ABSTRACT
The buccal smear test was used to screen for Turner syndrome in a sample of girls with severe short stature who did not have any other clinical features of that condition. The majority of the girls did not show X chromatin bodies in the buccal mucosal cells. None of those who qualified for chromosomal analysis showed an XO chromosomal pattern either. We conclude that reliability of the buccal smear test as a screening method for Turner syndrome remains doubtful.
Subject(s)
Cheek , Child , Child, Preschool , Cytodiagnosis , Female , Growth Disorders/etiology , Humans , Mouth Mucosa/chemistry , Sex Chromatin , Turner Syndrome/complicationsABSTRACT
Growth hormone deficiency is a recognised cause of severe short stature. A community of 16,001 Sri Lankan children aged between 5 and 6 years was screened for short stature using a simple growth chart, and a sample of 172 identified as short was investigated for the aetiology. Growth hormone deficiency was confirmed in 12 out of the 172 children using the insulin-induced hypoglycaemia test. Another group of 27 out of the 172 children who could potentially benefit from growth hormone therapy were identified using an exercise screening test. Growth hormone deficiency has not been previously documented in Sri Lanka.