A case of 48, XXYY Klinefelter's syndrome With a Female Phenotype

Abstract

A very rare case of 48, XXYY Klinefelter's syndrome was found at repair of inguinal hernia. A 8-year-old female had bilateral groin tumors suspected to be herniated ovaries. At the time of herniorrhaphy, the tumor seemed to be testis. Biopsy of the tumor was performed and confirmed it hypogonadal testis. We removed the bilateral testes at the second operation. Cytogenetic study after these operations revealed a 48, XXYY karyotype ; a very rare Klinefelter's syndrome varient. Phenotype of this syndrome commonly showed male type of external genitalia. However, in this case, the patient had a female phenotype with absence of the uterus and oviduct, and a short vagina ending blindly. It is considered that this case might be 48, XXYY Klinefelter's syndrome associated with testicular feminization syndrome.