Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital

Congenital Adrenal Hyperplasia in Children: A Pilot Study of Steroid Hormones Expressed as Sex- and Age-Related Standard Deviation Scores

Research output: Contribution to journalJournal articleResearchpeer-review


  1. Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. GHD Diagnostics in Europe and the US: An Audit of National Guidelines and Practice

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. A Brief Review of the Link between Environment and Male Reproductive Health: Lessons from Studies of Testicular Germ Cell Cancer

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

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.

Original languageEnglish
JournalHormone research in paediatrics
Issue number4
Pages (from-to)226-238
Number of pages13
Publication statusPublished - 5 Oct 2020

ID: 61709966