Background: Evidence based treatment of patients with Disorders of sex development (DSD) is challenged by a dearth of outcome studies.
Objective and hypotheses: To study the quality of life and the psychological outcomes of children with DSD other than congenital adrenal hyperplasia (CAH) and to identify relevant risk factors.
Method: Patients with DSD other than CAH aged between 6 and 18 years. Control subjects were matched for age and gender. Study tools were the Paediatric Quality of Life (PedQOl) and the parent reports on the Child Behaviour Checklist (CBCL). Patients were grouped by karyotype and sex of rearing/recent gender.
Results: 30 patients with 46XY-Male (n=21), 46XY-Female (n=6), 46XX-Male (n=2) and 46XX-Female (n=1). Median age of this population was 12 years . The total PedQOL score was significantly lower in the patient group than in the control group (P<0.05) In subgroup analysis this difference was reflected (P<0.05) in the social and schooling fields. The patient group also had a significantly higher (more pathological) CBCL score as compared to the control group in the internal and external score realms and also in most domains namely affective, anxiety, attention deficit and conduct problems (P<0.05). In addition among the 46XY DSD group the patients who were raised female had significantly lower quality of life especially in the social and schooling fields as compared to their female counterparts. Males with 46 XY DSD had significantly higher internalizing behaviour problems as compared to their male control counterparts. Further analysis revealed that the degree of virilisation at birth did not significantly influence the PedQOl or CBCL scores.
Conclusion: The present study revealed an overall reduction in quality of life scores and a higher degree of psychological distress in patients with DSD. Early identification and referral for psychological support should be an integral part of the management of these patients.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology