Congenital adrenal hyperplasia, due to 17-alpha-hydroxylase deficiency


What is Congenital Adrenal Hyperplasia, 17 alpha-hydroxylase?

Congenital Adrenal Hyperplasia, 17 alpha-hydroxylase is part of a larger group of disorders called Congenital Adrenal Hyperplasias. Congenital Adrenal Hyperplasias are disorders that are caused by a defect in the creation of steroid hormones in the adrenal cortex (part of the gland that sits on your kidneys). There are many steps in creating steroid hormones in the adrenal cortex. In Congenital Adrenal Hyperplasia, 17 alpha-hydroxylase the enzyme 17 alpha-hydroxylase is not working correctly. Glucocorticoids (substances in the body that maintain blood sugar and stress response), mineralocorticoids (responsible for water and salt balance), and sex steroids (responsible for normal sexual development and reproduction) are not made by the body in the correct amount to keep you healthy.

Reference: Mula-Abed, W.-A. S., Pambinezhuth, F. B., Al-Kindi, M. K., Al-Busaidi, N. B., Al-Muslahi, H. N., & Al-Lamki, M. A. (2014). Congenital Adrenal Hyperplasia due to 17-alpha-hydoxylase/17,20-lyase Deficiency Presenting with Hypertension and Pseudohermaphroditism: First Case Report from Oman.Oman Medical Journal, 29(1), 55-59.

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