title: Partially deleted SRY gene confined to testicular tissue in a 46,XX true hermaphrodite without SRY in leukocytic DNA.
abstract: True hermaphroditism is an uncommon form of intersexuality in which testicular and ovarian tissue develop in the same individual. Most true hermaphrodites are 46,XX and lack SRY, the testis-determining gene. We describe results of molecular studies performed in a 46,XX true hermaphrodite SRY-negative in DNA from blood leukocytes but SRY-positive in DNA obtained from the testicular portion of the ovotestis. Surprisingly, the SRY identified in gonadal DNA carries a partial deletion at the 5' end of the gene. Our patient is the first case of a naturally occurring deletion within the SRY ORF (with a normal HMG box) and provides a new explanation for the abnormal gonadal development observed in 46,XX true hermaphrodites.
authors.affiliation: Departamento de Genética, Hospital General de México-Facultad de Medicina, UNAM, México, D.F., México.
authors.forename: A L
authors.initials: AL
authors.lastname: Jiménez
authors.forename: S
authors.initials: S
authors.lastname: Kofman-Alfaro
authors.forename: J
authors.initials: J
authors.lastname: Berumen
authors.forename: E
authors.initials: E
authors.lastname: Hernández
authors.forename: P
authors.initials: P
authors.lastname: Canto
authors.forename: J P
authors.initials: JP
authors.lastname: Méndez
authors.forename: J C
authors.initials: JC
authors.lastname: Zenteno
mesh_terms: D004247:DNA; D004268:DNA-Binding Proteins / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D017353:Gene Deletion; D006801:Humans; D051741:Kruppel-Like Transcription Factors; D007962:Leukocytes / Q000166:cytology; D008297:Male; D009687:Nuclear Proteins; D051876:Sex-Determining Region Y Protein; D013737:Testis / Q000473:pathology*; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; D051741:Kruppel-Like Transcription Factors; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; C054430:ZFY protein, human; D004247:DNA