Background: Few studies have focused on the quality of life (QoL) of patients with disorders of sex development (DSD).
Objective and hypotheses: Our aim was to evaluate QoL in DSD patients with defined diagnoses followed until adulthood in a single tertiary centre.
Method: Subjects: adult DSD patients (56 patients with 46,XX DSD 49 with female social sex and seven with male social sex as well as 88 patients with 46,XY DSD 54 with female social sex and 34 with male social sex). Measurement: quality of life evaluation using WHOQOL-Bref questionnaire.
Results: Both 46,XX and 46,XY DSD patients had similar QoL scores on the WHOQOL-Bref, comparable to the scores of the Brazilian general population. The chronological age at the start of treatment was negatively and significantly associated with general QoL score. Male social sex DSD patients had better scores on the psychological domain than female social sex DSD patients, as found in the Brazilian general population. In addition, among the 46,XY DSD group, the male social sex patients had better QoL compared to the female social sex patients. There was a positive and significant correlation between sexual performance and general QoL, although it explained only 4% of the variability of the general QoL score. The most influencing variables were general health, positive feelings and spirituality, religion and personal beliefs, each of them contributing with 18% of the variability of the general QoL score.
Conclusion: Our large cohort of adult DSD patients, which was followed by a multidisciplinary team in a single tertiary centre, had good QoL in adulthood; in addition, late treatment compromised the QoL of DSD patients, whereas sexual performance has little influence on QoL.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology