ESPE Yearbook of Paediatric Endocrinology

jai1984yadav@gmail.com Pediatr Endocrinol Diabetes Metab 2021; 27: 266–271. doi: 10.5114/pedm.2021.109269

Brief Summary: The questionnaire-based case control study found that children with classical congenital adrenal hyperplasia (CAH) in northern India reported lower quality of life (QOL), poorer sleep and increased fatigue compared to healthy peers. Children and parents reported different perceptions of QoL.

We live in a time when major improvements in the diagnosis and management of CAH are taking place: neonatal CAH screening is expanding in many countries, slow-release hydrocortisone is being marketed, CRH receptor inhibitors and gene therapy are being investigated. Sadly, in many low- and middle-income countries, high neonatal mortality, stigmatisation, lack of access to life-saving drugs such as hydrocortisone and fludrocortisone remain highly prevalent, and quality of life (QOL) can be poor.

This study finds a modest decrease in QOL (mainly in the school domain) in patients with CAH compared to age- and sex- matched controls. In contrast, fatigue and sleep were significantly affected. An original aspect of this study is the investigation of fatigue in both patients and parents. The parents of children with CAH reported that the QOL of their affected children was lower and their fatigue greater than the parents of control children. Interestingly, this perception was also worse than the perception of the affected children themselves, emphasizing the negative effect of CAH not only on the children but also on their family. A weakness of the study is the difference in the ratio of boys and girls in the affected group (30/70) and the control group (50/50), contrasting with the mention in the “Methods” section that participants were “Age and sex-matched”. Although a greater proportion of girls is expected in the study group (because of the greater mortality of affected baby boys in the absence of a neonatal screening program), this sex difference may confound the overall difference in the perception of QOL and fatigue in the parents of affected and control children.