Reduced serum concentrations of biomarkers reflecting leydig and sertoli cell function in male patients with congenital adrenal hyperplasia
Open accessAbstract
Congenital adrenal hyperplasia (CAH) is a recessive condition that affects the adrenal glands. Despite life-long replacement therapy with glucocorticoids and mineralocorticoids, adult patients with CAH often experience impaired gonadal function. In pubertal boys and in men with CAH, circulating testosterone is produced by the adrenal glands as well as the testicular, steroidogenic cells. In this European two-center study, we evaluated the function of Leydig and Sertoli cells in 61 boys and men with CAH, primarily due to 21-hydroxylase deficiency. Despite conventional hormone replacement therapy, our results indicated a significant reduction in serum concentrations of both Leydig cell-derived hormones (i.e. insulin-like factor 3 (INSL3) and testosterone) and Sertoli cell-derived hormones (i.e. inhibin B and anti-Müllerian hormone) in adult males with CAH. Serum concentrations of INSL3 were particularly reduced in those with testicular adrenal rest tumors. To our knowledge, this is the first study to evaluate circulating INSL3 as a candidate biomarker to monitor Leydig cell function in patients with CAH.
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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 [38]
The Hormone assays section (page unavailable) reports LC–MS/MS measurement of four steroids in male patients with CAH. It does not say that comprehensive panels obtained in single runs are ideal for recognizing disorder patterns, and it does not address PCOS. (LLM, conf=0.82)
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- Authors
- Johannsen, T. H., Albrethsen, J., Neocleous, V., Baronio, F., Cools, M., Aksglaede, L., Jørgensen, N., Christiansen, P., Toumba, M., Fanis, P., Ljubicic, M. L., & Juul, A.
- Affiliations
- University of Copenhagen (DK)
- Cyprus Institute of Neurology and Genetics (CY)
- IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola (IT)
- Ghent University Hospital (BE)
- Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
- Aretaeio Hospital (GR)
- Corresponding author
- Albrethsen, Jakob
- ORCID
- Venue
- Endocrine Connections
- Publisher
- Bioscientifica
- Published
- 2023-05-31
- Volume
- 12
- Issue
- 8
- ISSN
- 2049-3614 (ISSN-L)
- PMC
- PMC10388656
- OpenAlex
- W4378783283
- Cited by
- 9
- References
- 40
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 4
- FWCI
- 0.80
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Endocrine Connections (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, cc-by)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- European Commission
- Vlaamse regering
- Third Health Programme
- 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
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Keywords
- congenital adrenal hyperplasia, 21-hydroxylase deficiency, Leydig cell function, Sertoli cell function, insulin-like factor 3, testosterone, inhibin B, anti-Müllerian hormone, testicular adrenal rest tumor, gonadal function, biomarkers, hormone replacement therapy
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