Prenatal diagnosis and treatment of congenital adrenal hyperplasia and consequences in adults.
Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is possible using chorionic villus and amniotic fluid cells for DNA analysis of the CYP21B gene and the C4 and HLA class I and II genes. Mutations can be identified on 95% of the chromosomes using Southern blot analysis and selective amplification of the CYP21B gene by polymerase chain reaction followed by allele-specific hybridization with oligonucleotide probes for a panel of nine known CYP21B mutations. Prenatal treatment with dexamethasone at doses between 0.5 and 2 mg/day is successful in three-quarters of the treated cases in eliminating or reducing the masculinization of the affected female external genitalia. The mother must be closely monitored for any adverse effects to her health such as hypertension or glucose intolerance. Prenatal dexamethasone treatment does not seem to have an adverse effect on growth, psychological development, or school performance except for increased shyness, internalizing and decreased social behavior. Animal studies, however, have shown abnormalities in the fetal brain and behavior of the animals. Prenatal dexamethasone treatment is still offered with caution to the parents of a potentially affected CAH female.
Spiliotis
B E
BE
Department of Pediatrics, University of Patras School of Medicine, Greece. aspil@tee.gr
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000628:therapy*; D000328:Adult; D000818:Animals; D015415:Biomarkers; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D051381:Rats
D015415:Biomarkers