Abstract:
:P450c17 commands a central role in human steroidogenesis as the qualitative regulator of steroid hormone flux. Consequently, the study of P450c17 deficiencies in human beings serves to illustrate many aspects of the physiology of steroid biosynthesis and to demonstrate salient features of the genetics and biochemistry of P450c17 itself. Furthermore, classic 17-hydroxylase deficiency was first described in patients with sexual infantilism and hypertension, but it is now recognized that partial and selective forms of P450c17 deficiencies also exist. These patients demonstrate a range of phenotypes, illustrating the multiple roles of P450c17 in human biology. This article reviews the genetics and biochemistry of P450c17 as a prelude for understanding the pathophysiology of these diseases and approaches to their diagnosis and management.
journal_name
Endocrinol Metab Clin North Amjournal_title
Endocrinology and metabolism clinics of North Americaauthors
Auchus RJdoi
10.1016/s0889-8529(08)70021-5subject
Has Abstractpub_date
2001-03-01 00:00:00pages
101-19, viiissue
1eissn
0889-8529issn
1558-4410pii
S0889-8529(08)70021-5journal_volume
30pub_type
杂志文章,评审abstract::Vitamin D insufficiency and deficiency can be diagnosed with measurements of serum 25-hydroxyvitamin D (25OHD). Most vitamin D is derived from sunlight (80%), so serum 25OHD levels are lowest in late winter and early spring. Dietary vitamin D in North America is small, about 100 to 200 IU daily. A recent review of the...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.ecl.2017.07.003
更新日期:2017-12-01 00:00:00
abstract::Endocrinopathies are significant consequences of the treatment of childhood cancers. The risk of developing these adverse events is related to the underlying disease and its treatment with cytotoxic agents and radiation therapy. This article reviews hypothalamic-pituitary, thyroid, and gonadal dysfunction, as well as ...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.ecl.2005.04.008
更新日期:2005-09-01 00:00:00
abstract::Various clinical syndromes illustrate the essential role of insulin in modulating somatic growth both in utero and after birth. The effect of insulin on growth is a consequence of direct effects transduced via its homologous receptor and post-receptor signaling pathways and indirect effects on other modulators of grow...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0889-8529(05)70344-3
更新日期:1996-09-01 00:00:00
abstract::Hypergonadotropic forms of amenorrhea in young women are many and varied, and the disorder is not nearly as uncommon as previously believed. It is likely that all physicians seeing women with amenorrhea will encounter this disorder. Careful evaluation is warranted to eliminate any associated autoimmune disorders. Beca...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:
更新日期:1992-03-01 00:00:00
abstract::Unlike other pituitary hormones, PRL is under tonic inhibition by the hypothalamus by way of the PRL inhibitory factor, dopamine. GAP and GABA may also be inhibitory. PRL-releasing factors include TRH and VIP and possibly others. Circulating PRL is predominantly monomeric, although some patients with hyperprolactinemi...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:
更新日期:1992-12-01 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::Neuroendocrine tumors (NETs) are rare neoplasms found in diverse locations within the body. These tumors are commonly classified by the primary tumor's location, further subclassified by their differentiation, and finally segregated by their ability to hypersecrete peptides or amines. A number of groups have summarize...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.ecl.2010.08.004
更新日期:2011-03-01 00:00:00
abstract::An approach to the diagnosis and follow-up of patients with osteoporosis is described. A system of classification of vertebral fractures is outlined, and the relative merits of different techniques for bone mineral density are discussed. The importance of identifying factors that accelerate bone loss is stressed. The ...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:
更新日期:1988-09-01 00:00:00
abstract::Diseases in other organs may impair the male reproductive system. Acute critical conditions such as severe trauma, surgery, myocardial infarction, burns, liver failure, intoxication, or starvation are associated with suppression of gonadotropin secretion and secondary hypogonadism. With chronic illnesses, a primary te...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0889-8529(05)70043-8
更新日期:1998-12-01 00:00:00
abstract::The 3243A>G mutation in mitochondrial DNA (mtDNA) is a genetic variant that is associated with a high risk of developing diabetes during life. Enhanced aging of pancreatic beta-cells, a reduced capacity of these cells to synthesize large amounts of insulin,and a resetting of the ATP/ADP-regulated K-channel seem to be ...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.ecl.2006.02.014
更新日期:2006-06-01 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::Nonneoplastic and neoplastic proliferative lesions of endocrine cells of the gastrointestinal tract are detailed. A multistep continuum from hyperplasia, dysplasia to neoplasia is identified for histamine-producing enterochromaffin-like (ECL) cells of the gastric corpus. Most gastric neuroendocrine tumors (NETs) are s...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.ecl.2010.08.009
更新日期:2010-12-01 00:00:00
abstract::Lipoproteins are spherical macromolecular complexes in which hydrophobic molecules of triglyceride and cholesteryl ester are enveloped within a monolayer of amphipathic molecules of phospholipids, free cholesterol, and apoproteins. The major lipoprotein classes include intestinally derived chylomicrons that transport ...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0889-8529(05)70023-2
