Management of CAH during pregnancy: optimizing outcomes

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. In the past, pregnancy was considered to be unlikely for women with CAH, particularly the classical forms. The purpose of this review is to provide current information regarding the pathophysiology of CAH, factors relevant for female and male fertility, and recommendations for management during pregnancy.

Individuals with CAH, both female and male, have reduced fertility. For women, chronic anovulation, elevated progestin levels, and aberrant endometrial implantation have been identified as reasons for the subfertility. Testicular adrenal rest tumors, oligospermia, and hypogonadotropic hypogonadism are frequently associated with subfertility in men with all forms of CAH.

Adequate suppression of progesterone appears to be an essential aspect of preconception management for women. Most importantly, treatment needs to be individualized. Awareness of these factors and appropriate therapeutic interventions can lead to successful outcome defined as a healthy live born infant.