primary ovarian insufficiency 17

A primary ovarian insufficiency that is characterized by early cessation of menses after initial menarche, with small ovaries and uterus and that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36.

Signs and symptoms

• Premature ovarian insufficiency
• Elevated circulating luteinizing hormone level
• Elevated circulating follicle stimulating hormone level
• Decreased circulating inhibin B concentration
• Decreased serum estradiol
• Decreased circulating antimullerian hormone circulation