21羟化酶缺乏

儿科三基试题库及答案一、单选题（共98题，每题1分，共98分）1.下列方法中，对病毒性肺炎能最快做出病毒学诊断的是A、四唑氮蓝还原试验B、中性粒细胞碱性磷酸酶活性测定C、双份血清抗体测定D、免疫荧光抗体测定E、咽拭子病毒分离正确答案：D2.苯丙酮尿症造成体内苯丙氨酸积聚的原因是A、磷酸化酶激酶缺乏B、体内铜蓝蛋白缺乏C、苯丙氨酸羟化酶缺陷或四氢生物喋呤缺乏D、酪氨酸缺乏E、磷酸化酶缺陷正确答案：C3.乙肝疫苗的接种，以下哪项是错误的A、接种成功后，就不会得肝炎B、接种后很少有不良反应C、12岁时加强接种D、接种后1年内应复查免疫效果E、初次接种应连续接种3次正确答案：A4.下列哪项不是线粒体脑肌病的生化缺陷A、基质利用缺陷B、糖原合成酶缺乏C、三羧酸循环受累D、氧化/磷酸化耦联缺陷E、基质运输缺陷正确答案：B5.一足月儿新生儿，静脉血细胞比容75%，生后12小时发生呼吸暂停，引起呼吸暂停的原因最可能是A、核黄疸B、脑血栓形成C、低钙血症D、低血糖E、肺动脉高压正确答案：B6.生后2天，出现黄疸，肝脾略肿大。

血总胆红素255μmol/L(15mg/dl)。

血型A型，Rh阳性，直接抗人球蛋白试验阴性，抗体释放试验，IgG抗A 抗体阳性。

此患儿诊断是A、新生儿生理性黄疸B、新生儿ABO血型不合溶血症C、新生儿Rh血型不合溶血症D、新生儿肝炎早期E、新生儿早期败血症正确答案：B7.血清铁蛋白低于多少提示有缺铁A、194～238μg/LB、100～200μg/LC、50～100μg/LD、18～91μg/LE、14μg/L以上正确答案：E8.新生儿呼吸窘迫综合征生后几天内死亡者最多A、2天B、5天C、7天D、1天E、3天正确答案：E9.对糖皮质激素依赖的肾病综合征患儿首先需要考虑加用A、中药五芩散B、潘生丁C、环磷酰胺D、左旋咪唑E、吲哚美辛正确答案：C10.婴儿期预防接种正确的是A、8个月开始接种流脑疫苗B、10个月开始口服脊髓灰质炎疫苗C、3个月开始接种卡介苗D、出生开始接种乙肝疫苗E、5个月开始接种麻疹疫苗正确答案：D11.下列哪项不是肝豆状核变性的实验室诊断依据A、肝组织细胞含铜＞200～3000μg/g(干重)B、血清总铜增高C、24小时尿铜＞100～1000μgD、血清铜氧化酶活性降低＜0.1光密度E、血清铜蓝蛋白＜200mg/kg正确答案：B12.一胎龄33周早产儿，生后5小时出现呼吸困难，呻吟，进行性加重。

