SYNDROME
BY TKSTUDYBUD
, ANDROGEN INSENSITIVITY SYNDROME
It is an X linked recessive disorder with mutation in androgen receptor
gene.
It may lead to a female appearance in genetic males (XY).
These individuals have a male (XY) genotype, testes, and female or
ambiguous external genitalia. This is caused by abnormalities in some
aspect of male hormone physiology in the fetus.
In this disorder, the genes that produce androgen receptors have
mutations, and the resulting androgen receptors are resistant to
testosterone. So the fetal tissues fail to respond to testosterone
even though it’s produced in sufficient amounts in the fetal testes.
The lack of testosterone effect leads to the development of
undifferentiated external genitalia into female structures.