Gonadal function in adult male patients with congenital adrenal hyperplasia
Author(s)
Type
Journal Article
Abstract
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.
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.
Date Issued
2018-03-01
Date Acceptance
2018-01-15
Citation
European Journal of Endocrinology (EJE), 2018, 178 (3), pp.285-294
ISSN
0804-4643
Publisher
Oxford University Press
Start Page
285
End Page
294
Journal / Book Title
European Journal of Endocrinology (EJE)
Volume
178
Issue
3
Copyright Statement
© 2018 European Society of Endocrinology.
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/29339528
PII: EJE-17-0862
Subjects
21-HYDROXYLASE DEFICIENCY
ADOLESCENT
ANDROGENS
CHILDREN
Endocrinology & Metabolism
FERTILITY
HIGH PREVALENCE
Life Sciences & Biomedicine
MEN
OUTCOMES
REFERENCE VALUES
REST TUMORS
Science & Technology
Publication Status
Published
Coverage Spatial
England
Date Publish Online
2018-03-01