Adult women with 21-hydroxylase deficient congenital adrenal hyperplasia, surgical and psychological aspects

Abstract

Purpose of review: Congenital adrenal hyperplasia (CAH) due to a CYP21A2 deficiency results in prenatal androgen exposure and virilization of the external genitalia. The surgical procedures, indications, timing, and methods used have come under debate during the past decade. The androgen effect on later behaviors adds to the complexity of the situation for these women. The purpose of this review is to update physicians on recent findings regarding the outcome of feminizing surgery, infertility, quality of life (QoL), and psychosexual aspects in women with CAH.

Recent findings: Surgical outcome, also for the more modern techniques used today, has not been entirely satisfactory and QoL assessments paint a dark picture. All psychological effects assessed show a spectrum of severity correlating with the CYP21A2 genotype or disease severity. The prevailing recommendation for sex of rearing is to let all patients with the 46,XX karyotype grow up as girls. This notion has now been challenged regarding patients with the most extreme virilization of genitalia.

Summary: There are large differences in outcome depending on the severity of the disease or CYP21A2 mutation. Care needs to be individualized and centralized to specialized multidisciplinary teams. Feminizing surgery is still not satisfactory for all patients. More studies regarding sex identity are needed.