17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene
17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene
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DOI：
10.1515/jpem-2014-0444
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发表时间：
2015-07-01
影响因子：
1.4
通讯作者：
Aycan, Zehra
中科院分区：
文献类型：
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作者：
Keskin, Meliksah;Ugurlu, Aylin Kilinc;Aycan, Zehra
17-羟基酶/17-20裂解酶缺乏症(17OHD)是一种罕见的先天性肾上腺增生症。导致联合17OHD的遗传缺陷会导致皮质醇和性类固醇的产生受损，盐皮质激素的积累，以及代偿性过量的脑下垂体促肾上腺皮质激素的产生。因此，患有这种酶缺陷的人既有肾上腺皮质增生，又有不同程度的高血压、低钾血症和性发育不成熟。这名患者年龄15岁零3个月，在接受青春期延迟主诉的评估时被诊断为患有17OHD。在本病例中，通过对CYP17A1基因的序列分析，发现了p.Y27*(c.81C>；A)突变。据报道，德国一名20岁的土耳其女孩也发生了同样的突变，她在2005年因青春期延迟而接受调查。据报道，前一例血压正常，血钾正常。相同突变和总酶缺乏者的高血压严重程度的存在和差异可能表明，遗传和环境因素导致的高血压、肥胖等易感基因可能在高血压的临床表现中起作用。
17 alpha-Hydroxylase/17-20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. Genetic defects causing combined 17OHD lead to the impaired production of cortisol and sex steroids, accumulation of mineralocorticoids, and compensatory overproduction of pituitary adrenocorticotropic hormone. Consequently, individuals with this enzymatic defect present with both adrenal cortical hyperplasia and variable degrees of hypertension, hypokalemia, and sexual immaturity. The patient was aged 15 years and 3 months and she was diagnosed with 17OHD while she was being evaluated for complaints of delayed puberty. In the present case, p.Y27*(c.81C>A) mutation was revealed in the sequence analysis of the CYP17A1 gene. The same mutation was reported in a 20-year-old Turkish girl in Germany, who was investigated for delayed puberty in 2005. The previous case was reported to be normotensive and normokalemic. The presence and differences in the severity of hypertension in cases with the same mutation and total enzymatic deficiency may indicate that genes predisposed to hypertension, obesity due to genetic and environmental factors, and some other factors may play a role in the clinical presentation of hypertension.