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Article

A unique exonic splicing mutation in the CYP17A1 gene as the cause for steroid 17{alpha}-hydroxylase deficiency.

European journal of endocrinology - 1 Apr 2011

Qiao Jie, Han Bing, Liu Bing-Li, Liu Wei, Wu Jia-Jun, Pan Chun-Ming, Jiang He, Gu Ting, Jiang Bo-Ren, Zhu Hui, Lu Ying-Li, Wu Wan-Ling, Chen Ming-Dao, Song Huai-Dong

Abstract excerpt

BACKGROUND: 17α-Hydroxylase/17,20-lyase deficiency (17OHD) caused by a mutation in the CYP17A1 gene is characterized by hypertension, hypokalemia, and abnormal development of the genitalia. The majority of CYP17A1 mutations are located in the coding sequence, and several intronic splicing site mutations have been reported. OBJECTIVE: A 2.5-year-old girl with 46,XY disordered sex development exhibited a nearly...

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PMID: 21282350
DOI: 10.1530/EJE-10-0933

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