Health-related quality of life in children with congenital adrenal hyperplasia

Abstract

BackgroundChildren with congenital adrenal hyperplasia (CAH) require life-long glucocorticoid replacement and have daily intermittent hyper/hypocortisolemia and hyperandrogenemia. Health-related quality of life (HRQL) is important for understanding the impact the disease and therapy have on physical, mental, emotional, and social functioning. Little is known about HRQL in CAH. We compared HRQL in children with CAH to healthy norms and examined how these scores related to physiologic variables.MethodsA cross-sectional study examined 45 patients (mean age 8.2(4.5) years). Thirty-two self-reported their quality of life (QoL) on the PedsQL™ Generic Core Scale and PedsQL™ Fatigue Scale, and 44 parents completed a parent report. Bone age Z-scores were calculated from the most recent bone age.ResultsChildren with CAH did not report lower QoL than healthy norms. However, their parents reported lower overall QoL and fatigue scores than parents of healthy norms. Children with CAH rated sleep poorer than their parents. QoL scores did not differ by sex or CAH subtype and were not associated with total daily hydrocortisone dose. Bone age Z-scores were negatively associated with child-reported emotional health and cognitive fatigue.ConclusionsParents of children with CAH reported a negative impact of disease on their children’s QoL, but their children did not. The negative associations between bone age Z-scores and emotional health and cognitive fatigue suggest an impact from chronic hypocortisolemia and hyperandrogenemia.

Psychological adjustment, quality of life, and self-perceptions of reproductive health in males with congenital adrenal hyperplasia: a systematic review

“…Yau et al [ 66 ] found no differences in overall or specific health-related QoL between males and females, but again results were not presented separately. Halper et al [ 65 ] did not find any differences in QoL scores between sex and CAH subtypes. The results from these studies confirm that males with CAH may not have less psychological problems than females with CAH, highlighting the need for future research on this specific population.…”

“…Five studies not included in this review, due to results not being presented separately across genders, also concluded with health-related Qol being affected in people living with CAH [ 65 – 69 ]. Halper et al [ 65 ] report no differences in scores between males and females, but findings were not presented separately, and this paper was therefore not included. The sample consisted of 45 children with CAH.…”

MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency

“…Other than in this study, all or the majority of patients with CAH included in QoL studies have had the classical phenotype. The reports are inconsistent and indicate varying degrees of impaired QoL (18,170,171,172,173,174). The outcome of genital surgery and satisfaction with sexual function affect the general wellbeing and are likely to affect the QoL of women with classic CAH, especially women with the null and I2 splice genotypes (175,176).…”

Cognitive abilities in women with complete androgen insensitivity syndrome and women with gonadal dysgenesis

“…The few studies investigating mental health issues in children with CAH show increased prevalence of ADHD, particularly for boys, and increased prevalence of anxiety disorders (155). Self rated QoL for children with CAH differ slightly from the proxyratings by their parents (156). The areas affected, as rated by the children, is fatigue, whereas their parents state academic underachievement, impaired physical and emotional health and psychosocial outcomes (157).…”