[Cortico-adrenal-genital syndrome. Diagnosis, therapy, follow-up]

Recently new advances are achieved in the diagnosis of CAH, by discovering clinical forms different from the classical one: the late-onset and the cryptic-CAH. While the diagnosis of classical form mainly depends on dosing 17-OH-progesterone levels in all newborns, the detection of non-classical form requires measurement of adrenal steroids in basal conditions and after ACTH stimulation. The Authors recommend a careful follow-up of treated patients by frequent clinical and hormonal evaluations in order to prevent slightly unsuitable therapy that could compromise the achievement of adequate adult height. It is necessary to evaluate not only the daily total amount, but also the pattern of administration and which adrenal preparation is preferable.