Engels M, et al. - An analysis was performed to determine gonadal function in men with Congenital Adrenal Hyperplasia (CAH) within the European "dsd-LIFE" cohort. A high risk of developing hypothalamic-pituitary-gonadal disturbances and spermatogenic abnormalities was noted in men with CAH. The researchers recommended regular assessment of endocrine gonadal function and imaging for testicular adrenal rest tumor (TART) development, in addition to measures for fertility protection.

Methods

• The researchers designed this cross-sectional clinical outcome study, including retrospective data from medical records.
• Data was extracted from 14 academic hospitals which included 121 men with CAH aged 16-68 years.
• Serum hormone concentrations, semen parameters, and imaging data of the testes were the main outcome measures.

Results

• In this study, 14/69 patients had a serum testosterone concentration below the reference range at the time of assessment; 7 of those were hypogonadotropic, 6 normogonadotropic, and 1 hypergonadotropic.
• On the other hand, 4 patients were hypogonadotropic, 44 normogonadotropic, and 7 hypergonadotropic among the patients with normal serum testosterone (55/69).
• Compared to the association between serum androstenedione/testosterone ratio≥1 and reduced gonadotropin concentrations (OR=39.3 [2.1-732.4]), the association of decreased testosterone with reduced gonadotropin concentrations (Odds Ratio (OR)=12.8 [2.9-57.3]) was weaker.
• Evaluation of sperm quality showed decreased sperm concentrations (15/39), motility (13/37), and abnormal morphology (4/28).
• The researchers found TARTs 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.
• As per the outcomes, 43 children were fathered by 26/113 patients.