Abstract：
:Recent advances in the genetics of the family of 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) enzymes have helped in the understanding of the molecular basis and hormonal phenotype of bona fide 3 beta-HSD deficiency congenital adrenal hyperplasia (CAH). This article revisits the clinical spectra of 3 beta-HSD deficiency disorders, pathophysiology of 3 beta-HSD deficiency CAH, and updates genotype findings and diagnostic hormonal criteria for bona fide classic and nonclassic 3 beta-HSD deficiency CAH. The delta-5 steroid abnormality for the nonclassic 3 beta-HSD deficiency CAH, proven by genotype study, is substantially greater than the hormonal criteria for the disorder published before the advent of molecular information on the gene encoding adrenals and gonads in humans. In hyperandrogenic children and women, the pathogenic mechanism of a subtle abnormality in adrenal 3 beta-HSD activity, determined by modestly elevated ACTH stimulated delta-5 steroid levels, which led to the diagnosis of mild nonclassic 3 beta-HSD deficiency in the past, is outside of the type II 3 beta-HSD gene which encodes adrenals and gonads in humans and remains to be further explored.
journal_name
Endocrinol Metab Clin North Amjournal_title
Endocrinology and metabolism clinics of North Americaauthors
Pang Sdoi
10.1016/s0889-8529(08)70020-3subject
Has Abstractpub_date
2001-03-01 00:00:00pages
81-99, vi-viiissue
1eissn
0889-8529issn
1558-4410pii
S0889-8529(08)70020-3journal_volume
30pub_type
杂志文章,评审abstract：:Medullary thyroid carcinoma (MTC) is a rare type of thyroid cancer, demonstrating variable behavior from indolent disease to highly aggressive, progressive disease. There are distinguishing phenotypic features of sporadic and hereditary MTC. Activation or overexpression of cell surface receptors and up-regulation of i...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2014.02.004
更新日期：2014-06-01 00:00:00
abstract：:The gene causing MEN 1 has been localized to chromosome 11, band 11q13, by tumor deletion mapping studies and by family linkage studies. Molecular genetic markers flanking the MEN 1 gene have been defined, and they are of use in identifying disease gene carriers in a family. These individuals, who are at a high risk o...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：
更新日期：1994-03-01 00:00:00
abstract：:Low-density lipoprotein cholesterol (LDL-C) level currently is used as the major determinant of lipid- and lipoprotein-associated risk for ischemic cardiovascular disease, and varying levels have become the standard goals of lipid-altering treatment. The predictive value of the LDL-C cholesterol level, however, often ...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2008.11.008
更新日期：2009-03-01 00:00:00
abstract：:A wide variety of medications, devices, and surgical interventions are available to patients who have ED. These range from first-line oral agents to second-line therapy with injections or vacuum devices to third-line options, such as penile prosthesis implantation. In this article, we cover available treatments for er...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2007.02.001
更新日期：2007-06-01 00:00:00
abstract：:To make a diagnosis of insulinoma, one must consider it. Neuroglycopenic symptoms are the most prominent and convincing, and the combination of hypoglycemia and endogenous hyperinsulinemia are diagnostic of insulinoma. A glucose level of approximately 40 mg/dL with a concomitant insulin level of 6 microU/mL, a C-pepti...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/s0889-8529(05)70087-6
更新日期：1999-09-01 00:00:00
abstract：:This article describes the technical aspects and the clinical results of conventional radiotherapy and modern stereotactic radiotherapy for pituitary adenomas. Systematic review of the published literature provides a factual basis for the comparison and the selection of appropriate radiation technique in patients who ...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2007.10.005
更新日期：2008-03-01 00:00:00
abstract：:Insulin-dependent diabetes mellitus is associated with a growing number of immune abnormalities. At the time of clinical onset, most patients developing the disease as children or young adults have autoantibodies reactive with islet beta cells. Current autoantibody markers for IDDM are not sufficient to predict the di...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：
更新日期：1991-09-01 00:00:00
abstract：:Glucocorticoid-remediable aldosteronism (GRA) is a hereditary form of primary hyperaldosteronism and the most common monogenic cause of hypertension. A chimeric gene duplication leads to ectopic aldosterone synthase activity in the cortisol-producing zona fasciculata of the adrenal cortex, under the regulation of adre...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章
