Term Name: | 46,XY sex reversal 8 |
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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 ) |