CONGENITAL ADRENAL-HYPERPLASIA

Congenital adrenal hyperplasia (CAH) is a family of genetic disorders from a deleterious mutation in a gene encoding adrenal steroidogenic e nzyme essential for cortisol biosynthesis. Recent molecular advances h ave provided the genetic basis for the phenotypic variability in CAH, a means for accurately genotyping family members of CAH patients inclu ding prenatal prediction of the genotype in fetuses at risk of the dis order, and have helped to better define the hormonal criteria for the varying spectrum of CAH disorders. Biochemical advances have simultane ously aided the diagnosis and therapeutic monitoring of CAH patients. Prenatal maternal dexamethasone therapy for fetal CAH prevents or mini mizes virilizing sequelae in the majority of prenatally treated affect ed females, but was associated with significant maternal side effects. Newborn screening for CAH has contributed to the prevention of morbid ity of delayed diagnosis of CAH in more than two thirds of affected ne onates. Current treatment methods, however, may not be optimal for ach ieving normal genetic height and appropriate weight in CAH patients, a nd more effective approaches to CAH therapy remain to be explored.