Objective: To evaluate reduced fertility rates and their possible causes in a cohort of well controlled male adult patients with congenital adrenal hyperplasia.
Methods: We clinically assessed 22 male patients with congenital adrenal hyperplasia (15 salt wasting form, 7 simple virilising, age 1849) according to their hormonal control. Further, we performed testicular ultrasound, MRI of the testis and a sperm count of each. As laboratory markers 17-OHP in serum and saliva were determined as well as adrostendione, testosterone, pregnatiol in 24 h urine, LH, FSH, ACTH, renin concentration and estradiol.
Results: All patients had a pathological sperm count with reduced fertility (1 patient with azoospermia, 7 patients with oligospermia, all with pathological sperm morphology and sperm motility). TART prevalence was 14/22 (8 SW, 6 SV), none of those were palpable. Poor therapy control with elevated 17-OHP in serum/saliva and/or pregnantriol in urine could be shown in 4 patients, the other 18, however, were well controlled or even had suppressed adrenal androgen levels. Ten of the well controlled patients had TARTs. Sperm concentration correlated with testicular volume. About 10/22 patients also had reduced Leydig cell function according to low testosterone levels.
Conclusion: TARTs in CAH patients are an underestimated problem and are probably the most important risk factor for reduced fertility rates in male CAH patients. Regular testicular ultrasound from childhood on is required.