title: The urinary steroidome of treated children with classic 21-hydroxylase deficiency.
abstract: Monitoring treatment of children with classic congenital adrenal hyperplasia (CAH) is difficult and biochemical targets are not well defined. We retrospectively analysed 576 daily urinary steroid hormone metabolite profiles determined by gas chromatography-mass spectrometry of 150 children aged 3.0-17.9 years with classic 21-hydroxylase deficiency (21-OHD) on hydrocortisone and fludrocortisone treatment. Daily urinary excretion of glucocorticoid-, 17α-hydroxyprogesterone (17-OHP)-, and androgen metabolites as well as growth and weight gain are presented. Children with classic CAH exhibited increased height velocity during prepubertal age, which was then followed by diminished growth velocity during pubertal age until final height was reached. Final height was clearly below the population mean. 11β-Hydroxyandrosterone was the dominant urinary adrenal-derived androgen metabolite in CAH children. Adrenarche is blunted in children with CAH under hydrocortisone treatment and androgen metabolites except 11β-hydroxyandrosterone were suppressed. Cortisol metabolite excretion reflected supraphysiological hydrocortisone treatment dosage, which resulted in higher body-mass-indices in children with CAH. Reference values of daily urinary steroid metabolite excretions of treated children with CAH allow the clinician to adequately classify the individual patient regarding the androgen-, 17-OHP-, and glucocorticoid status in the context of the underlying disorder. Additionally, urinary 21-OHD-specific reference ranges will be important for research studies in children with CAH.
authors.affiliation: Steroid Research & Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany.
authors.forename: Clemens
authors.initials: C
authors.lastname: Kamrath
authors.affiliation: Steroid Research & Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany.
authors.forename: Lisa
authors.initials: L
authors.lastname: Wettstaedt
authors.affiliation: Steroid Research & Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany.
authors.forename: Claudia
authors.initials: C
authors.lastname: Boettcher
authors.affiliation: Steroid Research & Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany.
authors.forename: Michaela F
authors.initials: MF
authors.lastname: Hartmann
authors.affiliation: Steroid Research & Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany. Electronic address: stefan.wudy@uni-giessen.de.
authors.forename: Stefan A
authors.initials: SA
authors.lastname: Wudy
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000652:urine*; D050499:Adrenarche / Q000378:metabolism / Q000652:urine; D000728:Androgens / Q000378:metabolism / Q000652:urine; D000738:Androsterone / Q000031:analogs & derivatives / Q000378:metabolism / Q000652:urine; D001827:Body Height; D001835:Body Weight; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D005438:Fludrocortisone / Q000378:metabolism / Q000627:therapeutic use; D008401:Gas Chromatography-Mass Spectrometry; D005938:Glucocorticoids / Q000378:metabolism / Q000652:urine; D006801:Humans; D006854:Hydrocortisone / Q000378:metabolism / Q000627:therapeutic use / Q000652:urine; D008297:Male; D012016:Reference Values; D012189:Retrospective Studies; D013255:Steroid 21-Hydroxylase / Q000652:urine; D013256:Steroids / Q000652:urine*; D016482:Urinalysis / Q000379:methods*
chemical_list: D000728:Androgens; D005938:Glucocorticoids; D013256:Steroids; C002528:11 beta-hydroxyandrosterone; D000738:Androsterone; D013255:Steroid 21-Hydroxylase; D005438:Fludrocortisone; D006854:Hydrocortisone
keywords: 21-Hydroxylase deficiency; CAH; Congenital adrenal hyperplasia; Steroid; Urine