Early reports of testicular tumors in CAH were predominantly in poorly controlled patients (10,11,14,28,38-40,49). Those observations led to the hypothesis that poor hormonal control and inadequate ACTH secretion suppression is a dominant etiological factor in the development of the testicular tumors in CAH. This hypothesis is supported by the development of tumors in other patients who have elevated ACTH levels, such as in Nelson's syndrome (50,51) and in Addison's disease (52).
However, in more recent studies, no correlation was found between the presence of testicular tumors and the degree of hormonal control (5,6,17,18,20). Nevertheless, other associations were found, such as a higher incidence of these tumors in patients with salt-wasting CAH (5) or larger tumors in patients with at least one deletion/conversion of the CYP21 gene (6).
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