doi：10.1016/j.ecl.2011.01.012
更新日期：2011-06-01 00:00:00
abstract：:Although biotechnology has provided physicians with essentially unlimited supplies of growth hormone (GH), there are currently only a few clear-cut indications for exogenous GH therapy. Data now support the use of GH in the treatment of children with GH deficiency and short girls with Turner syndrome. Tantalizing prel...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：
更新日期：1992-09-01 00:00:00
abstract：:Osteoporosis is prevalent in transplant recipients and is related to pre- and post-transplantation factors. Low bone density and fractures may antedate transplantation, related to traditional risk factors for osteoporosis, effects of chronic illness, and end-stage organ failure and its therapy, on the skeleton. Bone l...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2007.07.008
更新日期：2007-12-01 00:00:00
abstract：:Morbid obesity has reached epidemic proportions in the United States. Unfortunately, medical interventions have been largely ineffective in this growing population. Currently bariatric surgery is the most effective intervention in managing morbid obesity and its comorbidities. As more patients become eligible for and ...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/s0889-8529(03)00002-1
更新日期：2003-06-01 00:00:00
abstract：:The development of vaccines is arguably the most significant achievement in medicine to date. The practice of innoculation with the fluid from a sore to protect from a disease actually dates back to ancient China; however, with the introduction of Jenner's smallpox vaccine, and greater understanding of the immune syst...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/s0889-8529(01)00021-4
更新日期：2002-06-01 00:00:00
abstract：:In summary, patients who will remain on glucocorticoids for more than a few weeks are clearly at risk for osteoporosis. A list of therapeutic strategies is provided in Table 2. While our therapy remains inadequate at this time, newer agents are on the horizon. In the near future, it may be possible to recommend specif...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：
更新日期：1994-09-01 00:00:00
abstract：:Urinary stone disease is the only clinical presentation in patients with cystinuria. Two genes have been associated with type I (SLC3A1) and non-type I (SLC7A9) cystinuria and multiple mutations of these genes have been identified. The type I form is completely recessive while the non-type I form is incompletely reces...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/s0889-8529(02)00054-3
更新日期：2002-12-01 00:00:00
abstract：:Adrenocortical carcinoma (ACC) is a rare and aggressive tumor. ACC may be associated with different syndromes of hormone excess, most frequently Cushing's syndrome with or without hypersecretion of androgens. Recent data suggest that cortisol excess is a negative prognostic factor in advanced and localized ACC. Surger...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2018.02.003
更新日期：2018-06-01 00:00:00
abstract：:Only two drugs are currently approved for long-term use in the treatment of obesity and four others for short-term use. Evaluating the risk-benefit profile is an essential first step. For individuals who have a low body mass index for whom the risk is small, the risk profile must make the drug acceptable for almost ev...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2008.08.004
更新日期：2008-12-01 00:00:00
abstract：:The presence of vitamin D receptors in diverse tissues like immune cells, beta-cells in the pancreas, and cardiac myocytes has prompted research to evaluate the impact of vitamin D deficiency on the occurrence of immune diseases, diabetes, and cardiovascular disease (CVD). The expression of receptors not only in norma...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2012.05.004
更新日期：2012-09-01 00:00:00
abstract：:Adrenal disorders may manifest during pregnancy de novo, or before pregnancy undiagnosed or diagnosed and treated. Adrenal disorders may present as hormonal hypofunction or hyperfunction, or with mass effects or other nonendocrine effects. Pregnancy presents special problems in the evaluation of the hypothalamic-pitui...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章
doi：10.1016/j.ecl.2011.09.001
更新日期：2011-12-01 00:00:00
abstract：:The actions of the vitamin D hormone 1,25-dihydroxyvitamin D(3) (1,25(OH)(2)D(3)) are mediated by the vitamin D receptor (VDR), a ligand-activated transcription factor that functions to control gene expression. After ligand activation, the VDR binds directly to specific sequences located near promoters and recruits a ...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2010.02.007
