Management of Pregnancy in a Patient with Nonclassical Congenital Adrenal Hyperplasia

ABSTRACT Objective: Patients born with reduced activity of 21-hydroxylase are considered to have nonclassical congenital adrenal hyperplasia (NCCAH). Pregnancy in patients with NCCAH has been well studied; however, only recently have new data emerged that impact how these patients should be treated during pregnancy. Methods: Case report and review of the literature. Results: A 34-year-old pregnant female, 15 weeks 4 days, with a diagnosis of NCCAH presented for management during pregnancy. The implanted embryo was heterozygous for a mild mutation for congenital adrenal hyperplasia (CAH). She was taking dexamethasone, started by her reproductive endocrinologist. Historically, dexamethasone was used to treat pregnant females whose children were at risk of developing CAH with virilizing features. The risks associated with prenatal dexamethasone exposure include reduced birth weight of the offspring. The long-term effects of dexamethasone, recently revealed, include reduced verbal and nonverbal intelligence and reduced verbal working memory tasks in unaffected females exposed prenatally. Women with NCCAH also have a higher rate of miscarriage compared to the general population. A recent study found that there is a higher number of miscarriages in patients with NCCAH occurring without compared to with glucocorticoid treatment. For those women who were treated with hydrocortisone, the recommended dose was 20 to 25 mg/day once pregnancy occurred. Conclusion: Given the data regarding pregnancy in NCCAH, the patient was switched from dexamethasone to hydrocortisone. An understanding of management of pregnancy in women with NCCAH is important for endocrinologists in practice, as these patients are often referred to endocrinologists who will likely follow them throughout their reproductive years. Abbreviations: 21-OH 21-hydroxylase CAH congenital adrenal hyperplasia NCCAH nonclassical congenital adrenal hyperplasia