Term Name: 46,XY sex reversal 8
Synonyms: male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase, SRXY8, TDD
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 homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1.
Ontology: Human Disease [DOID:0111773]   ( DOID:0111773 )

Relationships
is a type of: 46,XY complete gonadal dysgenesis autosomal recessive disease