2 SRY-NEGATIVE XX MALE BROTHERS WITHOUT GENITAL AMBIGUITY

Citation
Jc. Zenteno et al., 2 SRY-NEGATIVE XX MALE BROTHERS WITHOUT GENITAL AMBIGUITY, Human genetics, 100(5-6), 1997, pp. 606-610
Citations number
48
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
03406717
Volume
100
Issue
5-6
Year of publication
1997
Pages
606 - 610
Database
ISI
SICI code
0340-6717(1997)100:5-6<606:2SXMBW>2.0.ZU;2-E
Abstract
We report a Mexican family in which two sibs were identified as ''clas sic'' XX males without genital ambiguities. Molecular studies revealed that both patients were negative for several Y sequences, including S RY. A review of familial cases disclosed that this is the first family where a complete male phenotype was observed in Y-negative XX male no n-twin brothers. These data suggest that an inherited loss-of-function mutation, in a gene participating in the sex-determining cascade, can induce normal male sexual differentiation in the absence of SRY.