Conditions / Genetic
46,XY sex reversal 7
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 DHH on c
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 DHH on chromosome 12q13.12.
Signs and symptoms
- Sex reversal
- Streak ovary
- Gonadal dysgenesis, male
- Hypoplasia of the uterus
- Gonadoblastoma
- Hypoplasia of the fallopian tube
- Abnormal epididymis morphology
- Primary amenorrhea
- Dysgerminoma
Also known as: 46,XY gonadal dysgenesis, partial or complete, DHH-related; 46,XY sex reversal, partial or complete, DHH-related; GDXYM; SRXY7; gonadal dysgenesis, XY, male limited