Reconsidering the difference between mixed gonadal dysgenesis and true hermaphroditism

Study Objective. To consider the similarities and differences between mixed gonadal dysgenesis and true hermaphrotidism. Design: A single patient meeting the strict definitional criteria of both mixed gonadal dysgenesis and true hermaphroditism is presented. Setting: Reproductive Endocrinology Division, Medical College of Georgia. Participant: 45,X/46,XY child with sexual ambiguity. Interventions: Surgical assignment of female gender and removal of a gonadoblastoma. Conclusions. The present patient demonstrates the confusion that may arise in the strict definitional categorization of intersex disorders. Until better diagnostic capabilities are developed, we propose excluding altogether individuals with a 45,X cell line by definition from the diagnosis of true hermaphroditism.