title: Health related quality of life of children and adolescents with congenital adrenal hyperplasia in Brazil.
abstract: BACKGROUND
  Congenital 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.
  
  
  OBJECTIVE
  To evaluate the health related quality of life (HRQoL) of children and adolescents with CAH due to 21-hydroxylase deficiency.
  
  
  METHODS
  In 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.
  
  
  RESULTS
  We 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.
  
  
  CONCLUSIONS
  There 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.
authors.forename: Daniel Luis Schueftan
authors.initials: DL
authors.lastname: Gilban
authors.forename: Paulo Alonso Garcia
authors.initials: PA
authors.lastname: Alves Junior
authors.forename: Izabel Calland Ricarte
authors.initials: IC
authors.lastname: Beserra
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000503:physiopathology / Q000523:psychology; D001938:Brazil; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D006305:Health Status Indicators; D006801:Humans; D008297:Male; D010290:Parents; D011788:Quality of Life; D057566:Self Report; D011795:Surveys and Questionnaires