Partially deleted SRY gene confined to testicular tissue in a 46,XX true hermaphrodite without SRY in leukocytic DNA.
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.
Jiménez
A L
AL
Departamento de Genética, Hospital General de México-Facultad de Medicina, UNAM, México, D.F., México.
Kofman-Alfaro
S
S
Berumen
J
J
Hernández
E
E
Canto
P
P
Méndez
J P
JP
Zenteno
J C
JC
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
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