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Two SRY-negative XX male brothers without genital ambiguity.

Abstract：

:We report a Mexican family in which two sibs were identified as "classic" XX males without genital ambiguities. Molecular studies revealed that both patients were negative for several Y sequences, including SRY. A review of familial cases disclosed that this is the first family where a complete male phenotype was observed in Y-negative XX male non-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.

journal_name

Hum Genet

journal_title

Human genetics

authors

Zenteno JC,López M,Vera C,Méndez JP,Kofman-Alfaro S

doi

10.1007/s004390050561

subject

Has Abstract

pub_date

1997-10-01 00:00:00

pages

606-10

issue

5-6

eissn

0340-6717

issn

1432-1203

journal_volume

100

pub_type

杂志文章

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