ovarian dysgenesis 9

info · Genetic

A 46 XX gonadal dysgenesis characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age that has_material_basis_in homozygous mutation in the SPIDR gene on chromosome 8q11.

Signs and symptoms

Premature ovarian insufficiency
Hypoplasia of the uterus
Delayed skeletal maturation
Elevated circulating luteinizing hormone level
Elevated circulating follicle stimulating hormone level
Delayed puberty
Decreased serum estradiol
Decreased circulating antimullerian hormone circulation
Primary amenorrhea
Hypoplasia of the ovary

Also known as: ODG9