BAPS papers
Results from a pediatric surgical centre justify early intervention in disorders of sex development

https://doi.org/10.1016/j.jpedsurg.2008.10.101Get rights and content

Abstract

Background

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.

Methods

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.

Results

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.

Conclusions

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.

Section snippets

Methods

The records of children born between 1997 and 2003 (aged 5-10 years at time of study) who were treated for a DSD at the RCH were retrospectively evaluated. Diagnoses, date of birth, and dates of surgical intervention were noted. Those patients who had not undergone surgery for ambiguous genitalia were excluded. At the time of their review appointments, the study was explained to children and their parents. After obtaining informed consent, children were examined and genitalia scored on a

Results

After review of medical records, 54 children were identified as being eligible for participation in the study. Ten of these patients were lost to follow-up. Of 44 patients, 41 participated in 1 or more component of the study. Diagnoses of female participants included 16 congenital adrenal hyperplasia, 2 ovotesticular DSD, and 1 XX virilisation of unclear cause, and diagnoses of males included 5 mixed gonadal dysgenesis, 3 partial androgen insensitivity syndrome, 3 ovotesticular DSD, 1 5α

Discussion

This study found that acceptable cosmetic results can be achieved by early genital surgery, as 100% of females and 90% of males had satisfactory or better outcomes. Also, when practised in concert with appropriate psychological care as part of a holistic management plan, early intervention results in minimal impairment in quality of life or gender development.

The finding that most patients in our cohort at the RCH had acceptable cosmetic results agrees with other reports in the literature that

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Presented at the 55th Annual Congress of the British Association of Paediatric Surgeons, Salamanca, Spain, July 2-5, 2008.

1

Presenting author.

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