p.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals.However,data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p.Tyr329fs homozygous mutation are lacking.This paper is a case report of...p.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals.However,data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p.Tyr329fs homozygous mutation are lacking.This paper is a case report of three patients homozygous for p.Tyr329fs who were diagnosed with 17-α-hydroxylase deficiency between 2005 and 2019.CASE SUMMARY Case 1 presented with hypertension,hypokalemia,sexual infantilism and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was recently treated with dexamethasone 0.375 mg qn.Case 2 presented with hypokalemia,sexual infantilism,osteoporosis and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn at the last follow-up.Serum potassium and blood pressure could be maintained within normal range for cases 1 and 2.Case 3 presented with amenorrhea,sexual infantilism,osteopenia and delayed bone age.The patient had a 46,XX karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn and progynova 1 mg qd.Outpatient follow-up revealed an adrenocorticotropic hormone(8 AM)of<5.00 pg/mL.CONCLUSION The homozygous p.Tyr329fs mutation usually manifests as a combined deficiency,and definitive diagnosis depends primarily on genetic testing.展开更多
目的探讨细胞色素P450c17a酶(CYP17A1)在人神经胶质瘤细胞系T98G、U87和U251中的表达情况。方法采用Western blot和实时荧光定量PCR于蛋白质水平和mRNA水平检测细胞色素P450c17a酶(CYP17A1)在三种人胶质瘤细胞系中的表达。结果 Western ...目的探讨细胞色素P450c17a酶(CYP17A1)在人神经胶质瘤细胞系T98G、U87和U251中的表达情况。方法采用Western blot和实时荧光定量PCR于蛋白质水平和mRNA水平检测细胞色素P450c17a酶(CYP17A1)在三种人胶质瘤细胞系中的表达。结果 Western blot检测出CYP17A1蛋白在胶质瘤细胞系T98G、U251和U87中的相对表达量为0.518±0.052、0.460±0.034和0.142±0.025。T98G和U251的CYP17A1蛋白表达水平明显高于U87,差异有统计学意义(P<0.05)。实时荧光定量PCR检测结果显示CYP17A1的mRNA在T98G、U251和U87中相对转录水平为1.000±0.122、0.960±0.079、0.611±0.045,T98G和U251细胞中CYP17A1的mRNA转录水平均高于U87,差异有统计学意义(P<0.05)。同时Western blot和实时荧光定量PCR都指出T98G和U251在CYP17A1在蛋白和mRNA的表达上无统计学差异(P>0.05)。结论人胶质瘤细胞系T98G和U251中CYP17A1的表达量较高,这两种细胞系可作为良好的细胞模型用来研究CYP17A1在胶质瘤中的作用机制以及以CYP17A1为靶点的肿瘤治疗等。展开更多
基金Anhui Province Central Guided Local Science and Technology Development Funding Project,No.2017070802D147Anhui Province Key Clinical Specialist Construction Fund.
文摘p.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals.However,data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p.Tyr329fs homozygous mutation are lacking.This paper is a case report of three patients homozygous for p.Tyr329fs who were diagnosed with 17-α-hydroxylase deficiency between 2005 and 2019.CASE SUMMARY Case 1 presented with hypertension,hypokalemia,sexual infantilism and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was recently treated with dexamethasone 0.375 mg qn.Case 2 presented with hypokalemia,sexual infantilism,osteoporosis and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn at the last follow-up.Serum potassium and blood pressure could be maintained within normal range for cases 1 and 2.Case 3 presented with amenorrhea,sexual infantilism,osteopenia and delayed bone age.The patient had a 46,XX karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn and progynova 1 mg qd.Outpatient follow-up revealed an adrenocorticotropic hormone(8 AM)of<5.00 pg/mL.CONCLUSION The homozygous p.Tyr329fs mutation usually manifests as a combined deficiency,and definitive diagnosis depends primarily on genetic testing.
文摘目的探讨细胞色素P450c17a酶(CYP17A1)在人神经胶质瘤细胞系T98G、U87和U251中的表达情况。方法采用Western blot和实时荧光定量PCR于蛋白质水平和mRNA水平检测细胞色素P450c17a酶(CYP17A1)在三种人胶质瘤细胞系中的表达。结果 Western blot检测出CYP17A1蛋白在胶质瘤细胞系T98G、U251和U87中的相对表达量为0.518±0.052、0.460±0.034和0.142±0.025。T98G和U251的CYP17A1蛋白表达水平明显高于U87,差异有统计学意义(P<0.05)。实时荧光定量PCR检测结果显示CYP17A1的mRNA在T98G、U251和U87中相对转录水平为1.000±0.122、0.960±0.079、0.611±0.045,T98G和U251细胞中CYP17A1的mRNA转录水平均高于U87,差异有统计学意义(P<0.05)。同时Western blot和实时荧光定量PCR都指出T98G和U251在CYP17A1在蛋白和mRNA的表达上无统计学差异(P>0.05)。结论人胶质瘤细胞系T98G和U251中CYP17A1的表达量较高,这两种细胞系可作为良好的细胞模型用来研究CYP17A1在胶质瘤中的作用机制以及以CYP17A1为靶点的肿瘤治疗等。
