Conditions / Genetic
46,XY sex reversal 3
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 heterozygous mutation in the NR5A1 gene on chromosome 9q
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.
Signs and symptoms
- Elevated circulating luteinizing hormone level
- Elevated circulating follicle stimulating hormone level
- Gonadal dysgenesis
- Sex reversal
- Penoscrotal hypospadias
- Clitoral hypertrophy
- Exaggerated rugosity of the labia majora
- Hypoplasia of the uterus
- Ambiguous genitalia
Also known as: 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure; 46,XY sex reversal, partial or complete, NR5A1-related; SRXY3; disorder of sex development, 46,XY, NR5A1-related; sex reversal, XY, with or without adrenal failure