Abstract:
:Congenital adrenal hyperplasia describes a group of inherited autosomal recessive disorders characterized by an enzymatic defect in cortisol biosynthesis, compensatory increases in corticotropin secretion, and adrenocortical hyperplasia. 21-Hydroxylase deficiency is responsible for more than 95% of cases and is one of the most common known autosomal recessive disorders. The classic or severe type presents in the newborn period or early childhood with virilization and adrenal insufficiency, with or without salt loss; the mild or nonclassic form presents in late childhood or early adulthood with mild hyperandrogenism and is an important cause of masculinization and infertility in women. This wide range of phenotypic expression is mostly explained by genetic variation, although genotype-phenotype discrepancies have been described. Reproductive, metabolic, and other comorbid conditions, including risk for tumors, are currently under investigation in both forms of the disease. A high proportion of patients with adrenal incidentalomas may be homozygous or heterozygous for 21-hydroxylase deficiency. Women with congenital adrenal hyperplasia often develop the polycystic ovary syndrome. Ectopic adrenal rest tissue is often found in the testes of men with congenital adrenal hyperplasia; characteristic clinical and radiologic findings help differentiate this tissue from other tumors. Levels of corticotropin-releasing hormone are elevated in patients with depression and anxiety and are expected to be elevated in patients with congenital adrenal hyperplasia; it is unknown whether patients with 21-hydroxylase deficiency have an increased incidence of these psychiatric disorders. Abnormalities in both the structure and function of the adrenal medulla have been shown in patients with classic congenital adrenal hyperplasia, and the degree of adrenomedullary impairment may be a biomarker of disease severity. The 21-hydroxylase-deficient mouse has provided a useful model with which to examine disease mechanisms and test new therapeutic interventions in classic disease, including gene therapy. Treatment of this condition is intended to reduce excessive corticotropin secretion and replace both glucocorticoids and mineralocorticoids. However, clinical management is often complicated by inadequately treated hyperandrogenism, iatrogenic hypercortisolism, or both. New treatment approaches currently under investigation include combination therapy to block androgen action and inhibit estrogen production, and bilateral adrenalectomy in the most severely affected patients. Other approaches, which are in a preclinical stage of investigation, include treatment with a corticotropin-releasing hormone antagonist and gene therapy.
journal_name
Ann Intern Medjournal_title
Annals of internal medicineauthors
Merke DP,Bornstein SR,Avila NA,Chrousos GPdoi
10.7326/0003-4819-136-4-200202190-00012subject
Has Abstractpub_date
2002-02-19 00:00:00pages
320-34issue
4eissn
0003-4819issn
1539-3704pii
200202190-00012journal_volume
136pub_type
共识发展会议,杂志文章,评审abstract:PURPOSE:To review evidence about thyroxine suppressive therapy in patients with thyroid nodules, including the clinical importance and natural history of nodules and the effects and potential side effects of thyroxine therapy. DATA SOURCES:English-language articles published from 1986 to December 1996 were identified ...
journal_title:Annals of internal medicine
pub_type: 杂志文章,评审
doi:10.7326/0003-4819-128-5-199803010-00008
更新日期:1998-03-01 00:00:00
abstract::The indications for treating patients with subclinical hypothyroidism (normal serum thyroxine and free thyroxine levels, but elevated serum thyrotrophin levels) are poorly defined. In this study, 33 patients with subclinical hypothyroidism were randomly assigned in a double-blind manner to receive placebo or L-thyroxi...
journal_title:Annals of internal medicine
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.7326/0003-4819-101-1-18
更新日期:1984-07-01 00:00:00
abstract:BACKGROUND:New tests, such as magnetic resonance imaging (MRI) and electron-beam computed tomography (CT), are being developed for the diagnosis of coronary artery disease. OBJECTIVE:To determine the conditions that a new test must meet to be a cost-effective alternative to established imaging tests. DESIGN:Decision ...
journal_title:Annals of internal medicine
pub_type: 杂志文章,meta分析
doi:10.7326/0003-4819-131-9-199911020-00008
更新日期:1999-11-02 00:00:00
abstract:BACKGROUND:Pay-for-performance (P4P) is increasingly touted as a means to improve health care quality. PURPOSE:To evaluate the effect of P4P remuneration targeting individual health care providers. DATA SOURCES:MEDLINE, EMBASE, Cochrane Library, OpenSIGLE, Canadian Evaluation Society Unpublished Literature Bank, New ...
journal_title:Annals of internal medicine
pub_type: 杂志文章,评审
doi:10.7326/0003-4819-157-12-201212180-00009
更新日期:2012-12-18 00:00:00
abstract::Position statements opposing legalization of physician-assisted suicide by organizations such as the American College of Physicians-American Society of Internal Medicine rightly emphasize that palliative care should be the standard of care for the dying, and that the inadequacies that exist in its delivery should be r...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-138-3-200302040-00013
更新日期:2003-02-04 00:00:00
abstract:PURPOSE:To compare the efficacy, safety, and cost-effectiveness of low-molecular-weight heparin with standard heparin for the prevention of deep vein thrombosis after total hip arthroplasty. DATA IDENTIFICATION:Studies were identified by MEDLINE search and review of bibliographies of retrieved articles. Hospital resou...
