Mutations in the androgen receptor gene are a more common cause of male pseudohermaphroditism. These mutations are inherited as X-linked defects and cause several syndromes that have similar pathophysiology and hormone profiles.
In some families, the fundamental defect is due to the point mutations which lead to premature termination codons that truncate the receptor. Other point mutations lead to single amino-acid substitutions that either interfere with hormone binding or DNA binding, selectively (see Fig. 11.11). In rare instances, deletions in the receptor gene may be present.
