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Human Genetics

, Volume 100, Issue 5–6, pp 606–610 | Cite as

Two SRY-negative XX male brothers without genital ambiguity

  • Juan Carlos Zenteno
  • Marisol López
  • Clementina Vera
  • Juan Pablo Méndez
  • S. Kofman-Alfaro
Original investigation

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.

Keywords

Molecular Study Sexual Differentiation Familial Case Male Phenotype Mexican Family 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • Juan Carlos Zenteno
    • 1
  • Marisol López
    • 2
  • Clementina Vera
    • 1
  • Juan Pablo Méndez
    • 3
  • S. Kofman-Alfaro
    • 1
  1. 1.Servicio de Genética, Hospital General de México-Facultad de Medicina, UNAM, Dr. Balmis 148, Col. Doctores, C. P 06726, México, D. F., México e-mail: skofman@servidor.unam.mx
  2. 2.Departamento de Sistemas Biológicos, UAM-X, México, D. F., México
  3. 3.Unidad de Investigación Médica en Biología del Desarrollo, Hospital de Pediatría, Centro Médico Nacional SXXI, IMSS, México, D. F., México

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