primary ovarian insufficiency 10

A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the MCM8 gene on chromosome 20p.

Signs and symptoms

• Premature ovarian insufficiency
• Elevated circulating luteinizing hormone level
• Elevated circulating follicle stimulating hormone level
• Hypothyroidism
• Decreased testicular size
• Primary amenorrhea
• Azoospermia
• Hypoplasia of the ovary