Health related quality of life of children and adolescents with congenital adrenal hyperplasia in Brazil

Abstract

BackgroundCongenital Adrenal Hyperplasia (CAH) is an endocrine disorder characterized by enzymatic deficiency in adrenal steroidogenesis, leading to adrenal insufficiency and hyperandrogenism. Patients need continuous hormone replacement therapy, but adequate control has proven challenging, exposing patients to undesirable consequences of both disease and treatment.ObjectiveTo evaluate the health related quality of life (HRQoL) of children and adolescents with CAH due to 21-hydroxylase deficiency.MethodsIn an analytical study, generic questionnaires, validated and translated versions, Pediatric Quality of Life Inventory 4.0 (for self-assessment of patients) and Child Health Questionnaire - PF50 (for parents) were applied and mean scores were analyzed with Student’s t-test.ResultsWe included 25 patients (19 female) with classical CAH (14 salt wasting/11 simple virilizing), mean age ± standard deviation (SD) of 11.4 ± 3.6 years (5–17.9), and their parents. Self-assessment of HRQOL showed decrease in mean scores: overall (67.8 ± 15.5 vs. 88.9 ± 7.4, p value = 0.015) and in the physical (75.2 ± 15.0 vs. 95.9 ± 5.8, p value = 0.014) and psychosocial (63.9 ± 17.8 vs. 85.0 ± 9.6, p value = 0.023) dimensions of patients, compared to healthy controls (previously published national data on children and adolescents). The assessment of the parent’s view was concordant, also showing losses in the physical (43.7 ± 8.0 vs. 55.1 ± 3.6, p value = 0.013) and psychosocial (41.9 ± 9.7 vs. 53.0 ± 7.0, p value = 0.025) dimensions. The comparison of HRQOL between subgroups 1) males versus females and 2) salt-wasting versus simple virilizing showed no significant differences.ConclusionThere seems to be a loss of HRQOL in children and adolescents with classical CAH. The self-assessment was concordant in key areas with the assessment made by their parents. No differences were observed between genders or clinical presentation of the disease.

Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome

“…Varying degrees of impaired QoL have been described [59,60,74,79,[93][94][95][96]. In a few publications, no difference from controls was found [97][98][99] and, in one study, even a better QoL compared to controls was reported [100].…”

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

“…Additionally, the chronicity of CAH entails daily medication, close monitoring by parents during childhood, and when needed also by medical health professionals, experiences that in spite of the positive medical benefit of follow-up, have been shown to restrict physical and social development in children with chronic disorders in general [ 53 ]. Whereas some studies have focused on the medical aspects of the condition in males, few studies have explored how CAH could potentially affect these patients' psychological adjustment and quality of life (QoL) [ 54 ]. Consequently, in order to examine whether males with CAH present distinct psychological challenges that would need to be addressed clinically, an updated summary of the literature is needed.…”

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

“…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). For adults, the outcome results are mixed.…”