Abstract：
BACKGROUND:Congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder due to mutation in the CYP21A2 gene. OBJECTIVE:To elucidate the genetic basis of 21-hydroxylase-deficient CAH in Hong Kong Chinese patients. PATIENTS AND METHODS:Mutational analysis of the CYP21A2 gene was performed on 35 Hong Kong Chinese patients with 21OHD using direct DNA sequencing and multiplex ligation-dependent probe amplification (MLPA). RESULTS:The genetic findings of 21 male and 14 female patients are the following: c.293-13A/C>G (intron 2 splice site; 20 alleles), p.I172N (13), p.R356W (7), p.Q318X (4). A total of 20 mutant alleles contained gross deletion/conversion of all or part of the CYP21A2 gene. A novel mutation, c.1367delA (p.D456fs), was detected in one patient. One patient had only a heterozygous mutation detected. Out of 35 patients, 16 would have been incorrectly genotyped if either DNA sequencing or MLPA alone was used for molecular analysis. CONCLUSIONS:The frequency of various mutations in the studied patients differs from those reported in other Asian populations. Gross deletion/conversion accounts for nearly one-third of the genetic defects. Therefore, laboratories must include methods for detecting point mutations as well as gross deletions/conversions to avoid misinterpretation of genotype. Genotyping has increasingly been proven to be a useful tool for supplementing, if not replacing, hormonal profiling for the diagnosis of 21OHD.
journal_name
Steroidsjournal_title
Steroidsauthors
Chan AO,But WM,Ng KL,Wong LM,Lam YY,Tiu SC,Lee KF,Lee CY,Loung PY,Berry IR,Brown R,Charlton R,Cheng CW,Ho YC,Tse WY,Shek CCdoi
10.1016/j.steroids.2011.04.010subject
Has Abstractpub_date
2011-09-01 00:00:00pages
1057-62issue
10-11eissn
0039-128Xissn
1878-5867pii
S0039-128X(11)00143-7journal_volume
76pub_type
杂志文章相关文献
STEROIDS文献大全abstract：:Four new pregnane glycosides, stelmatocryptonoside A, B, C, and D (1-4), were isolated from the stems of Stelmatocrypton khasianum. On the basis of chemical and spectral data, the structures of 1-4 were established as 3beta, 16alpha-dihydroxy-pregn-5-en-20-one-16-O-beta-D-glucopyranosyl-(1-->2)-[beta-D-glucopyranosyl-...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/s0039-128x(01)00187-8
更新日期：2002-04-01 00:00:00
abstract：BACKGROUND AND AIMS:Calcitriol, an active vitamin D metabolite, has a limited application in bone repair because of its undesirable hypercalcaemic action. However it has emerged that lithocholic acid (LCA) is a non-calcaemic vitamin D receptor ligand but whether this steroid can support osteoblast maturation has not be...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/j.steroids.2009.07.005
更新日期：2009-11-01 00:00:00
abstract：:This study represents a continuing effort to find a new biomarker for the diagnosis and management of prostatic cancer. Polyclonal antibodies were prepared to a peptide (CAKP) representing amino acids 28 to 43 of the 5 alpha-reductase type 2 isozyme. Using immunoaffinity-purified antibodies, the sera of 62 patients we...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/s0039-128x(96)00184-5
更新日期：1996-11-01 00:00:00
abstract：:Saturation analysis of the binding of [3H]dexamethasone [( 3H]DEX) to ammonium sulfate precipitates (ASPs) confirmed the presence of a limited-capacity, high-affinity binder in human adipose tissue cytosols. Various non-radioactive steroids competed with [3H]DEX for binding to the ASPs in the following sequence: dexam...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/0039-128x(87)90091-2
更新日期：1987-06-01 00:00:00
abstract：:The hormone 1alpha,25(OH)2vitamin D3 (1,25-D) produces biological responses via both genomic and rapid mechanisms. The genomic responses are linked to a nuclear receptor, while the rapid responses are believed to utilize other signal transduction pathways that are likely linked to a putative cell membrane receptor for...
