Abstract:

BACKGROUND: Short stature is very common in pediatrics, which is caused by many reasons, such as polygenetic aspects, chrosomal disease, metabolic disease, endocrine disease, malnutrition and so on. Among them, sex chromosome abnormality is a very important etiologic agent causing short stature in female children.
OBJECTIVE: To explore the cytogenetic reason of short female children.
METHODS: Karyotype analysis of peripheral blood lymphocytes was performed on 323 female children with short stature, who were recruited at Affiliated Nanjing Children’s Hospital of Nanjing Medical University from September 2007 to September 2009, including 51 children below 6-year-old, 234 children between 6- and 13-year-old, and 38 children more than 13-year-old.
RESULTS AND CONCLUSION: In total, 87 cases out of the 323 girls had abnormal chromosome (26.93%). Among them one case was autosome abnormal, and the other 86 cases were X chromosome abnormal (26.6%). Sex chromosome abnormality is a very important etiologic agent causing short stature in female children. This should be highly emphasized by the clinicians.