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Male patients with CAH may also present impaired gonadic function and infertility. It appears that adult males with CAH face a dual problem. Adrenal steroid overproduction, especially androgen and progesterone, might interfere with follicle-stimulating hormone and LH production, resulting in gonadotropic deficiency. In addition, testicular adrenal rest tumors (TARTs) may develop in some CAH patients and impact both endocrine and exocrine testicular functions [33]. TARTs have been identified with a prevalence of 30–95% depending on age and modality of diagnosis, i.e. palpation or ultrasound [34]. The prevalence of TARTs increases with age, after onset of puberty [35, 36]. Some studies report the development of TARTs despite good hormonal control, suggesting that undertreatment is not the only cause for their growth [37, 38]. Indeed, a recent study about the molecular characterization of TARTs has shown that these tumors have multiple steroidogenic properties, including the expression of adrenal cortex and typical Leydig cell markers [39]. Because of their central localization near the rete testis, TARTs can lead to compression of the seminiferous tubules that may finally lead to obstructive azoospermia and irreversible damage of the surrounding testicular tissue [40]. In patients with and without TARTs, inhibin B levels differ significantly, and there are higher total sperm counts and concentrations in patients without TARTs [34]. In a large cohort of male CAH patients, 70% had severe oligospermia or azoospermia when TARTs were found versus only 3.6% when they were not [34]. The profile of the gonadotropic-testicular axis in these patients will primarily show testicular failure and eventually reveal endocrine and exocrine testicular dysfunctions. Treatment options for male patients with TARTs are still limited and mainly based on a good hormonal control with GC [40]. However, in some patients, treatment is poorly tolerated, and the medical response is disappointing. Surgery can be proposed but there are no data on fertility preservation. Prevention has therefore a real important place in the management of male CAH fertility. A systematic ultrasound evaluation is recommended at puberty to detect lesions at an early stage.

Besides these somatic causes of impaired fertility in CAH males, there might be aspects of psychosocial adaptation and sexual well-being. Very few data have been reported on sexual satisfaction in CAH males. Two recent studies have shown that fewer CAH patients than controls had an active sexual life and that they had fewer lifetime partners [41, 42]. In a Swedish cohort, erectile dysfunction was found in about half of these patients [42] as was described in the study from Dudzińska et al. [43]. A sexual well-being study of CAH males has revealed impairments in sexual drive, erections, and ejaculations [43], associated with a reduced sexual drive. However, in the recent Swedish follow-up study described above, although the reason is unknown, men were more often married than controls (OR 1.6, CI 1.0–2.5) but, as the CAH women, they had fewer biological children than controls (OR 0.4, CI 0.2–0.6) [44]. Further studies are needed to properly assess these psychosocial outcomes, in order to improve the care given to the patients.

Therefore, prevention of TART development and progression and a good hormonal control of the disease are a major concern in male CAH patients at the time of the transition. Sexuality has to be considered with the patient. Patients should be informed of CAH disease and a control’s consequences on testicular function and fertility; a semen analysis should also be realized as soon as possible, and the question of systematic sperm cryopreservation seems fully justified [45].