Steroid hormone analysis in diagnosis and treatment of DSD: Position paper of Eu COST Action BM 1303 “DSDnet”
Open accessAbstract
Disorders or differences in sex development (DSD) comprise a heterogeneous group of conditions with an atypical sex development. For optimal diagnosis, highly specialised laboratory analyses are required across European countries. Working group 3 of EU COST (European Cooperation in Science and Technology) Action BM 1303 'DSDnet' 'Harmonisation of Laboratory Assessment' has developed recommendations on laboratory assessment for DSD regarding the use of technologies and analytes to be investigated. This position paper on steroid hormone analysis in diagnosis and treatment of DSD was compiled by a group of specialists in DSD and/or hormonal analysis, either from participating European countries or international partner countries. The topics discussed comprised analytical methods (immunoassay/mass spectrometry-based methods), matrices (urine/serum/saliva) and harmonisation of laboratory tests. The following positions were agreed upon: support of the appropriate use of immunoassay- and mass spectrometry-based methods for diagnosis and monitoring of DSD. Serum/plasma and urine are established matrices for analysis. Laboratories performing analyses for DSD need to operate within a quality framework and actively engage in harmonisation processes so that results and their interpretation are the same irrespective of the laboratory they are performed in. Participation in activities of peer comparison such as sample exchange or when available subscribing to a relevant external quality assurance program should be achieved. The ultimate aim of the guidelines is the implementation of clinical standards for diagnosis and appropriate treatment of DSD to achieve the best outcome for patients, no matter where patients are investigated or managed.
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Steroids can be measured in blood, urine, saliva and dried filter-paper blood samples and fluctuate with both the circadian rhythm and the timing of glucocorticoid intake.
“Steroids can be measured in blood, urine (268,305), saliva (388) and dried filter-paper blood samples (389,390) and fluctuate with both the circadian rhythm and the timing of glucocorticoid intake (298,391-393).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [305]
The Analytical matrices section (page not provided) identifies blood, urine and saliva as matrices for steroid analysis, while noting that saliva is less established. Our copy does not support the dried filter-paper blood sample claim or the stated fluctuations with circadian rhythm and timing of glucocorticoid intake; its Challenges of clinical steroid analysis section mentions only that exogenous steroids can influence steroid metabolism. (LLM, conf=0.85)
Experimental — accuracy not yet measuredAge- and sex-specific normative values of steroid metabolite concentrations are essential to define abnormalities.
“Age- and sex-specific normative values of steroid metabolite concen trations are essential to define abnormalities [36].”
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- Authors
- Kulle, A., Krone, N., Holterhus, P. M., Schuler, G., Greaves, R. F., Juul, A., de Rijke, Y. B., Hartmann, M. F., Saba, A., Hiort, O., Wudy, S. A., & _, _.
- Affiliations
- Christian-Albrechts-Universität zu Kiel (DE)
- University of Sheffield (GB)
- Justus-Liebig-Universität Gießen (DE)
- RMIT University (AU)
- University of Copenhagen (DK)
- University of Pisa (IT)
- University of Lübeck (DE)
- Corresponding author
- Wudy, S A
- Venue
- European Journal of Endocrinology
- Publisher
- Oxford University Press (OUP)
- Published
- 2017-05
- Volume
- 176
- Issue
- 5
- Pages
- P1-P9
- ISSN
- 0804-4643 (ISSN-L)
- 1479-683X
- PMC
- PMC5425933
- OpenAlex
- W2587480381
- Cited by
- 111
- References
- 53
- Citations by year
- 2026: 3 · 2025: 8 · 2024: 10 · 2023: 10 · 2022: 9 · 2021: 14 · 2020: 13 · 2019: 16 · 2018: 18 · 2017: 6 · 2016: 2
- FWCI
- 5.92
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- European Journal of Endocrinology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- White Rose Research Online (University of Leeds, The University of Sheffield, University of York) (acceptedVersion)
- Minerva Access (University of Melbourne) (submittedVersion, cc-by)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- RMIT Research Repository (RMIT University Library) (submittedVersion)
- CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion, cc-by)
- Figshare (submittedVersion, cc-by)
- 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 › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- disorders of sex development, steroid hormone analysis, immunoassay, mass spectrometry, serum and urine samples, saliva, external quality assurance
- MeSH terms
- Europe, Female, Hormones, Humans, Male, Disorders of Sex Development, Steroids, 46, XX Disorders of Sex Development, 46, XX Testicular Disorders of Sex Development
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