Congenital adrenal hyperplasia in children: a pilot study of steroid hormones expressed as sex- and age-related standard deviation scores
Open accessAbstract
INTRODUCTION: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease predominantly caused by 21-hydroxylase deficiency. Clinical management in children includes glucocorticoid and often mineralocorticoid treatment alongside monitoring outcomes such as an-thro-po-metry, pubertal status, blood pressure, and biochemistry. OBJECTIVE: The objective of this pilot study was to present the use of 17-hydroxyprogesterone (17-OHP) and androgen metabolites expressed as standard deviation (SD) scores rather than actual concentrations as a tool in the management of children with CAH as well as in research settings. METHODS: The study was a retrospective, longitudinal study that took place in a single, tertiary center and included 38 children and adolescents aged 3-18 years with CAH due to 21-hydroxylase deficiency. Biochemical measurements of 17-OHP, androstenedione, dehydroepiandrosterone-sulphate (DHEAS), and testosterone using liquid chromatography-tandem mass spectrometry were expressed as SD scores, and outcomes such as genotype, height, bone maturation, blood pressure, and treatment doses were extracted from patient files. RESULTS: The majority (86%) of CAH patients had 17-OHP measurements above +2 SD during standard hydrocortisone therapy, receiving an average daily hydrocortisone dose of 12.6 mg/m2. Androstenedione concentrations were mostly within ±2 SD, whereas DHEAS values were below -2 SD in 47% of patients. CONCLUSIONS: Applying sex- and age-related SD scores to 17-OHP and androgen metabolite concentrations allows for monitoring of hydrocortisone treatment independent of age, sex, assay, and center. We propose that 17-OHP and androgen metabolites expressed as SD scores be implemented as a unifying tool that simplifies research and, in the future, also optimal management of treatment.
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Methods allowing measurement of comprehensive steroid panels comprising multiple steroid metabolites obtained by single runs are ideal for recognizing patterns of steroid disorders such as CAH or PCOS.
“Methods allowing the measurement of comprehensive steroid panels comprising multiple steroid metabolites obtained by single runs are ideal for recognizing patterns of steroid disorders such as CAH or PCOS [33,37,38].”
From Sex- and age-specific reference intervals of 16 steroid metabolites quantified simultaneously by LC-MS/MS in sera from 2458 healthy subjects aged 0 to 77 years (2024) · cites this paper as [37]
The Introduction (page not specified in our copy) says LC-MS/MS can simultaneously measure ten steroid metabolites, and the study applies hormone measurements to children with CAH. The paper discusses biochemical monitoring of CAH, not using a panel to recognize steroid-disorder patterns, and it does not address PCOS. (LLM, conf=0.85)
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- Authors
- Clausen, C. S., Ljubicic, M. L., Main, K. M., Andersson, A.-M., Petersen, J. H., Frederiksen, H., Duno, M., Johannsen, T. H., & Juul, A.
- Affiliations
- University of Copenhagen (DK)
- ORCID
- Venue
- Hormone Research in Paediatrics
- Publisher
- S. Karger AG
- Published
- 2020
- Volume
- 93
- Issue
- 4
- Pages
- 226-238
- ISSN
- 1663-2818 (ISSN-L)
- 1663-2826
- OpenAlex
- W3089709654
- Cited by
- 7
- References
- 22
- Citations by year
- 2024: 1 · 2023: 1 · 2022: 2 · 2021: 3
- FWCI
- 0.49
- Type
- journal article
- Language
- en
- Update notices
- erratum (2020-10-05)
- Open access
- bronze
- doi.org
- Locations
- Hormone Research in Paediatrics (publishedVersion)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- congenital adrenal hyperplasia, 21-hydroxylase deficiency, 17-hydroxyprogesterone, standard deviation scores, androgen metabolites, androstenedione, dehydroepiandrosterone sulfate, testosterone, hydrocortisone therapy, treatment monitoring, children and adolescents
- MeSH terms
- Adolescent, Adrenal Hyperplasia, Congenital, Androstenedione, Child, Child, Preschool, Female, Humans, Hydrocortisone, Longitudinal Studies, Male, Pilot Projects, Retrospective Studies
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