Pregnancies in patients with congenital adrenal hyperplasia with complete or almost complete impairment of 21-hydroxylase activity

Objective: To show that, with appropriate therapy, women with classic congenital adrenal hyperplasia (CAH) can become pregnant. Design: Observational clinical study. Setting: University hospital. Patient(s): Adult young women with CAH: three with the salt-wasting form and four patients with simple virilizing CAH due to severe homozygous or compound heterozygous mutations of the CYP21B gene (deletions, 1172N in exon 4 and nt656A/C-->G in intron 2) who wished to become pregnant. Intervention(s): After confirmation in the first patient of the beneficial effect of additional treatment with fludrocortisone in lowering 17alpha-hydroxyprogesterone (17-OHP) levels, five other patients were treated with hydrocortisone as three daily doses at 8-hour intervals and fludrocortisone 0.1-0.2 mg daily divided into two to three doses. One patient received glucocorticoid alone. Main Outcome Measure(s): Treatment was controlled on the basis of morning salivary 17-OHP estimates and plasma renin concentrations. Result(s): Nine pregnancies occurred in six women. The course of the pregnancies (except one spontaneous abortion) was normal without any other modification of therapy. Only the women treated with hydrocortisone alone did not become pregnant. Conclusion(s): When treated with a combination of glucocorticoids and mineralocorticoids, sexually active patients with the classic phenotype of CAH can become pregnant.