OBJECTIVES: CAH are rare autosomal-recessive disorders affecting cortisol biosynthesis, and characterised by elevated androgen levels and ambiguous genitalia in affected females. In infancy, CAH can cause adrenal insufficiency (AI), a life-threatening condition potentially leading to adrenal crisis. We performed a literature review to identify the burden of CAH and AI of CAH origin, focusing on humanistic and caregiver burden for children.

METHODS: A structured, comprehensive literature review was conducted to identify articles describing the burden and treatment landscape of CAH. Literature databases, websites and conference proceedings were searched. Eligible articles reported CAH or AI of CAH origin, and provided data on ≥1 topic of interest (epidemiology; natural history; clinical characteristics; humanistic, caregiver and economic burden; treatment options; or clinical guidelines).

RESULTS: A total of 2,204 citations were identified, and 226 included in the final review, of which 17 reported humanistic (n=10) or caregiver burden (n=7) for children with CAH (aged 0-18 years; focus on 0-6 years, where reported). None reported humanistic/caregiver burden for children with AI. Children with CAH had significantly (p<0.05) lower quality of life than healthy children, when self- and parent-reported in three studies. CAH was associated with significantly (p≤0.01) higher rates of anxious/depressive, withdrawn/depressive, and aggressive behaviours. Four studies reported issues with sexuality and gender identity. Several studies reported substantial caregiver burden associated with paediatric CAH. Key findings were: caregivers experienced depression (59%); and 61-79% of parents reported concerns over their child’s development. For children aged <6 years, key findings were: caregivers experienced “latent anxiety”, and disruption to daily routines and work life; 61% of parents reported social out-casting as their biggest concern for their child; and 46% of parents interviewed described their own/families’ time as severely affected by having a child with CAH.

CONCLUSIONS: This comprehensive review highlights that paediatric CAH is associated with substantial patient and caregiver burden.