更新日期:1998-09-01 00:00:00
abstract::The notion that Graves' ophthalmopathy is an autoimmune disease has been based primarily on the clinical associations between it and Graves' hyperthyroidism, and on the frequently beneficial response of the disease to immunosuppressive therapy. Recent advances in molecular biology have led to new insights into the pat...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0889-8529(05)70132-8
更新日期:2000-06-01 00:00:00
abstract::External irradiation to the thyroid, even at low doses, induces subsequent development of thyroid nodules and carcinomas, with an estimated incidence of five per one million people per year if they have been exposed to 1 rad. Larger doses are associated with hypothyroidism. External irradiation also induces thyroid hy...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:
更新日期:1993-09-01 00:00:00
abstract::Skin manifestations associated with diabetes mellitus are common and, with close scrutiny, can occur in most, if not all, patients. Little information is available on what common pathophysiologic thread is responsible for the skin manifestation and diabetes. Although controlled studies are lacking, a recognition of th...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0889-8529(05)70334-0
更新日期:1996-06-01 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::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::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 defi...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0889-8529(08)70020-3
更新日期:2001-03-01 00:00:00
abstract::Osmoreceptor sensitivity is enhanced in healthy elderly subjects and AVP secretion is increased, relative to that of younger subjects, when plasma osmolality rises. Increased AVP secretion/unit increase in plasma tonicity reflects a decrease in collecting tubule sensitivity to AVP by an as yet unknown mechanism in the...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:
更新日期:1987-12-01 00:00:00
abstract::All organisms must adapt to changing nutrient availability, with nutrient surplus promoting glucose metabolism and nutrient deficit promoting alternative fuels (in mammals, mainly free fatty acids). A major function of glucose-sensing neurons in the hypothalamus is to regulate blood glucose. When these neurons sense g...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.ecl.2012.11.007
更新日期:2013-03-01 00:00:00
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::This article discusses congenital adrenal hyperplasia (CAH) caused by a deficiency of 21-hydroxylase, which represents 90% of all cases of CAH. As in other genetic disorders of metabolism, the symptoms of CAH are related to both the decrease of the final products of metabolism and the accumulation of precursors that a...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:
更新日期:1991-06-01 00:00:00
abstract::Duplex/color Doppler sonography (US) is the imaging modality of choice for the evaluation of patients with primary amenorrhea. Careful correlation with clinical history, physical examination and laboratory findings significantly narrows the diagnostic possibilities thus allowing for a more precise diagnosis. This arti...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.ecl.2009.09.002
更新日期:2009-12-01 00:00:00
abstract::In this article, the cellular and molecular mechanisms of diabetic complications have been reviewed. Hyperglycemia-induced mechanisms that may induce vascular dysfunction in specific sites of diabetic microvascular damage include increased polyol pathway flux, altered cellular redox state, increased formation of diacy...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0889-8529(05)70324-8
更新日期:1996-06-01 00:00:00
abstract::This article explores many of the ophthalmologic aspects of thyroid-related orbitopathy. The eight main areas of clinical concern--ocular comfort, optic nerve function, exophthalmos, eyelid position, diplopia, cosmesis, soft-tissue signs, and psychologic factors--are discussed so that practitioners may be more secure ...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0889-8529(05)70300-5
更新日期:1998-03-01 00:00:00
abstract::Physiologic regulation of bone cell function is achieved by the combined actions of some circulating hormones and several locally produced cytokines. Interactions among these agents are important, and the regulated generation of proteolytic activities is likely to play a major role in determining net effects on bone c...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:
更新日期:1989-12-01 00:00:00
abstract::Approximately 70% of patients who form metabolic stones have the idiopathic calcium oxalate urolithiasis syndrome, which is diagnosed by exclusion of other identifiable metabolic abnormalities. This article reviews the classification, risk factors, and treatment options for those patients with this syndrome. ...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:
更新日期:1990-12-01 00:00:00
abstract::Underwater weighing has been the gold standard for the measurement of body composition in humans; however, the two formulas widely used, the Siri and Bronze, were developed using young adult white males. The development of newer techniques in the past 20 years has greatly expanded the accuracy and ease of measuring bo...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0889-8529(05)70359-5
更新日期:1996-12-01 00:00:00
abstract::The last 2 decades have seen tremendous growth in understanding the clinical characteristics of various childhood bone disorders, their mechanisms and natural histories, and their responses to treatment. In this review, the authors describe advances in bone assessment techniques for children. In addition, they provide...
journal_title:Endocrinology and metabolism clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.ecl.2020.07.005
更新日期:2020-12-01 00:00:00