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GENATLAS PHENOTYPE
last update : 04-10-2018
Symbol SRA3
Location 9q33.3
Name 46,XY disorder of sex development, NR5A1 related
Other name(s)
  • sex reversal XY with/without adrenal failure
  • XY gonadal dysgenesis
  • severe spermatogenic failure
  • 46XY sex reversal 3
    • Corresponding gene NR5A1
    Other symbol(s) XYDSD, SRXY3
    Main clinical features
  • female or ambiguous external genitalia with dysgenetic testis
  • more severe phenotypes include primary adrenal failure, milder phenotypes have isolated partial gonadal dysgenesis
    • Genetic determination autosomal dominant
    autosomal recessive
    Prevalence . NR5A1 mutations are found in approximately 4% of men with otherwise unexplained severe spermatogenic failure (PMID: 20887963)
    Related entries POF4
    Function/system disorder sex-genitalia
    Type malformation
    Gene product
    Name steroidogenic factor-1, a nuclear receptor key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     7/315 men with severe spermatogenic failure
    Remark(s) incomplete penetrance with discordant twins; mutation may be inherited from a mother with primary ovarian deficiency or apparently normal ovarian function (PMID: 19246354))