Androgen insensitivity occurs when a genetic male infant is not responsive to male hormones (androgens). Children with androgen insensitivity produce a normal amount of testosterone. However the body does not appropriately respond to these androgens resulting in individuals with normal female appearance, normal breast development, scant body hair, and absent uterus and abnormal vaginal development. Diagnosis and treatment of androgen insensitivity requires experience with the condition as well as the sensitive psychological issues it can raise in the affected children and parents.
Androgen insensitivity syndrome is inherited by a defect in the androgen receptor gene on the X chromosome. Mothers who carry the gene have a 50 percent chance of having a son with androgen insensitivity syndrome, while daughters (of mothers who carry the gene) have a 50 percent chance to be carriers of the gene.
North Shore-LIJ gynecologists are experienced in the diagnosis and treatment of androgen insensitivity. For more information on androgen insensitivity or to schedule a consultation, please contact the Division of Pediatric and Adolescent Gynecology at Cohen Children’s Medical Center of New York at 516-390-9258. For an emergency call 911 or go to the Cohen Children's Medical Center Emergency Room.