Analysis of clinical profile of children with congenital adrenal hyperplasia

ABSTRACT

To evaluate our data of children with congenital adrenal hyperplasia [CAH]. Descriptive study. The study was conducted at the National Institute of Child Health, from 2001-2004. All children with CAH presenting at the endocrine clinic were included. A questionnaire was completed regarding age, sex, mode of presentation etc. Out of 54 patients of CAH seen at our clinic in five years, we found significantly fewer males [9 - 16.6%] than females [45 -83.4%]. Nineteen had salt wasting [SW] and 35 had simple virilizing [SV] type of CAH. Time elapsed before the diagnosis was 46 days in our children with SW variety. The fewer number of salt waster CAH along with the fewer male patients strongly indicate that these children may be dying from an undetected salt wasting episode or we may have a different genotype. It is therefore recommended that increased awareness of the condition is required both in the general population as well as the medical community. Further work on the genotype/phenotype correlation is also needed to look at the local genotype involved in this condition