A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy

A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy

Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, precocious p...

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Bibliographic Details
Main Authors: Mohammad A. Alqahtani, Ayed A. Shati, Minjing Zou, Ali M. Alsuheel, Abdullah A. Alhayani, Saleh M. Al-Qahtani, Hessa M. Gilban, Brain F. Meyer, Yufei Shi
Format: Article
Language:English
Published: Hindawi Limited 2015-01-01
Series:International Journal of Endocrinology
Online Access:http://dx.doi.org/10.1155/2015/595164

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