primary ovarian insufficiency 7

A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.

Signs and symptoms

• Elevated circulating luteinizing hormone level
• Elevated circulating follicle stimulating hormone level
• Gonadal dysgenesis
• Premature ovarian insufficiency
• Primary amenorrhea
• Hypoplasia of the uterus
• Clitoral hypertrophy
• Absent pubic hair
• Secondary amenorrhea