title: Report of an XX male with hypospadias and pubertal gynecomastia, SRY gene negative in blood leukocytes but SRY gene positive in testicular cells.
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 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.
authors.affiliation: Laboratory Research Unit, Hospital de Pediatria, Garrahan, Buenos Aires, Argentina.
authors.forename: A
authors.initials: A
authors.lastname: Dardis
authors.forename: N
authors.initials: N
authors.lastname: Saraco
authors.forename: H
authors.initials: H
authors.lastname: Mendilaharzu
authors.forename: M
authors.initials: M
authors.lastname: Rivarola
authors.forename: A
authors.initials: A
authors.lastname: Belgorosky
mesh_terms: D000293:Adolescent; D004247:DNA / Q000097:blood; D006177:Gynecomastia / Q000235:genetics*; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D007962:Leukocytes / Q000737:chemistry; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012729:Sex Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D013737:Testis / Q000737:chemistry / Q000166:cytology; D014998:Y Chromosome / Q000235:genetics*
chemical_list: D004247:DNA