ESPE Abstracts (2019) 92 P1-301

Height in Infants Aged 1 Year with Classic Congenital Adrenal Hyperplasia is Related to their Urinary Steroid Metabolome

Clemens Kamrath, Clemens Friedrich, Michaela F. Hartmann, Stefan A. Wudy


Justus-Liebig University, Giessen, Germany


Background: Controlling therapy of infants, especially from neonates onwards, with classic congenital adrenal hyperplasia (CAH) is challenging due to the lack of reference values.

Methods: We retrospectively analyzed 158 spot urinary steroid hormone metabolite profiles determined by gas chromatography–mass spectrometry (GC-MS) of 60 infants aged 0–4.2 years with classic 21-hydroxylase deficiency (21-OHD) on hydrocortisone and fludrocortisone treatment.

Results: Infants aged 1 year (N=14) demonstrated a reduction of their height (H-SDS: -1.0 ± 1.7). H-SDS was significant negatively correlated with tetrahydrocortisol (THF) to tetrahydrocortisone (THE) ratio (Rs = -0·70; P < 0·01), demonstrating an impact of the individual metabolisation of hydrocortisone on growth. Additionally, H-SDS was negatively correlated with the ratios of THF-to-pregnanetriole (Rs = -0·64; P = 0·02), THF-to-11-hydroxyandrosterone (Rs = -0·66; P = 0·01), and the ratio of THF-to-summed-androgen-metabolites (androsterone, etiocholoanolone and 11-hydroxyandrosterone) (Rs = -0·71; P < 0·01). Infants with H-SDS < -1 had significant higher ratios than those with an H-SDS > -1. In contrast, the hydrocortisone dosage was not related to H-SDS.

Conclusion: A substantial proportion of infants with CAH were over treated. The urinary steroid hormone metabolite profiles, but not the prescribed hydrocortisone dosage, were related to height in infants with classic CAH. Additionally, the individual metabolisation of hydrocortisone, as shown by the tetrahydrocortisone to tetrahydrocortisol ratio, influences the growth in infants treated with hydrocortisone.

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