更新日期：2010-06-01 00:00:00
abstract：:Calcitriol (1,25-dihydroxyvitamin D(3)), the hormonally active form of vitamin D, exerts growth inhibitory and prodifferentiating effects on many malignant cells and retards tumor growth in animal models. Calcitriol is being evaluated as an anticancer agent in several human cancers. The mechanisms underlying the antic...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2010.02.011
更新日期：2010-06-01 00:00:00
abstract：:The pathogenesis of atherosclerosis in human immunodeficiency virus (HIV)-infected individuals is incompletely understood and appears to be multifactorial. Proatherogenic changes in blood and tissue lipids are associated with an increased risk of cardiovascular disease among HIV-infected subjects, and these changes ma...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2014.06.003
更新日期：2014-09-01 00:00:00
abstract：:Trabecular bone score (TBS) is a novel method that assesses skeletal texture from spine dual-energy X-ray absorptiometry (DXA) images. TBS improves fracture-risk prediction beyond that provided by DXA bone mineral density (BMD) and clinical risk factors, and can be incorporated to the Word Health Organization Fracture...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2016.09.005
更新日期：2017-03-01 00:00:00
abstract：:Parathyroid hormone (PTH) is the major secretory product of the parathyroid glands, and in hypocalcemic conditions, can enhance renal calcium reabsorption, increase active vitamin D production to increase intestinal calcium absorption, and mobilize calcium from bone by increasing turnover, mainly but not exclusively i...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2018.07.003
更新日期：2018-12-01 00:00:00
abstract：:Somatostatin receptor ligands (octreotide and lanreotide) are currently first-line pharmacotherapy for patients with acromegaly in whom surgery fails to control the disease or cannot be considered. The efficacy of a new pan somatostatin receptor ligand, pasireotide, has been investigated as a potential treatment of ac...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2014.10.004
更新日期：2015-03-01 00:00:00
abstract：:In adults, GHD is a clinical syndrome that occurs in patients with pituitary or hypothalamic disease. It may be asymptomatic or present with relatively nonspecific constitutional symptoms. Most patients have abnormal body composition, consisting of increased fat mass and decreased lean mass. Life expectancy is signifi...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/s0889-8529(05)70201-2
更新日期：2001-09-01 00:00:00
abstract：:Prostate cancer is the most frequent cancer in men. A discovery of major importance in the endocrinology of prostate cancer is that the testes contribute only 60% of total androgens in adult men; the remaining 40% are synthesized in peripheral tissues, including the normal and cancerous prostate, from inactive androge...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：
更新日期：1991-12-01 00:00:00
abstract：:Specific lesions of the growth hormone (GH)/insulin-like growth factor (IGF) axis have been identified in humans, each of which has distinctive auxologic and biochemical features. Measures of circulating IGF-I are useful in diagnosing growth disorders in childhood and in evaluating response to GH therapy. Recombinant ...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2012.04.010
更新日期：2012-06-01 00:00:00
abstract：:The study of genetic syndromes associated with adrenocortical tumors (Beckwith-Wiedemann, Li-Fraumeni, McCune-Albright, Carney, and multiple endocrine neoplasia type 1) has shed light on the molecular basis of tumorigenesis. Abnormalities at the 11p15 locus appear as crucial and frequent events found specifically in m...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/s0889-8529(05)70112-2
更新日期：2000-03-01 00:00:00
abstract：:A small abut important subset of patients with differentiated thyroid cancer will die of disease. Our approach to therapy treats almost all patients similarly, with aggressive surgery and I-131 therapy. Meticulous follow-up should include multiple I-131 diagnostic scans using at least 5 to 10 mCi of I-131 with attenti...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：
更新日期：1995-12-01 00:00:00
abstract：:Rates of obesity counseling are low among physicians because of the lack of time and training in this area. In recognition of this challenge, recent national guidelines encourage physicians to refer patients with obesity to intensive, comprehensive lifestyle programs to lose weight. Some commercial weight-loss program...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2020.02.006
更新日期：2020-06-01 00:00:00
