Y chromosome analysis and laparoscopic surgery in XY pure gonadal dysgenesis: a case report and a review of literature

Abstract

DNA analysis and laparoscopic surgery were performed on a patient with 46, XY pure gonadal dysgenesis. Southern-blot and polymerase chain-reaction analyses revealed that she had no apparent deletion of the Y chromosome, including the SRY gene (sex-determining region Y), suggesting that the patient might have some other abnormality. Since the risk of gonadal neoplasia in XY gonadal dysplasia is high, operative laparoscopy was performed to ensure that there was no malignancy in the patient. Laparoscopic surgery is recommended because of the amount of the surgery and the rapid postoperative recovery of the patient.