In the androgen insensitivity syndrome (AIS) the afdrogen effect is decreased in the fetus and the youth despite the adequate testosterone production. Usually the mutation of the androgen receptor is responsible for the disease. In the presented case the external genitalia were similar to female genitalia but masses were palpable in the labioscrotal fold. The karyotype was 46,XY. There was no increase in the testosteron level during the first three months of life. The stimulation test by stanazolol and the androgen receptor gene analysis verified the androgen insensitivity. The mutation was absent in the mother's leukocytes. This fact makes the genetic advising difficult in this family.
|Translated title of the contribution||Incomplete androgen insensitivity|
|Number of pages||3|
|Publication status||Published - Sep 17 2006|
ASJC Scopus subject areas