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Quality of Life in Children With Congenital Adrenal Hyperplasia: A Tertiary-Center Case-Control Study
Özlem Nalbantoğlu1, Özge Köprülü1, Fatma Yavuzyılmaz Şimşek1
1Department of Pediatric Endocrinology, University of Health Sciences, Dr. Behçet Uz Children's Hospital, İzmir, Turkey.
Insights
Children and adolescents with congenital adrenal hyperplasia (CAH) generally have comparable health-related quality of life (HRQoL) to peers. Younger children with CAH showed better physical functioning, while adolescents experienced lower school functioning, indicating a need for age-specific support.
Area of Science:
- Pediatric Endocrinology
- Genetics and Genomics
- Quality of Life Research
Background:
- Congenital adrenal hyperplasia (CAH) is a genetic disorder of steroidogenesis requiring lifelong treatment.
- The impact of CAH on pediatric health-related quality of life (HRQoL) remains incompletely understood.
- Limited data exists on HRQoL in specific pediatric populations with CAH.
Purpose of the Study:
- To compare HRQoL in pediatric patients with CAH against healthy controls.
- To investigate the influence of age, sex, ambiguous genitalia, and glucocorticoid dosage on HRQoL in CAH.
- To provide insights into the lived experiences of children and adolescents with CAH.
Main Methods:
- A cross-sectional case-control study involving 25 children/adolescents with CAH and 25 matched healthy controls (aged 5-18).
- HRQoL assessed using the Pediatric Quality of Life Inventory (PedsQL™ 4.0) via self and parent proxy reports.
- Participants stratified into age groups (5-6, 7-12, 13-18 years); clinical data collected.
Main Results:
- Overall HRQoL scores were comparable between CAH patients and controls.
- Children aged 7-12 with CAH reported higher physical functioning and total HRQoL than controls.
- Adolescents (13-18) with CAH showed significantly lower school functioning; no differences by sex, genitalia, or dose.
Conclusions:
- Pediatric patients with CAH achieve HRQoL comparable to healthy peers when adequately treated.
- Age-specific HRQoL variations noted: younger children may have enhanced physical well-being, adolescents face reduced school functioning.
- Multidisciplinary, age-sensitive management is crucial, emphasizing psychological and academic support for adolescents with CAH.
Background:
Congenital adrenal hyperplasia (CAH) is a chronic endocrine disorder affecting adrenal steroidogenesis, often requiring lifelong glucocorticoid therapy. Its impact on health-related quality of life (HRQoL) in pediatric patients is inconsistent in the literature, with limited data from specific populations.
Objective:
To compare HRQoL in children and adolescents with CAH to healthy peers, and to evaluate the influence of age, sex, ambiguous genitalia, and glucocorticoid dose.
Methods:
This cross-sectional case-control study included 25 children and adolescents with CAH (aged 5-18 years) and 25 healthy controls frequency-matched for age and sex. HRQoL was assessed using the Pediatric Quality of Life Inventory (PedsQL™ 4.0) via child self-reports and parent proxy reports. Participants were grouped by age: 5-6, 7-12, and 13-18 years. Clinical data, including, presence of ambiguous genitalia, and glucocorticoid dose, were recorded.
Results:
Overall, HRQoL scores were similar between CAH patients and controls. Age-stratified analysis showed that children aged 7-12 years with CAH reported higher physical functioning (p = 0.037) and total HRQoL (p = 0.04) compared to controls. Adolescents with CAH reported significantly lower school functioning (p = 0.03), while other domains were comparable. No significant differences in HRQoL were observed by sex, ambiguous genitalia, or glucocorticoid dose.
Conclusion:
Children and adolescents with CAH generally achieve HRQoL comparable to healthy peers under adequate treatment. Age-specific differences suggest younger children may experience preserved or enhanced physical well-being, while adolescents are vulnerable to reduced school functioning. These findings highlight the need for multidisciplinary, age-sensitive management strategies that include psychological and academic support, especially during adolescence.
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