中文英文11β-羟化酶缺乏症11β-hydroxylase deficiency, 11β-OHD17α-羟化酶缺乏症17α-hydroxylase deficiency, 17α-OHD21-羟化酶缺乏症21-hydroxylase deficiency, 21-OHD21三体综合征trisomy 21 syndrome3β-羟类固醇脱氢酶缺乏症3β-hydroxy steroid dehydrogenase deficiency, 3β-HSD Angelman综合征Angelman syndromeB组链球菌肺炎group B streptococcal pneumoniaDNA测序DNA sequencingEB病毒Epstein-Barr virus, EBVPrader-Willi综合征Prader-Willi syndromeTurner综合征Turner syndrome, TSX-连锁无丙种球蛋白血症X-linked a gammaglobuli anaemia, XLAX连锁显性遗传X-linked dominant inheritanceX连锁隐形遗传X-linked recessive inheritanceY连锁遗传Y-linked inheritance巴宾斯基征Babinski sign白肺white lung白血病leukemia伴中央颞区棘波的儿童良性癫痫benign childhood epilepsy with centro temporal spikes,BECT 苯丙氨酸phenylalanine,Phe苯丙酮尿症phenyl keton uria,PKU变态反应性曲霉菌病allergic aspergillosis病毒性脑炎viral encephalitis病毒性心肌炎viral myocarditis病理性黄疸pathologic jaundice产毒性大肠埃希菌enterotoxigenic E. coli, ETEC肠内营养支持enteral nutrition, EN肠套叠intussusception常见变异型免疫缺陷病common variable immunodeficiency, CVID常频机械通气conventional mechanical ventilation, CMV常染色体显性遗传autosomal dominant inheritance常染色体隐性遗传autosomal recessive inheritance成人疾病胎儿起源学说developmental original health and diseases, DOHaD持续气道正压通气continuous positive airway pressure, CPAP持续胎儿循环persistent fetal circulation充血性心力衰竭congestive heart failure川崎病Kawasaki disease, KD传染性单核细胞增多症infectious mononucleosis, IM串联质谱技术tandem mass spectrometry, MS/MS核磁共振技术magnetic resonance imaging, MRI促黄体生成素luteinizing hormone, LH促卵泡生成素follicle stimulating hormone, FSH促性腺激素释放激素gonadotropin releasing hormone, Gn-RH大于胎龄large for gestational带状疱疹herpes zoster丹佛发育筛查法Denver Development Screen Test, DDST胆道蛔虫症biliary ascariasis胆红素脑病bilirubin encephalopathy蛋白质-热能营养不良protein-energy malnutrition低出生体重low birth weight, LBW地方性先天性甲低endemic congenital hypothyroidism地中海贫血thalassemia癫痫epilepsy癫痫综合征epileptic syndrome电子计算机断层扫描computed tomography, CT动脉导管未闭patent ductus arteriosus, PDA鹅口疮thrush, oral candidiasis法洛四联症tetralogy of Fallot, TOF房间隔缺损atrial septal defect, ASD非胰岛素依赖性糖尿病noninsulin-dependent diabetes mellitus, NIDDM 肺大疱pneumatocele肺动脉瓣狭窄pulmonary stenosis, PS肺活量vital capacity肺脓肿lung abscess肺曲霉病pulmonary aspergillosis肺炎pneumonia肺炎链球菌肺炎Streptococcus pneumoniae pneumonia肺炎支原体肺炎Mycoplasma pneumoniae pneumonia肺隐球菌病pulmonary cryptococcosis风湿热rheumatic fever, RF腹泻病diarrhea肝豆状核变性hepatolenticular degeneration感染性肺炎infectious pneumonia感染性心内膜炎infective endocarditis ,IE高级生命支持advanced life support, ALS高频通气high-frequency ventilation, HFV革兰氏阴性杆菌肺炎Gram-negative bacillary pneumonia, GNBP膈疝diaphragmatic hernia弓形虫病toxoplasmosis宫内生长迟缓intrauterine growth restriction/retardation, IUGR 宫外生长迟缓extrauterine growth restriction/retardation,EUGR 钩虫病ancylostomiasis孤独症谱系障碍autistic spectrum disorders, ASD孤立性蛋白尿isolated proteinuria孤立性血尿isolated hematuria骨龄bone age光照疗法phototherapy过敏性紫癜anaphylactoid purpura过期产儿post-term infant海洋性贫血thalassemia核黄疸kernicterus呼吸道合胞病毒肺炎respiratory syncytial virus pneumonia呼吸窘迫综合征respiratory distress syndrome, RDS呼吸衰竭respiratory failure化脓性脑膜炎purulent meningitis换血疗法exchange transfusion活动消耗physical activity获得性免疫缺陷综合征acquired immunodeficiency syndrome, AIDS肌电图electro myo graphy, EMG基本生命支持basic life support, BLS基因组印记genomic imprinting吉兰-巴雷综合征Guillain-Barre syndrome, GBS急性非淋巴细胞白血病acute non-lymphocytic leukemia, ANLL急性感染性喉炎acute infectious laryngitis急性呼吸窘迫综合征acute respiratory distress syndrome, ARDS急性淋巴细胞白血病acute lymphoblastic leukemia, ALL急性上呼吸道感染acute upper respiratory infection, AURI急性肾衰竭acute renal failure, ARF急性肾小球肾炎acute glomerulonephritis, AGN急性粟粒性肺结核acute miliary tuberculosis of the lungs急性细菌性脑膜炎bacterial meningitis急性支气管炎acute bronchitis急性中毒acute poisoning脊髓灰质炎poliomyelitis继发性呼吸暂停secondary apnea继发性免疫缺陷病secondary immunodeficiency disease, SID继发性肾小球疾病secondary glomerular disease寄生虫病parasitic disease甲基丙二酸血症methylmalonic acidemia, MMA甲状腺激素thyroid hormone假肥大型肌营养不良pseudohypertrophic muscular dystrophy假丝酵母菌病candidiasis焦虑症anxiety disorder结核病tuberculosis, TB结核性脑膜炎tuberculous meningitis金黄色葡萄球菌肺炎Staphylococcal aureus pneumonia进行性肌营养不良progressive muscular dystrophy近端肾小管酸中毒proximal renal tubular acidosis, pRTA惊厥convulsion精氨酸加压素arginine vasopressin, AVP巨大儿macrosomia巨细胞病毒感染cytomegalovirus infection聚合酶链反应polymerase chain reaction, PCR抗利尿激素antidiuretic hormone, ADH抗生素相关性腹泻antibiotic-associated diarrhea, AAD可耐受最高摄入量tolerable upper intake level, UL克罗恩病Crohn's disease, CD克氏征Kernig sign空肠弯曲菌campylobacter jejuni口炎stomatitis溃疡性结肠炎ulcerative colitis, UC狼疮性肾炎lupus nephritis朗格汉斯细胞组织细胞增生症Langerhans cell histiocytosis, LCH类脂性先天性肾上腺皮质增生症congenital lipoid adrenal hyperplasia, CLAH流感病毒肺炎influenza pneumonia流行性腮腺炎mumps, epidemic parotitis麻疹measles慢性肺疾病chronic lung disease, CLD慢性肉芽肿病chronic granulomatous ,CGD毛玻璃样ground glass毛细支气管炎bronchiolitis弥散性血管内凝血disseminated intravascular coagulation, DIC觅食反射rooting reflex泌尿道感染urinary tract infection, UTI免疫immunity免疫功能低下immuno-compromise免疫缺陷病immunodeficiency disease, ID免疫性血小板减少症immune thrombocytopenic, ITP母乳性黄疸breast milk jaundice蛲虫病enterobiasis脑电图electro encepha lography, EEC脑干听觉诱发电位brainstem auditory evoked potential, BAEP脑实质出血intraparenchymal hemorrhage, IPH脑室扩大ventriculomegaly, VM脑室周围白质软化peri ventriculo megaly leukomalacia, PVL脑室脑室内出血intra ventricular hemorrhage, IVH脑室周围-脑室内出血periventricular-intraventricular hemorrhage, PVH-IVH 脑性瘫痪cerebral palsy年龄及发育进程问卷age&stages questionnaire, ASQ黏多糖贮积病mucopolysaccharidosis, MPS尿崩症diabetes