XX male syndrome (Q365589)

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rare congenital condition where an individual with XX chromosomes is born with a penis and testes
  • De la Chapelle syndrome
  • 46,XX testicular disorders of sex development
  • 46,XX sex reversal
  • 46,XX DSD
  • nonsyndromic 46,XX testicular DSD
  • 46, XX gonadal sex reversal
  • 46,XX testicular difference of sex development
  • 46, XX testicular disorder of sex development
  • 46, XX testicular DSD
  • XX sex reversal
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    English
    XX male syndrome
    rare congenital condition where an individual with XX chromosomes is born with a penis and testes
    • De la Chapelle syndrome
    • 46,XX testicular disorders of sex development
    • 46,XX sex reversal
    • 46,XX DSD
    • nonsyndromic 46,XX testicular DSD
    • 46, XX gonadal sex reversal
    • 46,XX testicular difference of sex development
    • 46, XX testicular disorder of sex development
    • 46, XX testicular DSD
    • XX sex reversal

    Statements

    Identifiers

    46, XX Testicular Disorders of Sex Development
    46, XX Gonadal Sex Reversal
    46, XX Testicular DSD
    46, XX Testicular Disorder of Sex Development
    Gonadal Sex Reversal, 46, XX
    Sex Reversal, Gonadal, 46, XX
    XX Male Syndrome
    XX Sex Reversal
    Congenital conditions in individuals in which male GONADS develop in a genetic female (female to male sex reversal). (English)
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    De la Chapelle syndrome English
    XX male syndrome
    De la Chapelle syndrome causes people with XX chromosomes to be born with a penis and testes. This usually happens because a particular gene typically seen on Y chromosomes (known as the SRY gene) ends up on one of their X chromosomes and causes their genitals and internal reproductive organs to develop as they typically would in someone with XY chromosomes. People with de la Chapelle might have testes that are smaller than typical or that are undescended, and they are often infertile. In adolescence, they may experience breast growth, and they might not develop the characteristics that are usually associated with a typical testosterone puberty. (English)
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    LD52.0
    Male with 46,XX karyotype
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