5-alpha-reductase deficiency

noun

: a genetic disorder in which males exhibit external genitalia that typically resembles that of females but in which some secondary sex characteristics (such as an increase in muscle mass and descending of the testes) develop during puberty

Note: 5-alpha-reductase deficiency is caused by a deficiency of 5-alpha-reductase during embryogenesis and is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome.