Quality of Life in Children Diagnosed With Non-classic Congenital Adrenal Hyperplasia.

Sofia Ferreira,Maria João Ferreira,José Luís Castedo,Cintia Castro-Correia,Carla Costa,Paulo Almeida,Davide Carvalho,Marta Canha,Rita Moita

doi:10.7759/cureus.18937

Abstract

BackgroundNon-classical congenital adrenal hyperplasia (NC-CAH) is a chronic disease characterised by excessive androgen production that may negatively affect the quality of life (QoL) of affected patients. Pediatric Quality of Life Inventory 4.0 (PedsQL™) is a validated tool to assess health-related QoL (HRQoL).MethodsA cross-sectional study including 19 patients with NC-CAH was carried out in the pediatric endocrinology department. NC-CAH patients who agreed to participate were included. Anthropometric data was collected. PedsQL™ was applied to the patients and their parents. Patients were divided into four groups according to age: 2-4, 5-7, 8-12, and 13-18 years old. The control group consisted of healthy individuals from the instrument's validation studies for the Portuguese population and the standard control population used in the PedsQL™ validation study.ResultsThe only difference found concerns the parents' score results for children aged 8-12, which showed physical health and emotional dimension scores significantly higher (86.16±9.86 vs.68.90±23.02 p=0.004, 69.17±14.14 vs. 65.82±19.24 p=0.004), while psychosocial health's score and total scale score were significantly lower than the control group (59.99±9.90 vs. 69.34±14.07 p=0.047, 73.11±4.65 vs.78.86±16.61 p=0.017).ConclusionHRQoL scores are not negatively affected by NC-CAH in most group ages, with the exception of the parents' reports on HRQoL for children aged 8-12. Further studies with a greater number of patients are needed to determine the impact of this chronic disease on the HRQoL of children.

Highlights

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of the cortisol synthesis pathway that is most commonly caused by the mutation of the CYP21A1 gene [1,2]
Non-classical congenital adrenal hyperplasia (NC-CAH) is a chronic disease characterised by excessive androgen production that may negatively affect the quality of life (QoL) of affected patients
Our study examines the health-related QoL (HRQoL) in a pediatric cohort comprised solely of NC-CAH patients

Summary

Introduction

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of the cortisol synthesis pathway that is most commonly caused by the mutation of the CYP21A1 gene [1,2]. This results in an enzyme deficiency in the adrenal cortex leading to, in over 90% of the cases, 21-hydroxylase deficiency (21-OHD) [1,3,4,5,6]. Non-classical congenital adrenal hyperplasia (NC-CAH) is a chronic disease characterised by excessive androgen production that may negatively affect the quality of life (QoL) of affected patients. Pediatric Quality of Life Inventory 4.0 (PedsQLTM) is a validated tool to assess health-related QoL (HRQoL)

Methods

Discussion

Conclusion