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Cohorts of adults with CAH due to 21-OHD from Europe and the USA have been described in recent years [15–17]. They have shown an increased risk for metabolic disorders in adults. Overweight and obesity have been reported in adult patients with CAH [15], but sometimes with a prevalence similar to that found in the general population [16, 17]. Some studies reported normal resting [46] and 24-hour BP profiles [47] and others a slight increase in either diurnal or both diurnal and nocturnal systolic BP, compared to matched controls [15, 48]. Classic CAH children have been shown to have a higher prevalence of elevated systolic BP and an absent physiological nocturnal systolic BP nadir on 24-h ambulatory monitoring [46]. Careful fludrocortisone dosing, assessment of renin or plasma renin activity and accurate BP measurement are indispensable to avoid iatrogenic hypertension in children with CAH. There are minimal data available on the prevalence of hypertension in adult patients with CAH. In a recent epidemiological Swedish registry study, an increased frequency of hypertension in CAH patients has been shown, but when analyzing the different subgroups, only SV females had an increased BP [21]. This was in accordance with a recent study showing that adult males with classic CAH have a rather low BP compared with healthy men [34].

In this intricate scenario, it is reasonable to expect a high CV risk profile in CAH patients. However, the impact of these risk factors on the vascular system has never been systematically ascertained. The long-term outcomes in CAH patients have recently been studied using the Swedish national CAH registry [20]. The hazard ratio of death was 2.3 (1.2–4.3) in males and 3.5 (2.0–6.0) in females. The causes of death were adrenal crisis (42%), CV diseases (32%), cancer (16%), and suicide (10%). Interestingly, the same team analyzed CV and metabolic morbidity in CAH patients [21]. This study showed an increase in both CV and metabolic disorders. Separate analyses of the individual diseases showed higher frequencies of hypertension, dyslipidemia and atrial fibrillation in CAH patients [21]. Obesity was consistently increased in all subgroups. However, the nonobese patients with CAH were similarly affected as the entire CAH cohort. There was also an increased frequency of obstructive sleep apnea in this CAH cohort. Similarly, the frequency of diabetes was increased, especially in females with the SV (I172N genotype) or nonclassic phenotype. An increased frequency of venous thromboembolic events was also reported. CAH is therefore associated with higher CV risk factors and probably with excess CV and metabolic morbidity. Some subgroups of patients seem to be more affected.

Thus, a regular and long-term follow-up of CAH patients is needed, along with lifestyle interventions, which must be introduced from childhood and continued into adulthood, to limit the onset of weight gain and obesity, to screen for diabetes, other metabolic disorders, and CV risk factors. Close monitoring of GC doses is important during the whole life, to avoid these complications.