Classical forms of congenital adrenal hyperplasia (CAH) are generally diagnosed in neonates (salt wasting form) or in early childhood (pure virilizing form). Here, we report the case of a 39 years old man from Sri Lanka in whom a classical CAH has been diagnosed during the exploration of infertility with azoospermia, along with extremely low gonadotropins contrasting with a normal level of testosterone. Hormonal tests revealed high serum 17-hydroxyprogesterone levels (255 ng/ml) and an extremely low level of cortisol with no response to the ACTH stimulation test and high levels of ACTH. The genetic study of CYP21A2 gene found 3 different mutations (c.1066C>T, c.166G>A, c.126C>T), 2 of which are associated with the classical form of 21 hydroxylase deficiency. The patient has never received glucocorticoids, and has never presented signs of adrenal insufficiency or adrenal crisis, suggesting the role of adrenal steroid precursors in the activation of glucocorticoid receptors.
22 May 2021 - 26 May 2021