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Androgen Insensitivity syndrome
What are the symptoms?
An affected infant has no virilisation, either during fetal life or
during adult life. However, the presence of a testis does not allow the
development of any internal female genitalia (no fallopian tubes,
uterus or upper two-thirds of the vagina) despite having female
external genitalia. The child is born an apparently normal girl. At
puberty, the testes produce a large amount of the male hormone
testosterone but, in the absence of its receptor, this has no effect.
However, testosterone is converted to oestrogen and the girl will have
normal breast development, without pubic or axillary hair, and will
have no periods (there is no uterus or vagina). Because the testes are
usually found in the abdomen in girls with AIS, there is a risk of them
becoming cancerous.
Background
| What are the causes? 
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