The infertile male syndrome is not a form of male pseudohermaphroditism. Some cases are minimally affected men in families with Reifenstein's syndrome, who have azoospermia as the major manifestation of receptor abnormality. More commonly, men with uninformative family histories are ascertained because of infertility; indeed, a disorder of the androgen receptor may be present in twenty per cent or more of men with idiopathic azoospermia.
The undervirilised fertile male is the least severe manifestation of an androgen-receptor defect. In such families, affected men have gynaecomastia and undervirilisation, and some are fertile.
