Early Genital Surgery in Disorders/Differences of Sex Development: Patients' Perspectives

Abstract

Controversy continues over a proposed moratorium on elective genital surgery in childhood for disorders/differences of sex development (DSD). Empirical evidence on patient preference is needed to inform decision-making. We conducted a multicentre survey by cross-sectional questionnaire in 14 specialized clinics in six European countries. The sample comprised 459 individuals (≥ 16 years) with a DSD diagnosis, including individuals with congenital adrenal hyperplasia (CAH) (n = 192), XY DSD with prenatal androgen effect (A) (n = 150), and without (nA) (n = 117). Main outcome measures were level of agreement with given statements regarding genital surgery, including clitoris reduction, vaginoplasty, and hypospadias repair. A total of 66% of individuals with CAH and 60% of those with XY DSD-A thought that infancy or childhood were the appropriate age for genital surgery. Females with XY DSD were divided on this issue and tended to prefer vaginoplasty at a later age (XY DSD-A 39%, XY DSD-nA 32%). A total of 47% of males preferred early hypospadias surgery. Only 12% (CAH), 11% (XY DSD-A), and 21% (XY DSD-nA) thought they would have been better off without any surgery in childhood or adolescence. Individuals who had early genital surgery were more likely to approve of it. Outcome data failed to support a general moratorium on early elective genital surgery. Participant perspectives varied considerably by diagnostic category, gender, history of surgery, and contact with support groups. Case-by-case decision-making is better suited to grasping the ethical complexity of the issues at stake.Trial registration: German Clinical Trials Register DRKS00006072.

Keywords: Congenital adrenal hyperplasia; Disorders of sex development; Ethics; Genital surgery; Pediatrics.

Fig. 1

Participants’ views on postponing genital surgery until the age of legal responsibility

Fig. 2

Participants’ views on the appropriate time for genital surgery. a By diagnostic group, b by gender, only XY DSD-A group, c by contact to support group (total cohort)

Fig. 3

Views of participants with female gender on the need for clitoris reduction surgery

Fig. 4

Views of participants with female gender on appropriate time of vaginoplasty

Fig. 5

Views of participants with male gender on the appropriate time of hypospadias repair

Fig. 6

Participants’ views on surgeries performed in their childhood/adolescence. a By diagnostic group; b by gender, only XY DSD-A group