ESPE Abstracts

Background: Androgen insensitivity syndrome (AIS), ranging from complete (CAIS) to partial (PAIS) and to mild (MAIS) forms of androgen resistance, is caused by mutations in the X-linked AR gene that encodes the androgen receptor. Some cases, however, remain without a molecular genetic diagnosis that would confirm the diagnosis especially in cases that have phenotypic similarities with other 46,XY disorders of sex development.Objective and hypoth...