insipideus, DI尿道炎urethritis脓毒性休克septic shock脓气胸pyopneumothorax脓胸empyema排泄消耗excreta疱疹性口腔炎herpetic stomatitis疱疹性咽峡炎herpangina胚胎期embryonic period皮肤黏膜隐球菌病mucocutaneous cryptococcosis平均需要量estimated average requirement, EAR膀胱炎cystitis期前收缩premature beat气相色谱-质谱技术gas chromatography mass spectrometry, GC/MS 潜伏结核感染latent tuberculosis infection青年成熟期发病型糖尿病maturity-onset diabetes of youth, MODY曲霉病aspergillosis全身性曲霉病disseminated aspergillosis缺铁性贫血iron deficiency anemia, IDA染色体病chromosomal disorders染色体核型分析karyotype热性惊厥febrile seizure, FS热性惊厥附加症febrile seizures plus, FS+人类巨细胞病毒human cytomegalovirus, HCMV人类免疫缺陷病毒human immunodeficiency virus, HIV溶血尿毒综合征hemolytic uremic syndrome,HUS溶血性贫血hemolytic anemia散发性先天性甲低sporadic congenital hypothyroidism沙门菌salmonella膳食营养素参考摄入量dietary reference intakes, DRIs深部真菌病deep mycosis肾病综合征nephrotic syndrome, NS肾小管酸中毒renal tubular acidosis, RTA肾小球滤过率glomerular filtration rate, GFR肾盂肾炎pyelonephritis生长激素growth hormone, GH生长激素缺乏症growth hormone deficiency, GHD生长激素释放激素抑制激素somatostatin, SRIH 或 GHIH生理性黄疸physiological jaundice湿肺wet lung湿疹、血小板减少伴免疫缺陷Wiskott-Aldrich syndrome, WAS十二指肠溃疡duodenal ulcer, DU食物特殊动力作用thermic effect of feeding, TEF适宜摄入量adequate intake, AI适于胎龄appropriate for gestational age, AGA室间隔缺损ventricular septal defect, VSD室性心动过速ventricular tachycardia噬血细胞性淋巴组织细胞增生症hemophagocytic lymphohistiocytosis, HLH噬血细胞综合征hemophagocytic syndrome, HPS手足口病hand, foot and mouth disease, HFMD水痘chickenpox, varicella水痘-带状疱疹病毒varicella-zoster virus, VZV睡眠障碍sleep disorder, SD胎儿期fetal period胎粪吸入综合征meconium aspiration syndrome, MAS胎龄gestational age, GA唐氏综合征Down syndrome, DS糖尿病diabetes mellitus, DM糖尿病母亲婴儿infant of diabetic mother, IDM糖原贮积症glycogen storage disease, GSD特发性矮身材idiopathic short stature, ISS特发性血小板减少性紫癜idiopathic thrombocytopenie purpura, ITP体外膜肺氧合extracorporeal membrane oxygenation, EC-MO图片词汇测试Peabody Picture Vocabulary Test, PPVT推荐摄入量recommended nutrient intake, RNI完全性大动脉换位transposition of the great arteries, TGA晚期代谢性酸中毒late metabolic acidosis晚期新生儿late newborn微阵列比较基因组杂交技术array-based comparative genomic hybridization围生期perinatal period未定型结肠炎indeterminate colitis, IC胃溃疡gastric ulcer, GU胃食管反流gastroesophageal reflux, GER胃炎gastritis握持反射grasp reflex无创性产前筛查non-invasive prenatal test, NIPT无症状性菌尿asymptomatic bacteriuria物质滥用substance abuse吸吮反射sucking reflex先天性非球形细胞性溶血性贫血congenital non spherocytic hemolytic anemia, CNSHA 先天性肥厚性幽门狭窄congenital hypertrophic pyloricstenosis先天性高胰岛素血症congenital hyperinsulinism, CHI先天性甲状腺功能减退congenital hypothyroidism先天性巨结肠congenital megacolon先天性梅毒congenital syphilis先天性肾上腺皮质增生症congenital adrenal hyperplasia, CAH先天性心脏病congenital heart disease, CHD线粒体疾病mitochondrial diseases腺病毒肺炎adenovirus pneumonia消化性溃疡peptic ulcer小脑出血cerebellar hemorrhage, CH小于胎龄small for gestational age, SGA心肺复苏cardiopulmonary resuscitation, CPR心理社会发育障碍disturbed psycho social development心律失常cardiac ar rhythmia心内膜弹力纤维增生症endocardial fibro elas tosis新生儿neonate, newborn新生儿败血症neonatal septicemia新生儿持续肺动脉高压persistent pulmonary hypertension of newborn, PPHN 新生儿出血症hemorrhagic disease of the newborn, HDN新生儿低血糖neonatal hypoglycemia新生儿高胆红素血症neonatal hyperbilirubinemia新生儿高血糖neonatal hyperglycemia新生儿坏死性小肠结肠炎neonatal necrotizing enterocolitis, NEC新生儿黄疸neonatal jaundice新生儿颅内出血intracranial hemorrhage of the newborn新生儿破伤风neonatal tetanus新生儿期neonatal period新生儿缺氧缺血性脑病hypoxic-ischemic encephalopathy, HIE新生儿溶血病hemolytic disease of newborn, HDN新生儿糖尿病neonatal diabetes mellitus, NDM新生儿细菌性败血症neonatal bacterial septicemia新生儿衣原体感染chlamydial infection新生儿暂时性呼吸困难transitory tachy pnea of newborn, TTN新生儿窒息asphyxia of newborn新生儿重症监护室neonatal intensive care unit, NICU性早熟sexual precocity学龄期school-age period学龄前期preschool period血尿hematuria血友病hemophilia咽结膜热pharyngo-conjunctival fever严重联合免疫缺陷病severe combined immunodeficiency, SCID炎症性肠病inflammatory bowel disease, IBD耶尔森菌Yersinia衣原体肺炎chlamydial pneumonia胰岛素样生长因子insulin-like growth factor, IGF胰岛素依赖性糖尿病insulin dependent diabetes mellitus, IDDM遗传代谢病inborn errors of metabolism, IEM遗传性疾病genetic disease遗传性球形红细胞增多症hereditary spherocytosis, HS遗传性肾小球疾病hereditary glomerular disease遗传性生长激素缺乏HGHD乙肝病毒相关性肾炎HBV-associated glomerulonephritis抑郁症depression隐球菌病cryptococcosis隐球菌性脑膜炎cryptococcal meningitis婴儿胆汁淤积症infantile cholestasis婴儿痉挛infantile spasm婴儿期infant period荧光原位杂交fluorescence in situ hybridization, FISH营养nutrition营养不良malnutrition营养低下undernutrition营养素nutrients营养性巨幼细胞性贫血nutritional megaloblastic anemia营养性维生素D缺乏性佝偻病rickets of vitamin D deficiency硬膜下出血subdural hemorrhage, SDH拥抱反射Moro reflex幽门螺杆菌Helicobacter pylori, Hp幼儿期toddler period幼年特发性关节炎juvenile idiopathic arthritis, JIA原发型肺结核primary pulmonary tuberculosis原发性呼吸暂停primary apnea原发性免疫缺陷病primary immunodeficiency, PID原发性肾小球疾病primary glomerular diseases原发性蛛网膜下腔出血primary subarachnoid hemorrhage, SAH远端肾小管酸中毒distal renal tubular acidosis, dRTA早产儿preterm infant早产儿视网膜病retinopathy of prematurity, ROP早期新生儿early newborn阵发性室上性心动过速paroxysmal supraventricular tachycardia正常出生体重normal birth weight, NBW正常足月儿normal term infant症状性泌尿道感染symptomatic urinary tract infection支气管充气征air bronchogram支气管肺发育不良bronchopulmonary dysplasia, BPD支气管肺炎bronchopneumonia支气管扩张bronchiectasis支气管哮喘bronchial asthma致病性大肠埃希菌enteropathogenic E.coli重症肌无力myasthenia gravis, MG注意缺陷多动障碍attention-deficit hyperactivity disorder, ADHD 紫癜性肾炎purpura nephritis足月儿full term infant。

