methemoglobinemia and ambiguous genitalia

A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemo

A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3.

Signs and symptoms

• Ambiguous genitalia
• Elevated circulating luteinizing hormone level
• Methemoglobinemia
• Bifid scrotum
• Decreased circulating dehydroepiandrosterone-sulfate concentration
• Scrotal hypospadias
• Micropenis
• Cyanosis
• Male pseudohermaphroditism
• Hypospadias

Also known as: METAG; methemoglobinemia due to deficiency of cytochrome b5; methemoglobinemia type IV; pure isolated 17,20-lyase deficiency