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An autosomal recessive disorder characterized by sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve, male undermasculinization, absent or disturbed pubertal development, decreased levels of erythrocyte cytochrome B5, and excessive amounts of methemoglobin in blood cells resulting in cyanosis and hypoxia.




Isolated 17,20-lyase deficiency, pure
Methemoglobinemia due to deficiency of cytochrome b5
Methemoglobinemia type IV


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