46,XY gonadal dysgenesis with minifascicular neuropathy

A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH).

Signs and symptoms

• Hyporeflexia
• Gonadal dysgenesis
• Impaired distal tactile sensation
• Hypergonadotropic hypogonadism
• Polyneuropathy
• Decreased number of peripheral myelinated nerve fibers
• Impaired distal vibration sensation
• Primary amenorrhea