Quality of life in children diagnosed with non-classic congenital adrenal hyperplasia

Abstract Background The present study was designed to evaluate the metabolic profile, cardiovascular risk factors and quality of life in children with congenital adrenal hyperplasia (CAH) and compare it with age- and sex-matched controls. Methods Fifty-two patients aged 3–21 years with classic CAH due to 21-hydroxylase deficiency were included in the study. Metabolic profiling was done for 36 cases and compared with 28 healthy age- and sex-matched controls. Quality of life was assessed in all 52 children and their parents using a validated Pediatric Quality of Life Inventory (PedsQL) questionnaire and was compared with normative data from the same population. Results The median age was 12 years with 14 (27%) males and 38 (73%) females. Out of the total 52 patients, 35 (67%) had salt wasting and 17 (33%) had simple virilising CAH. The median height standard deviation score (SDS) of cases was similar to that of controls (−0.72 vs. −0.64, p = 0.57) and 81% of females had normal pubertal status indicating a good control of the disease. Weight SDS, body mass index (BMI) SDS, mean diastolic blood pressure and insulin resistance were significantly higher in cases when compared to controls (0.31 vs. −0.3; 0.96 vs. 0.17; 67.8 ± 10.49 vs. 61 ± 8.49 and 2.1 vs. 0.95, respectively). The quality of life was significantly reduced in all domains as per parents’ perspective, whereas the children reported reduced quality of social and school functioning. There was no significant correlation between quality of life and metabolic parameters. Conclusions Children with CAH despite a reasonably good control of the disease have a higher cardiovascular risk and reduced quality of life when compared to healthy controls.

Download Full-text

Partnership and sexuality in adult female patients with congenital adrenal hyperplasia. First results of a cross-sectional quality-of-life evaluation

The Journal of Steroid Biochemistry and Molecular Biology ◽

10.1016/0960-0760(93)90131-f ◽

1993 ◽

Vol 45 (1-3) ◽

pp. 123-126 ◽

Cited By ~ 43

Author(s):

U. Kuhnle ◽

M. Bullinger ◽

H.P. Schwarz ◽

D. Knorr

Keyword(s):

Quality Of Life ◽

Congenital Adrenal Hyperplasia ◽

Adult Female ◽

Adrenal Hyperplasia ◽

Cross Sectional ◽

Female Patients ◽

Life Evaluation ◽

First Results

Download Full-text

Assessment of health-related quality of life in Egyptian children and adolescents with congenital adrenal hyperplasia

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2019-0345 ◽

2020 ◽

Vol 33 (2) ◽

pp. 295-304

Author(s):

Noha Musa ◽

Noha Asem ◽

Shaza Basyony ◽

Lubna Fawaz

Keyword(s):

Quality Of Life ◽

Congenital Adrenal Hyperplasia ◽

Children And Adolescents ◽

Hospital Admissions ◽

Hormonal Control ◽

Physical Domain ◽

Adrenal Hyperplasia ◽

Egyptian Children ◽

Health Related

AbstractBackgroundCongenital adrenal hyperplasia (CAH) is a chronic disorder causing adrenal insufficiency and hyperandrogenism affecting the quality of life (QOL). The objective of the study was to assess the health-related QOL (HRQOL) in Egyptian children and adolescents with CAH and to identify factors affecting it.MethodsThis cross-sectional study included 200 CAH patients (with 21-hydroxylase deficiency [21-OHD]) who were assessed according to their age, sex, clinical phenotype, timing of genitoplasty, hospital admissions within the last year, compliance to treatment, regularity of follow-up, presence of complications and hormonal control. HRQOL was assessed using the World Health Organization (WHO)QOL-BREF questionnaire with four domains analyzed independently including physical, psychological, social and environmental domains, with higher scores indicating better QOL.ResultsThe study included 140 females and 60 males with a mean age of 6.6 ± 4.5 years, and 88% were salt-wasting (SW). Older patients had significantly lower QOL scores (r = − 0.151, p = 0.033). The physical domain correlated significantly with the degree of virilization (r = − 0.491, p = 0.001) and frequency of hospitalization (r = − 0.495, p < 0.001). The psychological domain was affected by age (r = − 0.157, p = 0.026) and timing of genitoplasty (r = − 0.326, p = 0.001), while the social domain was affected by age (r = −0.277, p < 0.005) and pubertal stage (r = − 0.195, p = 0.006). Females had lower scores at the psychological domain (p < 0.001), whereas males had lower scores at the physical domain (p = 0.003). Salt-losing patients had lower scores at the physical domain (p = 0.001). Patients with good hormonal control had higher scores at the physical domain (p = 0.03). Genitoplasty affected both psychological and social domains (p = 0.003 and 0.01, respectively). Patients with hypertension and hirsutism had lower QOL scores (p < 0.05).ConclusionsHRQOL was relatively more affected in CAH patients with older age, poor hormonal control, high frequency of hospital admissions and those who developed complications.

Download Full-text

Impact of transition on quality of life in patients with congenital adrenal hyperplasia diagnosed during childhood

Endocrine Connections ◽

10.1530/ec-17-0094 ◽

2017 ◽

Vol 6 (7) ◽

pp. 422-429 ◽

Cited By ~ 6

Author(s):

Anne Bachelot ◽

Magaly Vialon ◽

Amandine Baptiste ◽

Isabelle Tejedor ◽

Caroline Elie ◽

...

Keyword(s):

Quality Of Life ◽

Congenital Adrenal Hyperplasia ◽

Psychological Health ◽

Adult Patients ◽

Adrenal Hyperplasia ◽

Adult Care ◽

Related Quality ◽

The Impact

Background Health-related quality of life (QoL) in adult patients with congenital adrenal hyperplasia (CAH) has been variously reported. However, there is no study evaluating the impact of transition on quality of life. Methods Adult patients with classic or non-classic CAH diagnosed during childhood CAH, born between 1970 and 1990, were recruited from the registers of Pediatric departments belonging to the French reference center for endocrine rare disease. Primary end point was the QoL (WHOQOL-BREF). Results Seventy-three patients were included in the study, among them 59/73 were transferred to adult endocrinologist by their pediatricians for transition. WHOQOL-BREF scores were similar between patients with or without transition to specialist adult services, except for environment dimension score, which was slightly higher in CAH patients without transition. However, CAH patients with a regular follow-up had a better physical health, psychological health and environment score and item global QoL than the group without regular follow-up after transition. Conclusion Regular medical follow-up in adulthood is associated with the transition between pediatric and adult care and is associated with better QoL in adults with CAH.

Download Full-text