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The urinary steroidome of treated children with classic 21-hydroxylase deficiency

Clemens Kamrath1, Lisa Wettstaedt1, Claudia Boettcher1

  • 1Steroid 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.

The Journal of Steroid Biochemistry and Molecular Biology
|August 22, 2016
PubMed

Insights

Monitoring classic congenital adrenal hyperplasia (CAH) in children is challenging. This study establishes urinary steroid metabolite reference ranges for treated 21-hydroxylase deficiency (21-OHD) patients, aiding clinical assessment and research.

Area of Science:

  • Pediatric Endocrinology
  • Metabolomics
  • Genetics

Background:

  • Classic congenital adrenal hyperplasia (CAH) management requires defined biochemical targets for effective treatment monitoring.
  • Current monitoring strategies for children with CAH present significant challenges for clinicians.
  • Established reference values for urinary steroid metabolites in treated pediatric CAH patients are lacking.

Purpose of the Study:

  • To establish reference values for daily urinary steroid hormone metabolite excretion in children with classic 21-hydroxylase deficiency (21-OHD) undergoing treatment.
  • To analyze growth and weight gain patterns in relation to treatment in pediatric CAH patients.
  • To provide clinicians with tools for better classification of androgen, 17-hydroxyprogesterone (17-OHP), and glucocorticoid status.

Main Methods:

  • Retrospective analysis of 576 daily urinary steroid hormone metabolite profiles.
  • Gas chromatography-mass spectrometry (GC-MS) used for metabolite profiling.
  • Study included 150 children aged 3.0-17.9 years with classic 21-OHD on hydrocortisone and fludrocortisone treatment.

Main Results:

  • Children with classic CAH showed increased prepubertal height velocity followed by diminished pubertal growth, resulting in below-average final height.
  • 11β-Hydroxyandrosterone was the predominant urinary androgen metabolite in CAH children; other androgens were suppressed under treatment.
  • Glucocorticoid metabolites indicated supraphysiological hydrocortisone dosing, correlating with higher body-mass indices in treated children.

Conclusions:

  • Established reference ranges for urinary steroid metabolites in treated pediatric CAH patients can aid clinical classification of endocrine status.
  • Urinary 21-OHD-specific reference ranges are crucial for advancing research in pediatric CAH.
  • The findings highlight the need for precise monitoring to optimize growth and metabolic control in children with CAH.

Keywords:
21-Hydroxylase deficiencyCAHCongenital adrenal hyperplasiaSteroidUrine

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