ovarian dysgenesis 7

A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23.

Signs and symptoms

• Elevated circulating luteinizing hormone level
• Elevated circulating follicle stimulating hormone level
• Decreased serum estradiol
• Hypoplasia of the uterus
• Delayed skeletal maturation
• Delayed puberty
• Primary amenorrhea