Diagnosis of abnormalities in gonadal development

The role of the clinical laboratory in the diagnosis of abnormalities in gonadal development is reviewed, beginning with a description of the normal differentiation of the ovary and testis and the major types of disorders encountered. The conditions are classified as resulting from abnormal gonadal differentiation, defective endocrine function or excessive endocrine activity. Germ cell neoplasms are also reviewed. Laboratory procedures utilized in evaluation of gonadal abnormalities include cytogenetic, hormonal, and histopathologic studies. Standard procedures are described as well as newer method which have undergone increasing use in recent years and other specialized procedures which are under investigation for possible clinical application.