Background: Disorders of sex development (DSD), are medical conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Quality of life (QOL) includes important aspects of physical and mental health as well as social interactions, economic conditions, personal views, and their connections the environment. limited researches are available regarding QOL in DSD patients especially children. However, recent studies showed reduction in QOL in DSD patients. Aim of the work: The aim of the study is to assess the quality of life in DSD patients to improve clinical practice in the management of disorders of sex development. Patients and Methods: This cross-sectional study to assess the health-related QOL in 50 DSD children and adolescents who attended the endocrinology clinic at Cairo University Children's Hospital and National Research Centre (NRC) from March 2018 to December 2019, in addition to 50 healthy controls. Results: While comparison between DSD patients who were reared as males and those who were reared as females as regards WHOQOL domains score showed a significant difference in all WHOQOL domains and total score except in physical domain only there was no significant difference. There was a significant difference between 46, XX DSD, 46, XY DSD and Sex chromosome DSD in psychological (D2), environmental domain (D4) and to lesser extent in social domain (D3). Sex chromosome DSD patients were the most affected patients in the 4 WHOQOL domains, which was significantly lower than 46, XX DSD (217.50±66.76) and 46, XY DSD (255.06±48.95) with P value= 0.001. Comparison between 46, XX DSD, 46, XY DSD and sex chromosome DSD patients in age, family history, consanguinity, educational level, surgical and hormonal treatment showed significant difference between the 3 groups in family history and consanguinity with higher percentage of positive family history and consanguinity in 46, XX DSD then 46, XY DSD. DSD patients who received hormonal treatment and underwent surgical correction had significant higher scores in WHOQOL.
Conclusion: Pediatric patients with DSD have significantly lower HRQOL in psychological and social aspects rather than in physical and environmental aspects. HRQOL is relatively more affected in Sex chromosome DSD patients. DSD patients reared as males had a significant better HRQOL than DSD patients reared as females. DSD patients who underwent surgical correction showed a statistically significant positive effect on HRQOL.