21羟化酶基因检测流程英文回答：The process of 21-hydroxylase gene testing involves several steps. First, a blood sample is collected from the individual undergoing the test. This sample is then sent to a laboratory for analysis. In the laboratory, the DNA is extracted from the blood sample and specific regions of the 21-hydroxylase gene are amplified using a technique called polymerase chain reaction (PCR).Once the gene regions of interest are amplified, they are sequenced to identify any potential mutations or variations. This sequencing can be done using various methods, such as Sanger sequencing or next-generation sequencing (NGS). The obtained sequence data is then compared to a reference sequence to determine if there are any differences.If a mutation or variation is identified, furtheranalysis may be performed to assess its impact on the function of the 21-hydroxylase enzyme. This can involve in vitro studies to determine enzyme activity or computational predictions to evaluate the potential consequences of the mutation.Finally, the results of the gene testing areinterpreted and reported to the healthcare provider or genetic counselor who ordered the test. The interpretation includes information on the identified mutations or variations, their potential effects on enzyme function, and the associated risk of developing 21-hydroxylase deficiency.中文回答：21羟化酶基因检测流程包括几个步骤。

陕西儿科模拟题2021年(37)(总分90.76, 做题时间120分钟)多项选择题1.新生儿先天性甲状腺功能减退症的临床特点是( )SSS_MULTI_SELA皮肤出现斑纹及硬肿B生理性黄疸延迟不退C反应迟钝，常处于睡眠状态D体温低，哭声低E腹胀、顽固性便秘分值: 1答案:A,B,C,D,E2.哪些酶缺陷可导致苯丙酮尿症( )SSS_MULTI_SELA鸟苷三磷酸环化水合酶B二氢生物蝶呤还原酶C苯丙氨酸羟化酶D碱性磷酸酶E酪氨酸酶分值: 1.32答案:A,B,C3.儿童糖尿病的治疗包括( )SSS_MULTI_SELA饮食管理BC加强宣教D药物的应用E定期监测血糖分值: 1.32答案:A,B,C,D,E儿童糖尿病的治疗是一综合治疗的过程，共包括5个方面：药物的应用、饮食管理、适当运动、加强宣教及定期监测血糖。

