Clinical and genetic analysis of two patients with 17α-hydroxylase/17,20-lyase deficiency
Online published: 2015-03-26
Supported by
Henan Province Basic and Frontier Research Project, 142300410071
Objective To analyze the clinical and molecular genetic characteristics of 2 patients with 17α-hydroxylase/17, 20-lyase deficiency. Methods Clinical data and data of basal hormone determinations and imaging examinations of two patients who were treated at the Department of Endocrinology, People's Hospital of Zhengzhou University from September 2007 to July 2008 were collected and CYP17A1 gene of patients were detected. Results The 2 patients had typical clinical presentations of hypertension, hypokalemia, and sexual infantilism. Hormone determination revealed that the blood cortisol level was below the normal, the feedback effect of adrenocorticotropic hormone (ACTH) increased, the activity of renin was inhibited, testosterone and estrogen levels were significantly lower than the normal, and the gonadotropin level increased. CT scan showed bilateral adrenal hyperplasia. Detection of CYP17A1 gene revealed that there was a compound mutation c.1 045del and c.1 047C>A in the exon 6 of CYP17A1 gene of the two patients, which resulted in a base deletion and a base transversion (TAC/AA) at codon 329, caused a missense mutation of Tyr-Lys and the open reading frame shift following this codon, and produced a termination codon 418TGA in advance. Conclusion For patients with hypertension, hypokalemia, and dysplasia, the possibility of 17 alpha-hydroxylase deficiency should be considered. The alternation of P450c17 structure caused by the mutation of CYP17A1 gene is the molecular basis of 17α-hydroxylase deficiency.
Key words: 17α-hydroxylase/17,20-lyase deficiency; CYP17A1 gene; mutation
HU Zi-ying , ZHAO Zhi-gang , WANG Yan-fang , et al . Clinical and genetic analysis of two patients with 17α-hydroxylase/17,20-lyase deficiency[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2015 , 35(3) : 375 . DOI: 11.3969/j.issn.1674-8115.2015.03.014
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