17α-hydroxylase/17,20 carbon chain lyase deficiency caused by ***329fs homozygous mutation:Three case reports

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

作者机构：Department of EndocrinologyThe First Affiliated Hospital of USTCDivision of Life Sciences and MedicineUniversity of Science and Technology of ChinaHefei 230001Anhui ProvinceChina Department of EndocrinologyEndocrinology Laboratory of the First Affiliated Hospital of USTCHefei 230001Anhui ProvinceChina 

出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)

年 卷 期：2021年第9卷第8期

页      面：1923-1930页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

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

主　　题：Cytochrome P450c17 17-α-hydroxylase-17,20-lyase deficiency Phenotype Mutation Case report 

摘      要：***329fs is a cytochrome P450c17 mutation among Chinese ***,data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 ***329fs homozygous mutation are *** paper is a case report of three patients homozygous for ***329fs who were diagnosed with 17-α-hydroxylase deficiency between 2005 and *** SUMMARY Case 1 presented with hypertension,hypokalemia,sexual infantilism and delayed bone *** patient had a 46,XY karyotype,was homozygous for ***329fs and was recently treated with dexamethasone 0.375 mg *** 2 presented with hypokalemia,sexual infantilism,osteoporosis and delayed bone *** patient had a 46,XY karyotype,was homozygous for ***329fs and was treated with dexamethasone 0.75 mg qn at the last *** potassium and blood pressure could be maintained within normal range for cases 1 and *** 3 presented with amenorrhea,sexual infantilism,osteopenia and delayed bone *** patient had a 46,XX karyotype,was homozygous for ***329fs and was treated with dexamethasone 0.75 mg qn and progynova 1 mg *** follow-up revealed an adrenocorticotropic hormone(8 AM)of5.00 pg/*** The homozygous ***329fs mutation usually manifests as a combined deficiency,and definitive diagnosis depends primarily on genetic testing.