Psychosocial retrospective follow-up of young adults with congenital adrenal hyperplasia

Objective To investigate life situation and social wellbeing over time, including perceived disease limitations, and quality of life (QoL) in patients with congenital adrenal hyperplasia (CAH). Design A retrospective cross-sectional follow-up study including a structured interview and survey questionnaires on QoL and play-behavior as children. Method Seventy-five patients with CAH due to 21-hydroxylase deficiency (50 females and 25 males, age range 20-60 years) and a control group of 20 healthy females were followed-up. A lifeline describing the participants’ self-reported life situation and social wellbeing was compiled using a numeric rating scale. The lifeline was divided into eight time periods (range 4-31 years). For a subgroup that previously participated in an observed play-behavior study during childhood the retrospective play-behavior questionnaire was validated. QoL was assessed using the AddiQoL questionnaire. Results A genotype-dependent difference in lifeline scores over time was seen during school age with the lowest social wellbeing scores among participants with severe forms of CAH. Females scored lower than males, irrespective of severity, and lower than the control group. Females with CAH reported more perceived social limitation than males. QoL scores correlated with the mean levels of lifeline scores, suggesting that children with poor wellbeing may be at risk of lower QoL as adults. Conclusions A genotype-dependent difference in social wellbeing was seen at an early age, with lower scores in participants with the severe form of CAH. Patients with poor wellbeing as children may be at risk of reduced QoL as adults.