Health-related quality of life of female patients with congenital adrenal hyperplasia in Malaysia

Ani Amelia Zainuddin,Zaleha Abdullah Mahdy,Khadijah Shamsuddin,Loo Ling Wu,Rahmah Rasat,Mohd Rizal Abdul Manaf,Nur Azurah Abdul Ghani,Sonia Regina Grover

doi:10.1186/s12955-020-01515-9

Abstract

BackgroundThis study investigates the health-related quality of life (HRQOL) of female patients with congenital adrenal hyperplasia (CAH) in Malaysia. The objectives were to attain socio-demographic and medical data on these Malaysian females with CAH and establish their health-related quality of life (HRQOL) in comparison to age matched diabetic controls.MethodsA cross-sectional study was conducted over 6 months in the two main tertiary centres for CAH patients in Malaysia. Participants including 59 female-raised CAH patients (mean age ± SD = 16.3 ± 4.2 years, range 10–28 years) compared to 57 age-matched female diabetic patients (mean age ± SD = 16.5 ± 3.4 years, range 10–26 years). Socio-demographic and medical profiles was obtained through semi-structured interviews. HRQOL of participants were evaluated utilising validated, Malay translated questionnaires which were age appropriate: Pediatric Quality of Life Inventory (PedsQL v4.0) scales for Child (8–12) and Adolescent (13–18) and Medical Outcome Survey 36-item Short Form version. These were then compared to the diabetic controls.ResultsThe CAH participants consisted of children (ages 10–12 years, n = 12), adolescents (ages 13–17 years, n = 29) and adults (≥ 18 years, n = 18). The majority were Malays (64.4%) and had salt-wasting CAH (67.8%). There were no significant differences between the total mean score of the HRQOL of the combined children and adolescents CAH group (total mean score ± SD = 81.6 ± 17.9, 95% CI = 75.6–87.6) when compared to age-matched diabetic patients (total mean score ± SD = 80.8 ± 11.0, 95% CI = 77.0–84.5, P = 0.81, effect size = 0.05); no significant difference between the adult CAH and diabetic controls in the physical [median score (IQR) CAH vs diabetics; 49.3 (11.4) vs. 50.2 (6.1), P = 0.60, effect size = 0.09] and the mental composite scores [median score (IQR) CAH vs. diabetics; 47.8 (14.1) vs. 50.0 (10.8), P = 0.93, effect size = 0.01].ConclusionsThe HRQOL of the Malaysian CAH cohort were comparable to the diabetic controls.

Highlights

This study investigates the health-related quality of life (HRQOL) of female patients with congenital adrenal hyperplasia (CAH) in Malaysia
This paper reports on the care and health related quality of life (HRQOL) of genetically female (46, XX) patients with 21-hydroxylase deficiency (21-OHD) CAH raised female in Malaysia as compared to age-matched diabetic patients
The mean age was 16.3 ± 4.24 years, with 12, 29 and 18 participants distributed into the age groups of I, II, III, respectively

Summary

Introduction

This study investigates the health-related quality of life (HRQOL) of female patients with congenital adrenal hyperplasia (CAH) in Malaysia. Congenital adrenal hyperplasia (CAH) consists of an enzyme deficiency, in over 90% of cases due to 21hydroxylase deficiency (21-OHD) [1] It is associated with a spectrum of phenotypes, from the classical forms of potentially life-threatening, salt-wasting (SW) and the less severe, simple-virilizing (SV) usually apparent at birth in affected females as genital virilisation. There are a range of psychological, psychosexual and fertility issues confronting these women [3,4,5,6,7] In developing nations, these patients face additional challenges of poverty, ignorance, poor basic medical knowledge, lack of psychological services and poor access to healthcare [3, 8,9,10,11]

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Conclusion