Conditions / Genetic
46,XY sex reversal 8
info · Genetic
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 AKR1
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.
Signs and symptoms
- Sex reversal
- Ambiguous genitalia
- Male pseudohermaphroditism
- Cryptorchidism
Also known as: SRXY8; TDD; male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase