Human genes for 46,XY sex reversal 8
46,XY sex reversal 8 [DOID:0111773]
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 AKR1C2 on chromosome 10p15.1.
Synonyms: 46,XY sex reversal 8, 46XY sex reversal 8, DOID:0111773, male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase, SRXY8 ...