Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.
A girl with a prenatal 46,XY karyotype was born with a completely normal female phenotype, including uterus and histologically normal ovaries. In mice with a similar phenotype, the ablation of M33, an ortholog of Drosophila Polycomb, causes male-to-female sex reversal. The analysis of the human homolog of M33, Chromobox homolog 2 (CBX2), in this girl revealed loss-of-function mutations that allowed us, by placing CBX2 upstream of SRY, to add an additional component to the still incomplete cascade of human sex development.
Biason-Lauber
Anna
A
Division of Endocrinology/Diabetology, University Children's Hospital, 8032 Zurich, Switzerland. anna.lauber@kispi.uzh.ch
Konrad
Daniel
D
Meyer
Monika
M
DeBeaufort
Carine
C
Schoenle
Eugen J
EJ
D000818:Animals; D002648:Child; D002675:Child, Preschool; D012734:Disorders of Sex Development; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis*; D006801:Humans; D007621:Karyotyping; D008297:Male; D051379:Mice; D009154:Mutation; D010053:Ovary / Q000033:anatomy & histology* / Q000378:metabolism; D010641:Phenotype; D063150:Polycomb Repressive Complex 1; D063146:Polycomb-Group Proteins; D011296:Prenatal Diagnosis; D012097:Repressor Proteins / Q000235:genetics* / Q000378:metabolism; D019849:Sex Determination Processes
C570426:Cbx2 protein, mouse; D063146:Polycomb-Group Proteins; D012097:Repressor Proteins; D063150:Polycomb Repressive Complex 1