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

Inheritance

How is Congenital Adrenal Hyperplasia, 17 alpha-hydroxylase inherited?

Congenital Adrenal Hyperplasia, 17 alpha-hydroxylase is inherited in an autosomal recessive pattern. Autosomal means that both males and females can be affected with the condition. Recessive means that it takes two altered (non-working or mutated) genes for a child to be affected. Everyone has two copies of the CPY17A1 gene and in most individuals both copies function normally. If an individual inherits one normal copy of the gene and one altered (non-working or mutated) copy of the gene he or she is called a carrier, but is unaffected. If an individual inherits two altered copies of the CPY17A1 gene, he or she will be affected. This individual must have inherited one altered gene from each parent which means both of his or her parents are carriers. When both parents are carriers there is a 1 in 4 or 25% recurrence risk for each pregnancy.

Reference: Kota, S. K., Modi, K., Jha, R., & Mandal, S. N. (2011). 17-α-Hydroxylase deficiency: An unusual case with primary amenorrhea and hypertension. Indian Journal of Endocrinology and Metabolism, 15(2), 127-129.

http://doi.org/10.4103/2230-8210.81945

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3125001/#ref3

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