4.在下列哪些情况下应考虑新生儿先天性甲状腺功能减退症的可能( )SSS_MULTI_SELA新生儿黄疸持久不退B腹胀、便秘C反应迟钝、喂养困难D肝脾肿大E发热、腹泻分值: 1.32答案:A,B,C5.先天性甲状腺功能减退症的典型临床表现是( )SSS_MULTI_SELA特殊面容和体态B智能发育落后C生理功能低下，精神、食欲差D肌张力增强、痉挛性瘫痪E肝脾肿大分值: 1.32A1/A2题型1.哪项实验室检查结果不支持中枢性尿崩症( )SSS_SINGLE_SELA尿比重≤1.005B尿液渗透压＜200mmol／LC血钠＞145mmol／LD血渗透压＜290mmol／LE禁水试验中，持续排出低渗尿分值: 1.32答案:D2.筛查新生儿先天性甲状腺功能减低症最常见的方法是SSS_SINGLE_SELATRH刺激试验B血清T4、TSHC干血滴纸片测定TSHD骨龄测定E放射性核素检查分值: 1.32答案:C3.儿童糖尿病以下列哪项最多见SSS_SINGLE_SELA非糖尿病性葡萄糖尿症B胰岛素依赖型糖尿病C非胰岛素依赖型糖尿病D继发性糖尿病E婴儿暂时性糖尿病分值: 1.32答案:B4.9个月男婴，生后常便秘、腹胀、少哭。

