The article describes a clinical case of a patient, phenotypically male, with male gender identity and male type of external
genitalia, but two-sided cryptorchidism, who first time seek medical attention due to urological complaints in adulthood. During the
diagnostics, it was found that he has internal female reproductive organs, hypospadia of the urethra and karyotype 46, XX. Hormonal
and molecular genetic analysis allowed to diagnose the virile form of congenital adrenal hyperplasia due to 21-hydroxylase
deficiency. Late diagnostics and therapy initiation of 21-hydroxylase deficiency led to the formation of adrenal tumors, stunting,
long-existing urological problems.
Keywords: Сongenital adrenal hyperplasia; 21-hydroxylase; external genitalia virilization; hypospadias of the urethra; cryptorchidism