Abstract
Background. Our knowledge on long-term outcome in CAH remains incomplete. Methods. In a prospective study (33 CAH patients, 33 age-matched controls), reproductive outcomes, self-rating of genital appearance and function, and sexuality were correlated to degree of initial virilisation, genotype, and surgery. Results. Patients had larger median clitoral lengths (10.0 mm [range 2–30] versus 3.5 [2–8], P < .001), shorter vaginal length (121 mm [100–155] versus 128 [112–153], P = .12), lower uterine volumes (29.1 ml [7.5–56.7] versus 47.4 [15.9–177.5], P = .009), and higher ovarian volumes (4.4 ml [1.3–10.8] versus 2.8 [0.6–10.8], P = .09) than controls. Satisfaction with genital appearance was lower and negatively correlated to degree of initial virilisation (rs = ≤−0.39, P ≤ .05). More patients had never had intercourse (P = .001), and age at 1st intercourse was higher (18 yrs versus 16 yrs, P = .02). Conclusion. Despite overall acceptable cosmetic results, reproductive outcomes were suboptimal, supporting that multidisciplinary teams should be involved in adult follow up of CAH patients.
Highlights
In a prospective study (33 CAH patients, 33 age-matched controls), reproductive outcomes, self-rating of genital appearance and function, and sexuality were correlated to degree of initial virilisation, genotype, and surgery
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]
Clitoral length was larger in CAH patients (10 mm [2–30 mm]) than in controls (3.5 mm [2–8 mm]), P < .001; see Figure 1
Summary
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. Despite an increasing focus on optimal treatment of CAH patients, our knowledge of long-term outcomes of this condition remains incomplete. Our knowledge on long-term outcome in CAH remains incomplete. In a prospective study (33 CAH patients, 33 age-matched controls), reproductive outcomes, self-rating of genital appearance and function, and sexuality were correlated to degree of initial virilisation, genotype, and surgery. Satisfaction with genital appearance was lower and negatively correlated to degree of initial virilisation (rs =≤ −0.39, P ≤ .05). Despite overall acceptable cosmetic results, reproductive outcomes were suboptimal, supporting that multidisciplinary teams should be involved in adult follow up of CAH patients
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