Classical forms of 21 hydroxylase defisciency are generally observed during bith life and present as loss of salt or rapid puberty in young boy. We report a rare case of classical 21 hydroxylase defisciency presented as low gonadotrophines contrasted with normal level of testosterone. This was related to a 39 years old patient consulted for male infertility. Clinical exam was normal, including a normal level of blood tension. Liquid chromatographytandem mass spectrometry revealed a high serum progesterone level, high 17-hydroxyprogesterone (17OHP) (262 ng/ml), and high levels of 17OHP metabolites, suggesting a classic form of 21OHD. Genetic exam has found heterozygoty with triple mutation of CYP21A2 gene including two forms of classical 21 hydroxylase defisciency. CT scann revealed a bilateral non nodular adrenal hyperplasia. Our case report illustrates the fact that a classic form of 21OHD can be diagnosed in late adulthood, manifested by hypogonadotropic hypogonadism and azoospermia, associated with elevated 17OHP.
22 May 2021 - 26 May 2021