GTR Home > Conditions/Phenotypes > 46,XX sex reversal, type 1

Disease characteristics

Excerpted from the GeneReview: 46,XX Testicular Disorder of Sex Development
46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by the presence of a 46,XX karyotype; male external genitalia ranging from normal to ambiguous; two testicles; azoospermia; and absence of Müllerian structures. Approximately 80% of individuals with 46,XX testicular DSD present after puberty with normal pubic hair and normal penile size, but small testes, gynecomastia, and sterility resulting from azoospermia. Approximately 20% of individuals with 46,XX testicular DSD present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46,XX testicular DSD experience the consequences of testosterone deficiency.

Associated genes

Clinical features

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  • True hermaphroditism
  • Cryptorchidism
  • Scrotal hypoplasia
  • Bifid scrotum
  • Decreased fertility
  • Polycystic ovaries
  • Hypoplasia of penis
  • Displacement of the external urethral meatus
  • Urogenital sinus anomaly
  • Sex reversal
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Go to complete MedGen record for 46,XX sex reversal, type 1

Clinical resources

Practice guidelines

  • ESPU, 2009
    Abstracts of the ESPU (European Society for Paediatric Urology) XXth Annual Congress. May 6-9, 2009. Amsterdam, The Netherlands.
  • ICCI, 2006
    Consensus statement on management of intersex disorders. International Consensus Conference on Intersex.

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