Successful pregnancy in a woman with rare compound heterozygoticity for congenital adrenal hyperplasia; case report.

ABSTRACT

Pregnancy rates in women with congenital adrenal hyperplasia--even when adequately treated--are reported to be low. We hereby describe our recent experience with the pregnancy of a patient who had congenital adrenal hyperplasia due to a rare combination of P30L/I172N mutations in the CYP21 (21-hydroxylase) gene.