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46,XX sex reversal 1

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Description

Nonsyndromic 46,XX testicular disorders of sex development (46,XX testicular DSD) are 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 85% of individuals with nonsyndromic 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 15% of individuals with nonsyndromic 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.

GeneReviews

  • Mode of Inheritance

  • X-linked dominant inheritance

VARIANTS

1

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Genes

External Links

  • OMIM

    400045

  • Orphanet

    2138

  • HPO
  • Medgen

    C2748895

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