P394: Case study of Yp11.31 deletion in XXY phenotypic female

Females with a 47,XXY karyotype and Yp11.31 deletion are extremely rare. This case report indicates that the deletion may influence her female phenotype, given that the region includes the SRY gene. Her phenotype needs to be monitored long-term. Previous reports of 47,XXY females with SRY deletion demonstrated normal ovarian function despite Y chromosome material in the setting of double X chromosome dosage. However, due to the uncertainty of sexual development in these rare cases, close surveillance is recommended to monitor for appropriate development.