- 0.3 years old and puberty is currently in progress.

Conclusion

High index of suspicion is needed to diagnose girls with Turner syndrome despite this being a relative common syndrome. Early diagnosis may confer a better outcome to this group of patients.

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