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

Summary

Excerpted from the GeneReview: Nonsyndromic Disorders of Testicular Development
Nonsyndromic disorders of testicular development are a group of conditions characterized by the following: A generally normal physical examination with absence of clinical findings involving organ systems other than the reproductive organs. A normal 46,XY karyotype by conventional staining. External genitalia that range from ambiguous to normal female. Internal genitalia that range from absent müllerian structures to a fully developed uterus and fallopian tubes. Gonads that are characterized as normal testis, ovotestis, dysgenetic testis, or streak. Based on the particular features seen in any given individual, the clinical diagnosis may be designated as 46,XY disorder of sex development (DSD) or 46,XY complete gonadal dysgenesis (CDG).

Genes See tests for all associated and related genes

  • Also known as: SRXX1, SRXY1, TDF, TDY, SRY
    Summary: sex determining region Y

Clinical features

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