Report of an XX Male with Hypospadias and Pubertal Gynecomastia, SRY Gene Negative in Blood Leukocytes but SRY Gene Positive in Testicular Cells
- 1 January 1997
- journal article
- case report
- Published by S. Karger AG in Hormone Research
- Vol. 47 (2) , 85-88
- https://doi.org/10.1159/000185438
Abstract
Most XX male subjects present an anomalous translocation of the sex-determining region of the chromosome Y (SRY) gene from chromosome Y to chromosome X. Several explanations have been proposed for the differentiation 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 ruled out before diagnosing Y-negative XX maleness.Keywords
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