journal_title:Annals of internal medicine
pub_type: 杂志文章,meta分析
doi:10.7326/0003-4819-119-11-199312010-00008
更新日期:1993-12-01 00:00:00
abstract::Breast cancer is the major cancer killer of women in the United States. Recent advances in therapy promise more effective control of this illness. The development of hormone receptor analysis permits us to better understand the mechanisms of action of steroid and peptide hormones and increases the likelihood of using ...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-86-6-784
更新日期:1977-06-01 00:00:00
abstract:BACKGROUND:Visits to physicians for genital herpes simplex virus (HSV) infection continue to increase. Most patients with symptomatic infections have recurrences, but no studies of the long-term clinical course of genital herpes are available. OBJECTIVE:To determine whether the frequency of HSV recurrences decreases o...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-131-1-199907060-00004
更新日期:1999-07-06 00:00:00
abstract:BACKGROUND:Estimates of risk for radiation-induced breast cancer from mammography screening have not considered variation in dose exposure or diagnostic work-up after abnormal screening results. OBJECTIVE:To estimate distributions of radiation-induced breast cancer incidence and mortality from digital mammography scre...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/M15-1241
更新日期:2016-02-16 00:00:00
abstract::Effective health care is a core determinant of successful aging, and medications are one of the most important therapeutic tools of health care providers. Most older adults use at least one prescription drug. Costs for these drugs are a substantial out-of-pocket expense for Medicare beneficiaries, and low-income older...
journal_title:Annals of internal medicine
pub_type: 杂志文章,评审
doi:10.7326/0003-4819-139-5_part_2-200309021-00009
更新日期:2003-09-02 00:00:00
abstract::[Figure: see text]. ...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/M20-1897
更新日期:2020-05-19 00:00:00
abstract:DESCRIPTION:New recommendation from the U.S. Preventive Services Task Force (USPSTF) on the use of nontraditional, or novel, risk factors in assessing the coronary heart disease (CHD) risk of asymptomatic persons. METHODS:Systematic reviews were conducted of literature since 1996 on 9 proposed nontraditional markers o...
journal_title:Annals of internal medicine
pub_type: 杂志文章,实务指引
doi:10.7326/0003-4819-151-7-200910060-00008
更新日期:2009-10-06 00:00:00
abstract:BACKGROUND:Dietary protein has long been thought to play a role in the progression of chronic renal disease, but clinical trials to date have not consistently shown that dietary protein restriction is beneficial. PURPOSE:To use meta-analysis to assess the efficacy of dietary protein restriction in previously published...
journal_title:Annals of internal medicine
pub_type: 杂志文章,meta分析
doi:10.7326/0003-4819-124-7-199604010-00002
更新日期:1996-04-01 00:00:00
abstract:BACKGROUND:Many constituents of fruits and vegetables may reduce the risk for coronary heart disease, but data on the relationship between fruit and vegetable consumption and risk for coronary heart disease are sparse. OBJECTIVE:To evaluate the association of fruit and vegetable consumption with risk for coronary hear...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-134-12-200106190-00010
更新日期:2001-06-19 00:00:00
abstract:BACKGROUND:HIV-infected patients with sustained immunologic improvement from antiretroviral therapy may be able to discontinue chemoprophylaxis against Pneumocystis carinii pneumonia (PCP). OBJECTIVE:To compare PCP incidence in HIV-infected patients who had sustained CD4+ lymphocyte counts greater than 200 cells/mm3 a...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-132-3-200002010-00005
更新日期:2000-02-01 00:00:00
abstract::The term "medical necessity" is used ubiquitously in health care, but its meaning and implementation vary substantially among providers, payers, and patients. This ambiguity has led some to suggest that cost-effectiveness be used as a basis for decision rules. This paper presents an analytical framework that is famili...
journal_title:Annals of internal medicine
pub_type: 杂志文章,评审
doi:10.7326/0003-4819-126-2-199701150-00011
更新日期:1997-01-15 00:00:00
abstract::Fifty-three consecutive patients with inferior myocardial infarction were evaluated prospectively, by physical examination and right heart catheterization within 36 hours of the onset of symptoms, to determine whether physical findings can separate such patients into those with and without associated right ventricular...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-99-5-608
更新日期:1983-11-01 00:00:00
abstract::Cystic fibrosis was diagnosed after age 13 in 25 patients. All had an elevated sweat chloride and either a sibling with cystic fibrosis or typical pulmonary infection or digestive symptoms caused by exocrine pancreatic deficiency. Fourteen had long-standing pulmonary or digestive symptoms. In contrast, four of eight p...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-87-2-188
更新日期:1977-08-01 00:00:00
abstract::Common variable immunodeficiency (CVI) is a heterogenous immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections, and various immunologic abnormalities. In addition to recurrent infections, patients with this syndrome also have an increased incidence of autoimmune disease and m...
