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Multicenter Study
. 2022 Sep 16;187(4):543-553.
doi: 10.1530/EJE-21-1109. Print 2022 Oct 1.

Health status of children and young persons with congenital adrenal hyperplasia in the UK (CAH-UK): a cross-sectional multi-centre study

Irina Bacila  1 , Neil Richard Lawrence  1 , Sundus Mahdi  1 , Sabah Alvi  2 , Timothy D Cheetham  3 , Elizabeth Crowne  4 , Urmi Das  5 , Mehul Tulsidas Dattani  6 , Justin H Davies  7   8 , Evelien Gevers  9 , Ruth E Krone  10 , Andreas Kyriakou  11 , Leena Patel  12 , Tabitha Randell  13 , Fiona J Ryan  14 , Brian Keevil  15 , S Faisal Ahmed  11 , Nils P Krone  1
Affiliations
Multicenter Study

Health status of children and young persons with congenital adrenal hyperplasia in the UK (CAH-UK): a cross-sectional multi-centre study

Irina Bacila et al. Eur J Endocrinol. .

Abstract

Objective: There is limited knowledge on the onset of comorbidities in congenital adrenal hyperplasia (CAH) during childhood. We aimed to establish the health status of children with CAH in the UK.

Design and methods: This cross-sectional multicentre study involved 14 tertiary endocrine UK units, recruiting 101 patients aged 8-18 years with classic 21-hydroxylase deficiency and 83 controls. We analysed demographic, clinical and metabolic data, as well as psychological questionnaires (Strengths and Difficulties (SDQ), Paediatric Quality of Life (PedsQL)).

Results: Patient height SDS in relation to mid-parental height decreased with age, indicating the discrepancy between height achieved and genetic potential height. Bone age was advanced in 40.5% patients, with a mean difference from the chronological age of 1.8 (±2.3) years. Patients were more frequently overweight (27%) or obese (22%) compared to controls (10.8% and 10.8%, respectively, P < 0.001). No consistent relationship between glucocorticoid dose and anthropometric measurements or hormonal biomarkers was detected. A small number of patients had raised total cholesterol (3.0%), low HDL (3.0%), raised LDL (7.0%) and triglycerides (5.0%). SDQ scores were within the 'high' and 'very high' categories of concern for 16.3% of patients. 'School functioning' was the lowest PedsQL scoring dimension with a median (interquartile range) of 70 (55-80), followed by 'emotional functioning' with a median of 75 (65-85).

Conclusions: Our results show an increased prevalence of problems with growth and weight gain in CAH children and suggest reduced quality of life. This highlights the urgent need to optimise management and monitoring strategies to improve long-term health outcomes.

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Figures

Figure 1
Figure 1
Times of administration of hydrocortisone doses for children on three daily doses (A, n  = 61) and children on four daily doses regimes (B, n  = 28). Each bar represents the number of patient visits recording a dose given at that time; the different patterns correspond to the order of the doses throughout the day.
Figure 2
Figure 2
Daily glucocorticoid doses for sex (A) and age (B) groups, as well as subgroups of age and sex (C). The shaded area corresponds to the recommended glucocorticoid dose range of 10–15 mg/m2/day hydrocortisone equivalent (2). Daily mineralocorticoid doses for sex (D) and age (E) groups, expressed as fludrocortisone µg/m2/day. The horizontal lines correspond to the median, 25th and 75th quartiles (*indicates statistical significance).
Figure 3
Figure 3
(A) Concentration of serum 17-hydroxyprogesterone in CAH patients for sex and age groups. The shaded areas correspond to the recommended range for hormone concentrations in CAH (12). (B) Concentration of serum androstenedione (A4) in gender groups; the grey ribbons represent the 95% CI of the linear regression of the normal serum A4 ranges with age (13).
Figure 4
Figure 4
Anthropometric characteristics in patients with CAH. Linear regression showing the relationship between delta height SDS (difference between height SDS and mid-parental height SDS in patients with CAH).
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