REPORT OF AN XX MALE WITH HYPOSPADIAS AND PUBERTAL GYNECOMASTIA, SRY GENE NEGATIVE IN BLOOD LEUKOCYTES BUT SRY GENE POSITIVE IN TESTICULAR CELLS

Most XX male subjects present an anomalous translocation of the sex-de termining region of the chromosome Y (SRY) gene from chromosome Y to c hromosome X. Several explanations have been proposed for the different iation of testicular tissue in the absence of the SRY gene. A patient is presented in whom the SRY gene was absent in peripheral leukocytes but present in testicular tissue. This possibility should always be ru led out before diagnosing Y-negative XX maleness.