Human Genetics

, Volume 85, Issue 1, pp 85–88 | Cite as

Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome

  • Durval Damiani
  • Ana Elisa C. Billerbeck
  • Anna Carla K. Goldberg
  • Nuvarte Setian
  • Marc Fellous
  • Jorge Kalil
Original Investigations


Four patients with 46,XX true hermaphroditism and one patient with 46,XY pure gonadal dysgenesis (Swyer syndrome) were analyzed with a Y chromosome-derived probe that detects a specific fragment on the short arm of the Y chromosome in the putative testicle-determining region and also a fragment on the short arm of the X chromosome. Normal males and females, an individual with Turner syndrome, and patients with various causes of anomalous gonadal differentiation accompanied by cytogenetically present Y chromosome were used as controls. The Y-specific fragment was not detected in any of the persons with 46,XX true hermaphroditism. However, this fragment was positive in the 46,XY female and in all Y-bearing patients. Cytogenetic and molecular absence of the ZFY sequence in 46,XX true hermaphrodites calls for explanations other than the classic embryogenie theory. The absence of testicular differentiation in the ZFY-positive XY female evidences functionally altered sex determination or, alternatively, defective gonadal receptors.


Turner Syndrome Normal Male Specific Fragment Gonadal Dysgenesis Gonadal Differentiation 
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 1990

Authors and Affiliations

  • Durval Damiani
    • 1
  • Ana Elisa C. Billerbeck
    • 2
  • Anna Carla K. Goldberg
    • 2
  • Nuvarte Setian
    • 1
  • Marc Fellous
    • 3
  • Jorge Kalil
    • 2
  1. 1.Unidade de Endocrinologia PediátricaInstituto da Criança da Faculdade de Medicina da Universidade de Sao PauloSao PauloBrasil
  2. 2.Laboratório de Imunologia de TransplantesInstituto do Coraçao and Laboratório de Investigaçao em Reumatologia da Faculdade de Medicina da Universidade de Sao PauloSao PauloBrasil
  3. 3.Laboratoire d'Immunogénétique HumaineInstitut PasteurParisFrance

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