ovarian dysgenesis 8

A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23.

Signs and symptoms

• Osteoporosis
• Elevated circulating luteinizing hormone level
• Eunuchoid habitus
• Elevated circulating follicle stimulating hormone level
• Decreased serum estradiol
• Decreased circulating antimullerian hormone circulation
• Hypoplastic labia majora
• Primary amenorrhea