Improving monitoring strategies in congenital adrenal hyperplasia
Research type
Research Study
Full title
Implementing improved biochemical monitoring in children and young persons with congenital adrenal hyperplasia
IRAS ID
281361
Contact name
Nils/ NK Krone
Contact email
Sponsor organisation
Sheffield Children's NHS Foundation Trust
Duration of Study in the UK
1 years, 4 months, 31 days
Research summary
Congenital adrenal hyperplasia (CAH) represents a group of inherited conditions characterised by impaired synthesis of steroid hormones in the adrenal glands. Most patients require life-long hormonal replacement treatment with glucocorticoids and mineralocorticoids. Achieving the optimal medication regime is challenging, both over- and under-treatment are common problems in patients with CAH, with negative impact on long-term health outcomes. Monitoring of replacement therapy, a key element in the management of CAH, presently relies mainly on the measurement of 17-hydroxyprogesterone, androstenedione and testosterone in the blood. However, the reliability of these hormones as biomarkers of disease control is limited and their relevance in guiding therapy varies among clinicians. Recent evidence suggests that other steroid hormones may constitute superior markers of disease control, such as the adrenal-specific 11-oxygenated androgens, which have been shown to be the main contributor to androgen excess and 21-deoxycortisol, the most disease specific metabolite for 21-hydroxylase deficiency. Thus, our hypothesis is that monitoring of treatment in CAH can be improved by using a superior combination of biomarkers for disease control. In this study, we will use blood samples collected as part of routine care from children with CAH under follow up in two endocrine centres (Sheffield and Birmingham). The samples are routinely analysed in a biochemistry laboratory in Manchester (Professor Brian Keevil). We will use a small volume of surplus serum to extend the biochemical analysis to other potential markers for monitoring androgen excess (11-oxygenated androgens, 21-deoxycortisol) and mineralocorticoid (fludrocortisone) therapy. We will analyse the relationship between hormone concentrations, treatment and clinical markers of disease control. We believe that this study will significantly benefit patients with CAH by providing novel more comprehensive methods of monitoring treatment that will facilitate a personalised approach to therapy and improve health outcomes.
REC name
South Central - Hampshire B Research Ethics Committee
REC reference
22/SC/0027
Date of REC Opinion
23 Feb 2022
REC opinion
Further Information Favourable Opinion