先天性肾上腺皮质增生症的诊治与管理摘要先天性肾上腺皮质增生症（CAH）是由于肾上腺类固醇激素生物合成过程某种酶先天性缺陷导致的常染色体隐性遗传性病。

90%~95%的CAH病例为21-羟化酶缺乏症。

临床表现谱系广泛复杂，主要为肾上腺皮质功能减退，部分患儿伴有电解质紊乱及性发育异常。

诊断需依据临床表现、内分泌激素检查综合判断，基因检测是确诊CAH的金标准，新生儿CAH筛查有助于早期诊断。

治疗方法主要为皮质醇（包括糖皮质激素和盐皮质激素）的替代治疗，治疗过程中需定期检测和评估。

先天性肾上腺皮质增生症为常染色体隐性遗传性病，由于肾上腺类固醇激素生物合成过程某种酶如（如21-羟化酶、11β-羟化酶、3β-羟基脱氢酶）的先天性缺陷，导致肾上腺皮质功能减退，部分患儿伴有电解质紊乱及性发育异常。

90%~95%的CAH病例是CYP21A2基因变异引起的21-羟化酶缺乏症（21-hydroxylase deficiency，21-OHD）。

欧美国家患病率为1/（14 000~18 000）；我国于2007年开始新生儿筛查，患病率为1/12 200。

随着国内外新生儿CAH筛查的开展，大大降低了该病新生期的死亡率。

CAH的诊治与管理极具复杂多元化，包括产前诊断、新生儿筛查、婴儿期肾上腺危象的预防和处理、儿童期为保证正常线性生长的治疗、青春期为保证正常青春发育和远期生殖能力的处理、远期代谢合并症的预防和监控、心理和生命质量的干预，几乎贯穿整个生命周期。

本文主要论述21-OHD的诊治，以提高广大基层医师对该病的早期识别和规范治疗。

一、CAH的病理机制与所有酶缺陷的遗传代谢病一样，不同酶缺陷的CAH将发生相应类固醇激素（终产物）的缺乏和所缺陷酶的相应阶段的前体（中间代谢产物）堆积和旁路代谢亢进所致产物增多，引起不同的症状。

CAH 是由于代谢过程中某种酶先天缺陷引起肾上腺皮质束状带合成的皮质醇完全或部分缺乏，经下丘脑-垂体-肾上腺轴反馈调节，引起促肾上腺皮质激素释放激素和促肾上腺皮质激素分泌增加，导致肾上腺皮质增生及其中间代谢产物和雄激素的过度生成。