Congenital adrenal hyperplasia (CAH) is caused by disorders of the P450c21B gene, which, with the P45Oc21A pseudogene, lies in the HLA locus on chromosome 6. The near identity of nucleotide sequences and endonuclease cleavage sites in these A and B loci makes genetic analysis of this disease difficult. We used a genomic DNA probe that detects the P45Oc21 genes (A pseudogene, 3.2 kb; B gene, 3.7 kb in Taq leles thus can easily be classified with this new probing strategy, eliminating many ambiguities resulting from probing with cDNA.

A multicentric study of prenatal treatment of congenital adrenal hyperplasia (CAH) resulting from 21-hydroxylase deficiency in 43 pregnancies at risk for CAH is presented. The mothers were given dexamethasone per os, 0.5 mg either 12-hourly or 8-hourly. From the analysis of the results obtained in the present study and review of the literature, it would appear that the first condition for successful prevention of female virilization in utero (a total of 6 cases) is to start treatment as early as possible, no later than the 7th week. The dose of dexamethasone should be related to maternal size: 20 micrograms/kg/day (in 2 or 3 fractioned) doses would seem to be both efficient and safe. Adrenal suppression of both maternal and fetal adrenal function should be controlled by appropriate hormonal determinations. Finally, the advantages of early prenatal diagnosis or no prenatal diagnosis are discussed.

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