Chimerism as the etiology of a 46,XX/46,XY fertile true hermaphrodite.
OBJECTIVE
To determine the conceptional events resulting in a 46,XX/46,XY true hermaphrodite and to report the first pregnancy in a 46,XX/46,XY true hermaphrodite with an ovotestis.


METHODS
Chromosome studies were performed on patient lymphocytes and fibroblasts. Red cell antigens, human leukocyte antigens, and presence of Y-chromosome deoxyribonucleic acid were analyzed. Findings were compared with parental and sibling blood group data.


METHODS
Genetics clinic and laboratories of a university hospital.


RESULTS
These studies demonstrated that our patient is a chimera, with dual maternal and paternal contributions. In addition, despite the presence of an ovotestis, she conceived and delivered a child.


CONCLUSIONS
The mechanism for chimerism in this case could be fertilization of (1) the secondary oocyte and first polar body; (2) the ovum and first polar body; (3) the ovum and second polar body; or (4) fusion of two embryos.
Verp
M S
MS
Department of Obstetrics and Gynecology, Chicago Lying-In Hospital, Illinois.
Harrison
H H
HH
Ober
C
C
Oliveri
D
D
Amarose
A P
AP
Lindgren
V
V
Talerman
A
A
D000328:Adult; D001483:Base Sequence; D002678:Chimera / Q000235:genetics*; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006801:Humans; D008969:Molecular Sequence Data; D015345:Oligonucleotide Probes / Q000235:genetics; D010641:Phenotype; D011247:Pregnancy
D015345:Oligonucleotide Probes; D004247:DNA