journal_title：Steroids
pub_type： 杂志文章,评审
doi：10.1016/s0039-128x(98)00091-9
更新日期：1999-01-01 00:00:00
abstract：:Two dimeric steroidal terephthalates derived from epimeric 4,5-seco-cholest-3-yn-5-ols were prepared starting from cholesterol in a five-step synthetic sequence. X-ray crystallography shows that the obtained compounds display novel supramolecular networks in the solid state in which the facial hydrophobicity of the st...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/j.steroids.2016.03.001
更新日期：2016-05-01 00:00:00
abstract：:13beta-Ethyl-3-methoxy-17beta-ol-8,14-seco-1,3,5(10),8-gonatetraen-14-one (IIIa) was isolated and its participation in the well-known acidic cyclization process was established. ...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/0039-128x(75)90015-x
更新日期：1975-05-01 00:00:00
abstract：:Membrane-initiated cellular responses to steroids include modulation of ion channel activities via signal transduction pathways. However, the molecular mechanisms involved in nongenomic actions remain only partially understood. Our research has focused on the rapid effects of 1alpha,25(OH)(2) Vitamin D(3) [1,25D] on L...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/j.steroids.2005.09.012
更新日期：2006-04-01 00:00:00
abstract：:The high concentrations of dehydroepiandrosterone sulfate and pregnenolone sulfate in the mammalian brain, despite the blood-brain barrier's impermeability to these compounds, and the apparent independence of these concentrations from those in plasma prompted us to investigate whether enzymatic sulfation of dehydroepi...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/s0039-128x(97)00013-5
更新日期：1997-05-01 00:00:00
abstract：:In demyelinating or non-demyelinating neurodegenerative diseases, increased levels of 7-ketocholesterol (7KC), 7β-hydroxycholesterol (7β-OHC) and 24(S)-hydroxycholesterol (24S-OHC) can be observed in brain lesions. In 158N murine oligodendrocytes, 7KC triggers a complex mode of cell death defined as oxiapoptophagy, in...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/j.steroids.2015.02.003
更新日期：2015-07-01 00:00:00
abstract：:Human mammary medullary carcinoma cells (passages 16 to 21) were cultured for 2 days to allow for attachment, followed by 6 days of culture in either fetal calf serum, human cord blood, human amniotic fluid, or growth factors in the presence or absence of purified human alpha-fetoprotein (AFP). When growth factors wer...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/0039-128x(91)90042-t
更新日期：1991-05-01 00:00:00
abstract：:Optimal assay conditions for cholesterol 7 alpha-hydroxylase activity in swine liver microsomes were determined. The enzyme activity is induced three-fold by feeding cholestyramine to the swine. This suggests that cholesterol 7 alpha-hydroxylase is likely to be the rate-limiting enzyme for biosynthesis of bile acids i...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/0039-128x(79)90008-4
更新日期：1979-03-01 00:00:00
abstract：:The concentration of testosterone (T) in the peripheral plasma of laboratory mice is extremely variable. This variability is already evident at 20--25 days of age and is not eliminated by brief or chronic exposure to male or female mice, or by isolation. The variation in T levels in plasma samples collected from the s...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/0039-128x(75)90107-5
更新日期：1975-12-01 00:00:00
abstract：:In this study, we investigated the binding characteristics of [3H]Delta(5)-androstene-3beta,17beta-diol to rabbit vaginal cytosolic and nuclear extracts and in freshly excised intact tissue strips. [3H]delta(5)-Androstene-3beta,17beta-diol bound to a protein(s) in the vaginal nuclear extract with high affinity (K(d)=3...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/j.steroids.2003.10.006
更新日期：2004-01-01 00:00:00
abstract：:The therapeutic use of progesterone following traumatic brain injury has recently entered phase III clinical trials as a means of neuroprotection. Although it has been hypothesized that progesterone protects against calcium overload following excitotoxic shock, the exact mechanisms underlying the beneficial effects of...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/j.steroids.2011.02.013
更新日期：2011-08-01 00:00:00
abstract：:The preparation of ring-A fused pyrimidines at the steroidal 2,3-position is herein described. The novel steroidal pyrimidines were prepared from the solid phase three-component reaction of 2-hydroxymethylene-3-keto steroids, arylaldehydes and ammonium acetate under microwave irradiation. ...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/j.steroids.2009.03.006
更新日期：2009-09-01 00:00:00
abstract：:A number of progesterone derivatives, having a 17 alpha-acetoxy group and various functions at C-3 and C-6, interact at the cardiac glycoside (CG) binding site, using [3H]ouabain in a radioligand binding assay (RBA) with membranes from dog myocardium. We now report on results of structure-activity studies concerned wi...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/0039-128x(87)90012-2
更新日期：1987-04-01 00:00:00
abstract：:The abundant expression of progesterone receptors (PR) in human meningiomas is well established. It is unknown, however, how PR expression is regulated, especially since estrogen receptors (ER) are virtually absent in these tumors. At the mRNA level, ER splice variants occur in meningioma but these appear not to be in...