journal_title:Annals of internal medicine
pub_type: 杂志文章,评审
doi:10.7326/0003-4819-118-9-199305010-00011
更新日期:1993-05-01 00:00:00
abstract:BACKGROUND:Patients with reduced left ventricular function and ventricular enlargement after myocardial infarction are at significantly greater risk for congestive heart failure and death. Nevertheless, recovery of ventricular function occurs in a significant proportion of patients after myocardial infarction, and mode...
journal_title:Annals of internal medicine
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.7326/0003-4819-134-6-200103200-00009
更新日期:2001-03-20 00:00:00
abstract:BACKGROUND:Exercise stress testing in patients with abdominal aortic aneurysms may cause enlargement or rupture of aneurysms. OBJECTIVE:To evaluate the safety of treadmill exercise stress testing in patients with abdominal aortic aneurysms. DESIGN:Retrospective descriptive study. SETTING:Tertiary care center. PATIE...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-129-8-199810150-00008
更新日期:1998-10-15 00:00:00
abstract:Background:Triplex vaccine was developed to enhance cytomegalovirus (CMV)-specific T cells and prevent CMV reactivation early after hematopoietic stem cell transplant (HCT). Objective:To determine the safety and efficacy of Triplex. Design:First-in-patient, phase 2 trial. (ClinicalTrials.gov: NCT02506933). Setting:3...
journal_title:Annals of internal medicine
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.7326/M19-2511
更新日期:2020-03-03 00:00:00
abstract:BACKGROUND:The comparative effectiveness of rheumatoid arthritis therapies is uncertain. PURPOSE:To compare the benefits and harms of disease-modifying antirheumatic drugs (DMARDs) for adults with rheumatoid arthritis. DATA SOURCES:Records limited to the English language and studies of adults were identified by using...
journal_title:Annals of internal medicine
pub_type: 杂志文章,评审
doi:10.7326/0003-4819-148-2-200801150-00192
更新日期:2008-01-15 00:00:00
abstract::The Federated Council for Internal Medicine (FCIM) comprises the American Board of Internal Medicine, American College of Physicians, American Society of Internal Medicine, Association of Professors of Medicine, Association of Program Directors in Internal Medicine, and the Society of General Internal Medicine. The Co...
journal_title:Annals of internal medicine
pub_type: 指南,杂志文章
doi:10.7326/0003-4819-117-9-778
更新日期:1992-11-01 00:00:00
abstract::Large-scale, epidemic transmission of tuberculosis to patients, nonprofessional staff, nurses, and physicians has been documented recently in hospitals, clinics, acquired immunodeficiency syndrome (AIDS) residencies, and correctional facilities. Prominent factors in these outbreaks have included human immunodeficiency...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-117-3-251
更新日期:1992-08-01 00:00:00
abstract:Background:High-risk human papillomavirus (hrHPV) testing to triage women with minor cervical lesions generates many referrals. Purpose:To evaluate the accuracy of genotyping for HPV types 16 and 18 and its utility as a second triage step after hrHPV testing in women with minor cervical lesions. Data Sources:Searches...
journal_title:Annals of internal medicine
pub_type: 杂志文章,meta分析,评审
doi:10.7326/M15-2735
更新日期:2017-01-17 00:00:00
abstract::In addition to gonorrhea and syphilis, both of which may develop primarily at anorectal or pharyngeal sites, a number of conditions, including Neisseria meningitidis urethritis, nonspecific urethritis, anorectal herpes, condyloma acuminatum, amebiasis, giardiasis, shigellosis, typhoid fever, enterobiasis, and hepatiti...
journal_title:Annals of internal medicine
pub_type: 杂志文章,评审
doi:10.7326/0003-4819-92-6-805
更新日期:1980-06-01 00:00:00
abstract::The Hospital Readmissions Reduction Program (HRRP) has penalized hospitals with higher 30-day readmission rates more than $3 billion to date. Clinicians and policy experts have raised concerns that the 30-day readmission measure used in this program provides an incomplete picture of performance because it does not cap...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/M20-3486
更新日期:2021-01-01 00:00:00
abstract::Cost-effectiveness analysis and other forms of decision analysis are becoming more common in the medical literature and are increasingly influential in the development of health policy. Nevertheless, many clinicians find it difficult to apply policies developed from these analyses to individual encounters with patient...
journal_title:Annals of internal medicine
pub_type: 杂志文章,评审
doi:10.7326/0003-4819-122-11-199506010-00007
更新日期:1995-06-01 00:00:00
abstract::Important historical changes have occurred both in the content of the periodic health examination and in the legitimacy with which this examination has been viewed. These changes reflect fundamental shifts in the objectives of the examination and in the concerns of its advocates, the most prominent of whom have been p...
journal_title:Annals of internal medicine
pub_type: 历史文章,杂志文章
doi:10.7326/0003-4819-127-10-199711150-00010
更新日期:1997-11-15 00:00:00