Gonadal disorders in infancy and early childhood

Disorders of gonadal development can result from chromosomal, genetic, endocrine, or structural abnormalities. The different conditions may have similar clinical features, but behavior and management will vary depending on the particular diagnosis. Disorders that appear in infancy and early childhood are often associated with ambiguous genitalia or abnormal sexual development. Distinction is made on the basis of cytogenetic, hormonal, and, when indicated, histopathologic studies. The current review groups the different abnormalities in the following categories: chromosomal and genetic disorders; structural defects; defective endocrine function; excessive endocrine activity. The principal conditions found in these categories are discussed in terms of pathogenesis and laboratory procedures required to establish a precise diagnosis.