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Engels, M.; Gehrmann, K.; Falhammar, H.; Webb, E. A.; Nordenstrom, A.; Sweep, F. C.; Span, P. N.; van Herwaarden, A. E.; Rohayem, J.; Richter-Unruh, A.; Bouvattier, C.; Koehler, B.; Kortmann, B. B.; Arlt, W.; Roeleveld, N.; Reisch, N.; Stikkelbroeck, N. M. M. L.; Claahsen-van der Grinten, H. L. (2018): Gonadal function in adult male patients with congenital adrenal hyperplasia. In: European Journal of Endocrinology, Vol. 178, No. 3: pp. 285-294
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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.