46,XY sex reversal 3

Term ID

DOID:0111772

Synonyms

• 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure
• 46,XY sex reversal, partial or complete, NR5A1-related
• disorder of sex development, 46,XY, NR5A1-related
• sex reversal, XY, with or without adrenal failure
• SRXY3

Definition

A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. (2)

References

• OMIM:612965

Ontology

Human Disease   ( DOID:0111772 )