Childhood congenital adrenal hyperplasia QoL affected by height and weight

medwireNews: A study of children and young people with congenital adrenal hyperplasia (CAH) in the UK shows poor quality of life (QoL) in this patient population compared with healthy peers, with height and weight significant predictors of this outcome.

“Clinicians can use the data presented in this study to advocate for further dietary and psychological support for those living with CAH, can consider the use of the psychometric questionnaires PedsQL [Paediatric QoL] and SDQ [Strengths and Difficulties Questionnaire] to help monitor their QoL, and direct resources towards those that require psychological support”, say Nils Krone, from the University of Sheffield in the UK, and co-investigators.

Their cohort included 104 patients attending 14 UK tertiary care centres in 2016–2018 at age 8–18 years (average 12.7 years); 54.8% of the patients were girls and the majority were White (74.0%) or Asian Pakistani (18.3%).

Overall, 75.0% of patients were diagnosed with salt-wasting CAH, 19.2% with simple virilising CAH and 5.8% had non-classic CAH, and 20.2% of the 57 girls had previously undergone genital surgery.

Patients and carers were both asked to complete the PedsQL measures for physical, emotional, social and school functioning, and the SDQ domains on emotional symptoms and problems with conduct, hyperactivity–inattention, peers and positive prosocial behaviours.

Questionnaires from 95 patients showed lower QoL in the CAH cohort compared with the age-related normative values, the investigators report in The Journal of Clinical Endocrinology & Metabolism.

There were significant deficits in PedsQL scores for emotional and school functioning and the SDQ peer problems domain, although PedsQL social functioning was better for the CAH cohort than normative values, the team says.

And QoL scores from 94 parents were “markedly inferior to normative values”, the researchers say, with significantly worse values in PedsQL psychosocial health, emotional and school functioning, as well as for SDQ measures of emotional symptoms and peer problems.

Although total scores by patients did not significantly differ from normative values, scores from parents were significantly poorer than normative values for both the PedsQL and the SDQ. Overall, 15.8% of SDQ patient reports were classified as “abnormal”, as were 13% of parent reports, with the greatest difficulties noted by patients and parents being hyperactivity and emotional problems, respectively.

Of note, total QoL scores did not significantly differ between boys and girls, patients with simple virilising versus salt-wasting CAH, or girls who had and had not undergone genital surgery. Nor was there a correlation between QoL and total daily dose of hydrocortisone equivalent.

However, multiple regression indicated that taller height and lower weight standard deviation scores were significantly associated with better PedsQL scores, driven by reductions in physical health scores reported by shorter and heavier children and young people.

“The association between poorer QoL in our cohort and detrimental biometric indices is further evidence of the importance of optimising treatment in CAH to achieve best possible growth trajectories, reducing excessive weight gain and targeting maximum height potential to optimise overall QoL”, comment Krone et al.

Furthermore, there was a significant correlation between lower concentrations of steroid biomarkers in girls and a higher SDQ difficulties score, indicating poorer QoL. And this was true when assessing levels of 17-hydroxyprogesterone, androstenedione, testosterone, 11-ketotestosterone and 11β-hydroxyandrostenedione. By contrast, no such relationship was found among boys.

“There is still a lack of consensus about precise ranges of [17-hydroxyprogesterone] and other steroid biomarkers to target in CAH, but the association between lower biomarkers and poorer QoL reported here is further evidence that over suppression of adrenal steroid hormones may be detrimental to patients with CAH, and that one might need to consider the sex of the patient when interpreting these biomarkers,” the researchers remark.

The team concludes: “Longitudinal repeated measures studies into the QoL of [children and young people] with CAH assessing their biometrics and steroid biomarkers are indicated to add insight into how best to manage this disease.”

By Lynda Williams

medwireNews is an independent medical news service provided by Springer Healthcare Ltd. © 2023 Springer Healthcare Ltd, part of the Springer Nature Group

J Clin Endocrinol Metab 2023; doi:10.1210/clinem/dgad405
Martin Savage
Programme Director
Sign up for eAlerts
Be the first to hear about new resources and content by signing up to receive our eAlerts.

We'd love your feedback!

Please complete this short 5-question survey to help improve the content offered on this website.
Please rank the following aspects of the program from best [1] to worst [4].