ovarian dysgenesis 5

A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34.

Signs and symptoms

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