Testicular feminization syndrome is a rare inherited condition in which the individual who is genetically male with internal testes has the external appearance of a female. The syndrome is a form of intersex and is the most common type of male pseudo hermaphroditism.

 

Cause

The cause of testicular feminization syndrome is a defective response of the body tissues to the male sex hormone testosterone. The causative genes are carried on the X chromosome, and therefore females can be carriers and pass on the genes to their sons.

 

Symptoms

Those affected seem to be girls throughout their childhood. Most girls who are affected develop normal female secondary sexual characteristics at puberty; but menstruation does not occur because there is no uterus and the vagina is short and blind-ending. People with testicular feminization syndrome tend to be tall, and are of normal health.

 

Diagnosis

Testicular feminization syndrome may be diagnosed before puberty if a girl is found to have an inguinal hernia or a swelling in the labia (skin folds in front of the vagina) that turns out to be a testis.

 

Otherwise, the diagnosis is usually made during investigations at puberty to find the cause of amenorrhea (failure to menstruate).

 

The diagnosis can be confirmed by chromosome analysis, which shows the presence of male chromosomes, and blood tests, which show male levels of testosterone.

 

Treatment

The treatment of testicular feminization syndrome involves surgical removal of the testes, to prevent the possibility of cancerous change in later life, and therapy with estrogen drugs. An affected person will not be fertile but is able to live a normal life as a woman.