17 Alpha hydroxylase deficiency syndrome is a very rare disorder of the genes (specifically on steroid biosynthesis) which causes reduced production of sex steroids and glucocorticoids while the mineralocorticoid precursors are observed to have increased synthesis. It is, therefore, an autosomal recessive condition. The absence or deficiency of 17 hydroxylase results into many sexual malformations and illnesses.
The deficiency in 17 alpha-hydroxylase is a result of flaws in cytochrome P450c17. cytochrome P450c17 is the only enzyme that has 17 alpha-hydroxylase and also 17, 20-ylase activities.
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