Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder characterized by impaired or total loss of activity in the enzyme required for cortisol and aldosterone production, resulting in highly increased adrenal androgen synthesis [1]. Depending on the severity of the underlying defect in CYP21, female CAH patients show varying degrees of genital virilisation. Ambiguous genitalia in the newborn, severe clitoromegaly, and vaginal stenosis may require many diagnostic and surgical procedures, not only initially, but also repetitively during adolescence. Despite an increasing focus on optimal treatment of CAH patients, our knowledge of long-term outcomes of this condition remains incomplete. Thus, the aim of the present study was to evaluate gynecological and reproductive outcomes in a group of women diagnosed with CAH due to 21-hydroxylase deficiency in childhood or adolescence.This study was part of a follow-up study of adult female patients diagnosed with disorders of sex development (DSD) at the University Hospital of Copenhagen (Rigshospitalet) from 1953–2003. Participation rate was 81%. In total, 33 CAH patients with genetically verified CYP21 deficiency were included (30 yrs, 19–52). As previously reported [2, 3], patients with CYP21 deficiency were divided according to the clinical data and the predicted severity of the mutation [4] into salt-wasters (SW, = 21), simple-virilizers (SV, = 6), and late-onset (LO, = 5) CAH. One patient was first diagnosed in adolescence and was in the present study included in the group of patients with late-onset CAH.Diagnosis of CAH patients occurred at a median age of 0 yrs (0–16 yrs). At birth, seven patients with salt-wasting CAH were assigned male gender, but with a reassignment to females during the first months of life, while ten salt-wasters and two simple-virilizers with ambiguous genitalia at birth were assigned female gender. Data on virilisation at birth was missing in two patien