17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation:Three case reports  

作　　者：Dai Zhang Jian-Ran Sun Jiang Xu Yan Xing Mao Zheng Shan-Dong Ye Jie Zhu 

机构地区：[1]Department of Endocrinology,The First Affiliated Hospital of USTC,Division of Life Sciences and Medicine,University of Science and Technology of China,Hefei 230001,Anhui Province,China [2]Department of Endocrinology,Endocrinology Laboratory of the First Affiliated Hospital of USTC,Hefei 230001,Anhui Province,China

出　　处：《World Journal of Clinical Cases》2021年第8期1923-1930,共8页世界临床病例杂志

基　　金：Anhui Province Central Guided Local Science and Technology Development Funding Project,No.2017070802D147;Anhui Province Key Clinical Specialist Construction Fund.

摘　　要：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.

关 键 词：Cytochrome P450c17 17-α-hydroxylase-17 20-lyase deficiency Phenotype MUTATION Case report 

分 类 号：R586[医药卫生—内分泌]