1: Am J Med Genet. 1994 May 15;51(1):16-21. 

Female pseudohermaphroditism with multiple caudal anomalies: absence of
Y-specific DNA sequences as pathogenetic factors.

Seaver LH, Grimes J, Erickson RP.

Department of Pediatrics, University of Arizona College of Medicine, Tucson
85724.

46,XX female pseudohermaphrodites have been previously described with nearly
complete masculinization of the external genitalia and no apparent source of
testosterone. Multiple malformations of internal genital, urinary, and
gastrointestinal tracts are associated. We have evaluated four such infants with
female pseudohermaphroditism and multiple caudal anomalies. Three cases had
apparently normal chromosomes (46,XX); one had a 46,XX,del(10)(q25.3-->qter)
chromosome constitution. The chromosome breakpoint is in the region of PAX2, a
developmentally important paired box gene which is expressed in urogenital
tissue. Using the polymerase chain reaction, we screened for the presence of
multiple Y specific sequences, including SRY (sex determining region, Y
chromosome), that could explain masculinization of the external genitalia. All
were negative for Y centromeric sequences, ZFY (Zinc finger Y), and SRY.
Furthermore, there was no evidence for adrenal or other sources of testosterone.
We suggest that the masculinization in these cases is the result of abnormal
expression of genes which would normally be regulated by testosterone.

Publication Types:
    Case Reports

PMID: 7913293 [PubMed - indexed for MEDLINE]


---------------------------------------------------------------