Ambiguous genitalia, ambiguous future: A case report of Partial Androgen Insensitivity Syndrome

Partial androgen insensitivity syndrome (PAIS) is a rare X-linked recessive disease, which can lead to 46,XY disorders of sex development (DSDs) and variable degrees of under-virilization. The only known cause of PAIS is androgen receptor (AR) nonresponsiveness to androgen, which is due to mutation of AR gene or coregulators of it. PAIS can have a wide range of phenotype from normal female external genitalia (occasionally) to ambiguous male genitalia with severe perineoscrotal hypospadias, cryptorchidism, bifid scrotum, micropenis, under masculinization and gynecomastia. In addition, there will be partial loss of secondary sexual characteristics such as facial hair reduction, testicular atrophy, decreased libido, erectile dysfunction and infertility.

کلیدواژه ها:

PAIS ، Partial androgen insensitivity syndrome ، gonadectomy ، XY disorders of sex development ، androgen receptor