Gonadal function in adult male patients with congenital adrenal hyperplasia
Open accessAbstract
Context: Current knowledge on gonadal function in congenital adrenal hyperplasia (CAH) is mostly limited to single-center/country studies enrolling small patient numbers. Overall data indicate that gonadal function can be compromised in men with CAH. Objective: To determine gonadal function in men with CAH within the European ‘dsd-LIFE’ cohort. Design: Cross-sectional clinical outcome study, including retrospective data from medical records. Methods: Fourteen academic hospitals included 121 men with CAH aged 16–68 years. Main outcome measures were serum hormone concentrations, semen parameters and imaging data of the testes. Results: At the time of assessment, 14/69 patients had a serum testosterone concentration below the reference range; 7 of those were hypogonadotropic, 6 normogonadotropic and 1 hypergonadotropic. In contrast, among the patients with normal serum testosterone (55/69), 4 were hypogonadotropic, 44 normogonadotropic and 7 hypergonadotropic. The association of decreased testosterone with reduced gonadotropin concentrations (odds ratio (OR) = 12.8 (2.9–57.3)) was weaker than the association between serum androstenedione/testosterone ratio ≥1 and reduced gonadotropin concentrations (OR = 39.3 (2.1–732.4)). Evaluation of sperm quality revealed decreased sperm concentrations (15/39), motility (13/37) and abnormal morphology (4/28). Testicular adrenal rest tumor (TART)s were present in 39/80 patients, with a higher prevalence in patients with the most severe genotype (14/18) and in patients with increased current 17-hydroxyprogesterone 20/35) or androstenedione (12/18) serum concentrations. Forty-three children were fathered by 26/113 patients. Conclusions: Men with CAH have a high risk of developing hypothalamic-pituitary-gonadal disturbances and spermatogenic abnormalities. Regular assessment of endocrine gonadal function and imaging for TART development are recommended, in addition to measures for fertility protection.
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Spironolactone, flutamide and finasteride can be used to treat hirsutism, acne and androgenic alopecia but are teratogenic and not approved for this use.
“Spironolactone, flutamide and finasteride can be used to treat hirsutism (433), acne and androgenic alopecia (436) but are teratogenic and not approved for this use.”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [436]
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References 40 · Cited by 69
- Authors
- Engels, M., Gehrmann, K., Falhammar, H., Webb, E. A., Nordenström, A., Sweep, F. C., Span, P. N., van Herwaarden, A. E., Rohayem, J., Richter-Unruh, A., Bouvattier, C., Köhler, B., Kortmann, B. B., Arlt, W., Roeleveld, N., Reisch, N., Stikkelbroeck, N. M. M. L., Claahsen-van der Grinten, H. L., _, _., _, _., Cohen-Kettenis, P., de Vries, A., Wiesemann, C., Slowikowska-Hilczer, J., Brac de la Perriere, A., Sultan, C., Paris, F., Thyen, U., Pienkowski, C., & Szarras-Czapnik, M.
- Affiliations
- Radboud University Medical Center (NL)
- Humboldt-Universität zu Berlin (DE)
- Karolinska University Hospital (SE)
- University of Birmingham (GB)
- 2Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, the Netherlands
- University Hospital Münster (DE)
- Université Paris-Sud (FR)
- LMU Klinikum (DE)
- 1Department of Pediatrics, Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, the Netherlands
- ORCID
- Venue
- European Journal of Endocrinology
- Publisher
- Oxford University Press (OUP)
- Published
- 2018-03
- Volume
- 178
- Issue
- 3
- Pages
- 285-294
- ISSN
- 0804-4643 (ISSN-L)
- 1479-683X
- OpenAlex
- W2783605312
- Cited by
- 69
- References
- 40
- Citations by year
- 2026: 6 · 2025: 4 · 2024: 4 · 2023: 16 · 2022: 10 · 2021: 10 · 2020: 4 · 2019: 8 · 2018: 6
- FWCI
- 2.49
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- European Journal of Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- University of Birmingham Research Portal (University of Birmingham) (publishedVersion, other-oa)
- Radboud Repository (Radboud University) (submittedVersion)
- Spiral (Imperial College London) (submittedVersion)
- 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 › Endocrinology, Diabetes and Metabolism › Hormonal and reproductive studies
- Keywords
- congenital adrenal hyperplasia, androgen deficiency, hypogonadism, gonadotropins, semen quality, testicular adrenal rest tumor, fertility, 17-hydroxyprogesterone, genotype severity
- MeSH terms
- Adolescent, Adrenal Hyperplasia, Congenital, Adrenal Rest Tumor, Adult, Aged, Androstenedione, Cross-Sectional Studies, Europe, Gonadotropins, Humans, Hydroxyprogesterones, Hypogonadism, Male, Middle Aged, Oligospermia, Sperm Count, Sperm Motility, Testicular Neoplasms, Testosterone, Prevalence, Odds Ratio, Semen Analysis, Young Adult
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