Gonadal Function in Adult Male Patients with Congenital Adrenal Hyperplasia

Manon Engels, Katharina Gehrmann, Henrik Falhammar, Emma A Webb, Anna Nordenstrom, Fred Sweep, Paul N Span, Antonius Eduard van Herwaarden, Julia Rohayem, Annette Richter-Unruh, Claire Bouvattier, Birgit Koehler, Barbara B Kortmann, Wiebke Arlt, Nel Roeleveld, Nicole Reisch, Nike Stikkelbroeck, Hedi L Claahsen-van der Grinten

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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 7hypergonadotropic. 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.

Original languageEnglish
JournalEuropean Journal of Endocrinology
Early online date16 Jan 2018
Publication statusE-pub ahead of print - 16 Jan 2018


  • Journal Article


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