(Q365589)

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
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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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