ESPE Abstracts

Introduction: Steroid profiling in children with congenital adrenal hyperplasia (CAH) is used to monitor the balance between androgen and cortisol metabolites and to decide on the optimal glucocorticoid dosage. Twenty-four hour collection is the gold standard for measurement of steroid metabolites in urine, because steroid production follows a circadian rhythm and is influenced by short-term stress and steroid drugs. For some children, e.g. those who were diapers, it is not feasible to collect urine over 24h non-invasively, and urine spot steroid assessments might still be an alternative in CAH.

Objective: To investigate whether steroid metabolites in 24h urine collections correlate with those determined in urine spot samples in children with CAH.

Methods: We collected 24h urine and urine spots from children and adolescents with CAH due to 21-hydroxylase deficiency and analysed 40 steroid metabolites using GC-MS (see Table). To assess the strength of correlations between 24h and spot urine metabolites, we calculated Kendall’s tau-beta separate for morning and non-morning urine. We set the level to α=0.005 to account for multiple testing.

Results: Thirty patients provided both 24h collections and spot urine samples (n = 20 morning, n = 10 non-morning). Out of the 40 metabolites, there was a strong correlation between 24h and morning spot urine for 17 metabolites, and between 24h and non-morning spot urine for 9 metabolites (tau>0.45, P < 0.005). Specifically, correlations were noted for progesterones, corticosterones, tetrahydroaldosterone, androgens, estriol, tetrahydro-11-deoxycortisol, but not for the cortisol metabolites (Table).

Conclusions: Urinary steroid profiling in children with CAH revealed correlations between 24h urine specimens and spot urines. Spot urine might suffice to recognize the specific pattern of 21-hydroxylase deficiency for diagnostics (e.g. through marker metabolites 11-oxo-pregnanetriol, TH-11-deoxycortisol). Whether a spot urine can inform about metabolic control of treatment in CAH needs to be further tested in a larger number of specimens.