CLINICAL FEATURES AND SHORT-TERM OUTCOMES OF CHILDREN WITH TURNER SYNDROME IN A CHILDREN'S HOSPITAL

Abstract

INTRODUCTION

Turner syndrome (TS) is the most common sex chromosome abnormality in girls. This syndrome is usually diagnosed in girls with characteristic features and a partial or complete absence of one X chromosome. We aimed to describe the clinical features and short-term outcomes of the children with TS being seen at our hospital.

METHODOLOGY

This is a descriptive study. Children with TS  who attended the endocrine clinic in Sabah Women and Children's Hospital were enrolled. We obtained their pertinent data through a review of their case folders. Diagnosis of TS was confirmed via chromosomal study postnatally. Their clinical features and short-term outcomes were described.

RESULTS

Four girls with TS were included in our study. The mean age at diagnosis was 6.3 +/- 4.8 years old. All had previous medical encounters before diagnosis. All four girls had 45, X mosaicism by chromosomal analyses. All of them had the classical features of short stature, webbed neck, broad chest, and deep-seated nails. Two had thyroid antibodies detected but only one had thyroid dysfunction. None had hearing loss, cardiac or renal problems. Two received growth hormone treatment, however only one completed the treatment with a modest response in height gain. Three received pubertal induction at a mean age of 11.4 +/- 0.3 years with pubertal progression.

CONCLUSION

A high index of suspicion is needed to diagnose girls with TS despite this being a relatively common syndrome. Early diagnosis may confer a better outcome in this group of children.