SRY-negative true hermaphrodites and an XX male in two generations of the same family.
Two 46,XX true hermaphrodites and one XX male without genital ambiguities are reported. They coexist in two generations of the same pedigree, with paternal transmission and in the absence of SRY (sex-determining region, Y chromosome). These familial cases provide evidence to support the hypothesis that these disorders are alternative manifestations of the same genetic defect, probably an autosomal dominant mutation (with incomplete penetrance) or an X-linked mutation (limited by the presence of the Y chromosome).
Ramos
E S
ES
Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Brazil.
Moreira-Filho
C A
CA
Vicente
Y A
YA
Llorach-Velludo
M A
MA
Tucci
S
S
Duarte
M H
MH
Araújo
A G
AG
Martelli
L
L
D000328:Adult; D001483:Base Sequence; D002648:Child; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005836:Genitalia, Female / Q000473:pathology / Q000601:surgery; D005837:Genitalia, Male / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012732:Sex Determination Analysis; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014960:X Chromosome; D014998:Y Chromosome
D017931:DNA Primers; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors