Living with congenital adrenal hyperplasia: insights on quality of life

Understanding the quality of life (QoL) and factors associated with improved outcomes in individuals with classical congenital adrenal hyperplasia (CAH) can meaningfully inform clinical care.

Adults and caregivers of children with classical CAH completed a cross-sectional mixed-methods survey distributed via the CARES (Congenital Adrenal Hyperplasia Research Education and Support) Foundation website. QoL was assessed using a CAH-specific QoL instrument adapted from the CAHQL. Domains included general health (GH), adrenal insufficiency (AI), glucocorticoid excess (GE), physical functioning (PF), mental health and cognition (MHC); adult surveys also included social functioning (SoF) and sexual functioning (SeF). Scores were transformed to a 0-100 scale, with higher scores indicating better QoL.

A total of 362 surveys were analyzed (response rate 15.7%), including 151 (41%) completed by adults, and 211 (59%) completed by caregivers of children. Among adult respondents, 71.8% were female, 76% resided in the United States (US), 58.1% had private insurance and 18.7% received care from CARES Comprehensive Care Center (CCC)-affiliated providers. Among children, 50% were female, 73% lived in the US, 66% had private insurance and 22.3% received CARES CCC-affiliated care. Adults demonstrated mid-range mean QoL scores across domains with a total mean score of 58.1 (SD 17.7). Children had significantly higher median scores across all five domains (p<0.001, p<0.001, p<0.001, p=0.009, p<0.001). In adults, older age was associated with worse PF and SeF (both p<0.01). Female sex was associated with worse GE and SeF scores (both p<0.01). Public insurance was associated with worse QoL across most domains except for GE and PF (p= 0.01, p= 0.05, p= 0.03, p= 0.02, p= 0.02). In children, older age was associated with worse QoL across domains except PF (p<0.001 for all domains). CARES CCC affiliation was associated with significantly better AI and PF scores (p=0.03, p=0.02) in adults. Finally, long-acting steroid use was associated with worse GE scores (p= 0.03).

Adults with CAH experience poorer QoL compared to children. Older age, female sex and public insurance were associated with worse QoL, while CARES CCC affiliation and hydrocortisone use were associated with improved outcomes.