Question

What does a person with a normal XY chromosome along with a deficiency in antiMullerian hormone receptor gene look like inside and out and why?

Answer 1

Anti Mullerian hormone is involved in disappearance of Mullerian ducts which are female ducts where as the Wolffian ducts which are male ducts are retained . Antimullerian hormone is produced by a male fetus which is genetically XY. Antimullerian hormone is also involved in the production of sex steroids during puberty.

A hormone always needs a recepor proein in the cell membranes of the target organs. If the receptors are not present, the hormne can't bring any response by the target organ.

So an individual with defective gene for antimullerian hormone receptor will not be able to develop various parts of the male reproductive system though he is genetically XY. Vasdefences, epididymis, do not form during the embryonic development. The male organs do not develop normally and hence will not be able to produce sperms and testosterone at puberty. The Mullerian ducts also do not disappear as the Anti mullerian hormone does not function.

Patient may have male appearance but their testes does not descend in to the testacles.

Such an individual will be infertile even though the external appearance is male like.