46,XY sex reversal 1

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 hemizygous mutation in SRY on chromosome Yp11.2.

Signs and symptoms

Elevated circulating luteinizing hormone level
Sex reversal
Hypergonadotropic hypogonadism
Elevated circulating follicle stimulating hormone level
Gonadal dysgenesis with female appearance, male
Primary amenorrhea
Abnormal female external genitalia morphology
Abnormal male external genitalia morphology
Tall stature
Gonadal dysgenesis

Also known as: 46,XY gonadal dysgenesis, complete, SRY-related; 46,XY sex reversal, SRY-related; SRXY1