Testicular feminization syndrome

A condition in which a person has the external genitals of a female, but the internal organs of a male.


The development of female sex characteristics in a male. An affected individual is genetically male, with XY sex chromosomes, at the time of conception. Normally, in an XY fetus, male hormones called androgens cause male genitals to develop. However, in testicular feminization, the male fetus is unable to respond to the androgens produced, and the result is a fetus in whom female genitals are developed externally, even though male testes are developed internally, instead of a uterus and ovaries. People with the condition are infertile and cannot reproduce, although they otherwise function as normal females. The condition occurs in one in 20,000 individuals. The male testicles are usually present in the abdomen, where they are sometimes mistaken for hernias.


An uncommon hereditary condition occurs when a person who possesses male genetics and internal testes presents externally as female. This syndrome falls under the intersex category and is the prevailing form of male pseudohermaphroditism.


The reason behind this is a malfunctioning reaction of the body’s tissues to the male sex hormone testosterone. The genes responsible for this condition are located on the X chromosome, allowing females to be carriers and transmit the genes to their sons.


Individuals impacted by this condition appear as girls during their early years. The majority of them develop typical female secondary sexual traits once they reach puberty. However, menstruation is absent due to the absence of a uterus, and their vagina is usually short and terminates blindly. Those with testicular feminization syndrome often have a taller stature and generally enjoy good health.


Testicular feminizing syndrome may be diagnosed before puberty if a girl is found to have an inguinal hernia or a swelling in the labia (skinfolds 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 amenorrhoea (failure to menstruate). This is confirmed by chromosome analysis, which shows the presence of male chromosomes, and blood tests, which show male levels of testosterone. The treatment of testicular feminization syndrome involves surgical removal of the testes, to prevent cancerous change in later life, and therapy with oestrogen drugs. An affected person is not fertile but can live a normal life as a woman.


 


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