A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report

• Main Authors: Majid Nazari (Author), Mohammad Yahya Vahidi Mehrjardi (Author), Nosrat Neghab (Author), Mahdi Aghabagheri (Author), Nasrin Ghasemi (Author)
• Format: Book
• Published: Shahid Sadoughi University of Medical Sciences, 2019-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Congenital adrenal hyperplasia is a rare autosomal recessive disorder where the mutation in P450 family 17 subfamily A member 1 gene (CYP17A1) is involved in its etiology. The disorder represents itself with low blood levels of estrogens, androgens, and cortisol that generally co...