ovarian dysgenesis 10

info · Genetic

A 46 XX gonadal dysgenesis characterized by primary amenorrhea and absent puberty that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12.

Signs and symptoms

Premature ovarian insufficiency
Elevated circulating luteinizing hormone level
Elevated circulating follicle stimulating hormone level
Delayed puberty
Decreased serum estradiol
Primary amenorrhea
Streak ovary
Hypoplasia of the ovary

Also known as: ODG10