XX male syndrome (Q365589)

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rare congenital condition where an individual with a female genotype has phenotypically male characteristics that can vary between cases
  • 46,XX sex reversal
  • De la Chapelle syndrome
  • XX male syndrome
  • 46,XX testicular disorders of sex development
  • 46,XX testicular difference of sex development
  • 46,XX DSD
  • nonsyndromic 46,XX testicular DSD
  • XX sex reversal
  • 46, XX gonadal sex reversal
  • 46, XX testicular DSD
  • 46, XX testicular disorder of sex development
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Language Label Description Also known as
English
XX male syndrome
rare congenital condition where an individual with a female genotype has phenotypically male characteristics that can vary between cases
  • 46,XX sex reversal
  • De la Chapelle syndrome
  • XX male syndrome
  • 46,XX testicular disorders of sex development
  • 46,XX testicular difference of sex development
  • 46,XX DSD
  • nonsyndromic 46,XX testicular DSD
  • XX sex reversal
  • 46, XX gonadal sex reversal
  • 46, XX testicular DSD
  • 46, XX testicular disorder of sex development

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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