XX male syndrome is a type of sex reversal syndrome which is rare in clinic.Its main feature is that the patient's gender is inconsistent with the chromosome,and its clinical manifestation is diverse.The mechanism of the disorder remains to be elucidated which may involve multiple genes.SRY gene is the key gene involved in sex determination and differentiation.The detection of SRY gene is helpful to diagnose the male syndrome in clinic.Cytological and molecular genetic studies,laboratory examinations and pathological examinations are the foundations for the diagnosis and treatments of patients with sexual dysplasia.In this paper,pathogenesis,clinical manifestation,laboratory examination,pathology,diagnosis and differential diagnosis,treatment,prognosis and prophylaxis were reviewed,in order to play a role in the diagnosis,treatment and prevention of XX male syndrome. |