Rare Syndromes Associated with Infertility

Although rare syndromes seldomly are the reason for infertility, physicians for reproductive medicine should be aware of these syndromes. The majority of syndromes can be diagnosed clinically by thorough exploration of the personal and family histories and by extensive medical examination. To confirm a genetic diagnosis, specific tests have to be carried out. If a syndrome is detected, it often explains not only the reproductive failure but also other possible disabilities, leading to a specific therapy and accurate genetic counseling of the affected, patient and his family.