Reproductive Function and Fertility in Women with Congenital Adrenal Hyperplasia

Abstract

Congenital adrenal hyperplasia (CAH) refers to a group of disorders that are associated with defective adrenal steroidogenesis, the most common of which is 21-hydroxylase deficiency. The advent of neonatal screening, molecular genetics, and glucocorticoid and mineralocorticoid replacement has vastly improved the diagnosis and treatment of CAH; therefore, most infants and children with CAH successfully transition into adulthood. Several quality-of-life issues emanate from this transition, of which reproduction and fertility are notable. In this review, the authors appraise the effects of elevated androgens in CAH on the anatomic, hormonal, and psychosocial aspects of reproductive function. These CAH-associated alterations in reproductive anatomy or endocrine function can impair natural fertility, most often depending on the severity of CAH. In addition to assessing the fertility rates of women with CAH attempting natural conception, as well as those requiring assisted reproductive treatments, the authors also review data pertaining to the mode of delivery and pregnancy outcomes in these women. Finally, the importance of reproductive and preconception counselling in women with CAH attempting conception is briefly discussed.