SUCCESS OF GLUCOCORTICOID REPLACEMENT THERAPY ON FERTILITY IN 2 ADULTMALES WITH 21-CAH HOMOZYGOTE CLASSIC FORM

A normal gonadal maturation with normal fertility are some of the majo r goals of long-term replacement therapy in adult males with Congenita l Adrenal Hyperplasia (CAH). We describe here two young men, G.O. (cas e A, 23 years old) and S.S.(case B, 24 years old), both with a well de fined diagnosis of CAH due to 21-hydroxylase deficiency classic homozy gote form (21-CAH). In case A the diagnosis of the 21-CAH classic viri lizing form was made at 3 years of age. The patient has undergone gluc ocorticoid therapy and is now 170 cm tall; all his hormonal findings a re within the normal range. The semen analysis has shown a good fertil ity potential, with a slight modification when the patient decided to discontinue the therapy. In case B the diagnosis of the 21-CAH salt wa sting form was performed at 9 days of age. The patient was initially t reated with iv normal saline solution and a daily im injection of hydr ocortisone and, subsequently, with mineral and glucocorticoid replacem ent therapy po. A satisfactory adult stature (165 cm) was attained. Th e patient is still on therapy, with a good hormonal profile. The semen analysis has shown an apparently normal fertility. In conclusion, our experience in adult males with 21-CAH, who have been administered pro mpt and adequate replacement therapy, shows that these patients can at tain normal quality of life, satisfactory growth and development, norm al sexual maturation and activity, and adequate sperm fertilizing abil ity, thereby supporting the usefulness of continuing this therapy duri ng adult age. (C) 1997, Editrice Kurtis.