Controversy persists surrounding early management of disorders of sex development. We assessed genital appearance, gender identity, and quality of life in prepubertal children who have had early surgical intervention.
Children treated for disorders of sex development who were 5 to 10 years of age were eligible (n = 54). Children were scored (modified Creighton scale) for anatomical and cosmetic outcome, and both patients and parents completed PedsQL quality-of-life and gender identity questionnaires, with ethics approval.
Of 54 patients, 41 presented for review. Treatment began at 13.2 (1.8-250.1) months (median; range) and were reviewed at 7.5 ± 2.1 (mean ± SD) years of age. Nineteen were raised as girls and 22 as boys. Girls had good (85%) or satisfactory (15%) anatomical/cosmetic outcome, whereas 52% boys had good, 38% satisfactory, and 10% poor cosmetic outcomes. On gender identity questionnaire, boys scored 3.9 ± 0.4 (mean ± SD) and girls 3.6 ± 0.5; 1 of 19 boys and 3 of 19 girls had lower scores, suggesting risk of gender identity disorder. Quality-of-life scores were 80+ for physical and 65 to 80 for psychosocial scores.
Early intervention is generally associated with positive outcomes for patients and parents. Girls had better anatomical outcomes than boys, and gender dysphoria risks were low in both sexes.
So it's clear: Early Intervention is good, no if's and's or but's.
Let's look a little closer though at the details, by looking at the authors' illuminating reply to critique:
Triea et al suggest that without evaluating sexuality, sexual relationships, and sexual functioning, follow-up studies of DSD patients are meaningless. Although we agree that these are important outcome measures in older patients and should be included in research involving older cohorts, these issues are not yet measurable in our study population aged 5 to 10 years. Furthermore, we do not feel that the age-appropriate assessment of children with DSD should be ignored because of their lack of sexual maturity, and we maintain that the issues of genital appearance, sex identity, and quality of life are important during childhood and not merely in adolescence. In addition, we have already performed a long-term review addressing the issues raised by the authors, and this is cited below .
In their letter, the authors have rightly pointed out that a good cosmetic result from feminizing genital surgery does not imply normal sexual functionality, and in our article, we did not suggest anything to the contrary. We acknowledge that achieving sexually functional genitalia for DSD patients through surgery is one of the most integral components of DSD management and deserves attention in follow-up studies of these patients. However, as this is an inappropriate measure in our young pediatric patients, we chose to evaluate cosmesis alone as we believe this independently is still a valuable outcome measure. Normal-appearing genitalia are a key factor in appropriate sex development in children, and early surgery eliminates the shame and secrecy of possessing atypical genitalia. Also, parental anxiety is relieved by normalization of the genitalia of children with DSD, and although this alone is insufficient reasoning to subject these infants to surgery, the resultant promotion of bonding between parent and child is of substantial benefit to children with DSD.
In response to the authors' objections regarding the ability of children to meaningfully answer questions regarding sex identity, we would like to highlight that the questionnaire on sex identity was completed by parents rather than the children themselves, as stated in the methods section of our article.
The authors have also argued that our assessment of sex identity in these patients is meaningless in that sexuality was not taken into account. We acknowledge that sexuality is an exceedingly important issue for adolescent and adult DSD patients and would have been included as an outcome measure had we been studying an older cohort. However, the concept of sex is largely considered to be a triumvirate consisting of sex identity, sex role, and sexuality. The questionnaire completed by parents encompassed the 2 former components, allowing for an assessment of sex development in our young patients. Although we acknowledge that appropriate sex development in this cohort does not preclude issues with sexuality in the future, we maintain that a sex identity and sex role concordant with sex-of-rearing is important across the lifespan of DSD patients, including in childhood.
The concern raised by the authors regarding the stigmatization of patients with DSD as well as unnecessary invasions of their privacy are legitimate...This is also why we decided that the children would answer only one questionnaire (quality of life) that was generic in nature, and the questions regarding sex role and sex identity would be answered by their parents.
 G.L. Warne, S. Grover and J.M. Hutson et al., A long-term outcome study of intersex conditions, J Pediatr Endocrinol Metab 18 (6) (2005), pp. 555–567
So to summarise:
- Quality of Life was only measured Generically.
- The only Success metric for surgery was cosmesis, regardless of the effects of fertility or sensation.
- And they didn't measure gender discordance by asking the child - only the parents.
And on that basis, they make the blanket statement that early surgery is justified.
"Normal-appearing genitalia are a key factor in appropriate sex development in children, and early surgery eliminates the shame and secrecy of possessing atypical genitalia."
And if the child isn't properly ashamed of their body, there must be something wrong with the little freak.
It's all about appearances, you see. Not upsetting other people - the reconstructive surgeons themselves. The parents too of course, and society, but really it's all about how the surgeons feel.
The critique? Letter to the Editor Trier et al, Journal of Pediatric Surgery Volume 44, Issue 9, September 2009, Page 1863
Studies such as this are meaningless unless they evaluate children as adolescents and young adults who have reached the age of sexual maturity and attempted to have sexual relationships. The cosmetic appearance of girls' genitals is largely irrelevant in evaluating sexual functionality. This is often overlooked; it may be easier to surgically fashion reasonable-looking external vulvae, but it is difficult to make female genitals that allow comfortable, practical, painless heterosexual sex.
The same is true in this study's evaluations of sex identity, which is essentially a meaningless concept to 5- to 10-year-olds, because it does not take into account the nature of their sexuality. Five to ten-year-old children do not have the experience and perspective to meaningfully answer questions that hinge upon sexuality and adult sociosexual identities.
When these studies are done with adults with disorders of sex development who are living with all of the sociosexual sequelae of their earlier interventions, we find that everything is not quite as rosy as this study claims. What do children do when they are members of these studies, after years of medicalization, probing interviews, exposure to curious medical personnel, and possibly public exhibition of their bodies? They will want to please their parents and tell adults what they have learned that they want to hear.
University of Hawaii
John A. Burns School of Medicine
Pacific Center for Sex and Society
Honolulu, Hawaii 96822, USA
William G. Reiner
Division of Child and Adolescent Psychiatry
University of Oklahoma Health Sciences Center
Oklahoma City, Okla 73104, USA