How do urine steroid metabolites of spot samples correlate with 24 hour urine specimens in children with congenital adrenal hyperplasia?

Grit Sommer; Ozair Abawi; Michael Groessl; Ulrike Halbsguth; Evangelia Charmandari; Erika L.T. van den Akker; Christa E. Fluck

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ESPE Abstracts (2021) 94 P2-2

ESPE2021 ePoster Category 2 Adrenals and HPA Axis (57 abstracts)

How do urine steroid metabolites of spot samples correlate with 24 hour urine specimens in children with congenital adrenal hyperplasia?

Grit Sommer ^1,2 , Ozair Abawi ³ , Michael Groessl ⁴ , Ulrike Halbsguth ¹ , Evangelia Charmandari ^5,6 , Erika L.T. van den Akker ³ & Christa E. Flück ^1,2

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¹Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; ²Department for BioMedical Research, University of Bern, Bern, Switzerland; ³Department of Pediatrics, Division of Endocrinology, Erasmus MC-Sophia, University Medical Center, Rotterdam, Netherlands; ⁴Department of Nephrology and Hypertension, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; ⁵Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, Athens, Greece; ⁶Division of Endocrinology and Metabolism, Center for Clinical, Experimental Surgery and Translational Research, Biomedical Research Foundation of the Academy of Athens, Athens, Greece

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).

Table Correlations between 24h and spot urine metabolites in children with CAH.
	24h vs morning n = 20	24h vs non-morning n = 10
Progesterones
17-hydroxypregnanolone	+	+
Pregnanediol	+
Pregnanetriol	+	+
11-oxo-pregnanetriol	+	+
Corticosterones
TH-deoxycorticosterone	+
TH-11-DH-corticosterone
TH-corticosterone	+
5α-TH-corticosterone	+	+
TH-Aldosterone	+
Androgens
Androsterone	+	+
Etiocholanolone	+	+
Dihydroandrosterone	+	+
11-oxo-etiocholanolone
11β-OH-androsterone	+	+
11β-OH-etiocholanolone	+
Dehydroepiandrosterone	+
Androstenediol
16α-OH-DHEA
Androstenetriol
Pregnenetriol	+
Testosterone
5α-dihydrotestosterone
Estrogens
Estriol	+
17β-estradiol
TH-11-deoxycortisol	+	+
Cortisols
Cortisone
TH-cortisone
β-cortolone
20α-dihydrocortisone
20β-dihydrocortisone
Cortisol
TH-cortisol
5α-TH-cortisol
α-cortole
β-cortole
20α-dihydrocortisol
20β-dihydrocortisol
6β-OH-cortisol
18-OH-cortisol
α-cortolone
Legend: +, strong correlation (Kendall’s tau >0.45 and P < 0.005); empty cells, correlation not significant.

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.