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.
|Journal||European Journal of Endocrinology|
|Early online date||16 Jan 2018|
|Publication status||E-pub ahead of print - 16 Jan 2018|
- Journal Article