Abstract
We describe a case of a 9-year-old girl examined for short stature with growth below the 3rd percentile. As part of comprehensive examination with regard to the family history of the incidence of complete androgen insensitivity syndrome (AIS-androgen insensitivity syndrome) in a 33-year-old aunt, we indicated for our patient the cytogenetic examination, which revealed a chromosomally male.
We confirmed the complete androgen insensitivity syndrome with mutation in the gene for the androgen receptor locus on chromosome X. The same mutation is presented in her 33-year-old aunt with AIS, and the mother and the grandmother of our patient who are transmitters of the disease in the family.
Subsequent cytogenetic examination of the patient´s younger sister also confirmed the diagnosis of AIS. A prenatal diagnosis could have prevented births of children with AIS.