journal_title：Steroids
pub_type： 杂志文章,评审
doi：10.1016/s0039-128x(00)00193-8
更新日期：2000-10-01 00:00:00
abstract：:The aim of the present work was to analyze the effect of dehydroepiandrosterone (DHEA) on several metabolic risk factors, including cardiovascular health and insulin resistance, in aged rats submitted to a high-fat diet. For that, weaned rats were fed on a high-fat diet until 20 months of age. In the last 13 weeks of ...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/j.steroids.2008.04.011
更新日期：2008-10-01 00:00:00
abstract：:Dehydroepiandrosterone (DHEA) is an endogenous steroid hormone involved in a number of biological actions in humans and rodents, but its effects on renal tissue have not yet been fully understood. The aim of this study is to assess the effect of DHEA treatment on diabetic rats, mainly in relation to renal function and...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/j.steroids.2011.02.006
更新日期：2011-05-01 00:00:00
abstract：:A trisulfated derivative of 24,25,26,26-tetramethyl-5 alpha-cholest-23E-ene-2 alpha, 3 beta, 6 alpha-triol (sokotrasterol sulfate) has been isolated from the sponge Halichondriidae gen. sp., collected near Sokotra Island (Arabian Sea), and its structure has been elucidated. The side chain of the new steroid involves a...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/0039-128x(83)90039-9
更新日期：1983-09-01 00:00:00
abstract：:Cholesterol side-chain cleavage (CSCC) and aromatase activities were measured in luteal mitochondria and tissue pieces, respectively, from rhesus monkeys on days 22, 49, 128 and 160 of gestation. CSCC activity did not vary significantly during gestation and thus probably does not respond to chorionic gonadotropin whic...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/0039-128x(77)90042-3
更新日期：1977-02-01 00:00:00
abstract：:Morphologic changes at the interface of rat endometrial luminal epithelial cells and the stromal cells immediately adjacent were examined and correlated with hypertrophy of the epithelial cells during estradiol (E2) infusion (1 microgram E2/24 h). While the lamina densa in castrate endometrium was thread-like, it beca...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/0039-128x(91)90061-y
更新日期：1991-03-01 00:00:00
abstract：:For the purpose of describing the pathway by which estrones are synthesized in the rhesus monkey (Macaca mulatta) corpus luteum (CL), CL were obtained during the midluteal phase of the menstrual cycle and fragments incubated with equimolar amounts of [7-3H]pregnenolone plus [4-14C]progesterone. Metabolites including 3...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/0039-128x(80)90019-7
更新日期：1980-08-01 00:00:00
abstract：:A radioimmunoassay for plasma 3 beta, 7 alpha-dihydroxy-5-androsten-17-one (7 alpha-hydroxy DHA) has been developed using anti-sera raised against 3 beta, 7 alpha-dihydroxy-5-androstene-17 beta-carboxyl-bovine serum albumin conjugate and [1, 2 (n) - 3H] 7 alpha-hydroxy DHA as the radioligand. Significant cross reactiv...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/0039-128x(77)90023-x
更新日期：1977-09-01 00:00:00
abstract：:Fermentation of mesterolone (1) with Cunninghamella blakesleeana yielded four new metabolites, 1α-methyl-1β,11β,17β-trihydroxy-5α-androstan-3-one (2), 1α-methyl-7α,11β,17β-trihydroxy-5α-androstan-3-one (3), 1α-methyl-1β,6α,17β-trihydroxy-5α-androstan-3-one (4) and 1α-methyl-1β,11α,17β-trihydroxy-5α-androstan-3-one (5)...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/j.steroids.2014.01.001
更新日期：2014-04-01 00:00:00
abstract：:The free sterol mixture of the sponge Psammaplysilla purpurea was shown to contain aplysterol as the major constituent. In addition to other sterols such as 5,7-cholestadien-3beta-ol, cholesterol, 5alpha-cholestan-3beta-ol, 24epsilon-methylcholesta-5,22-dien-3beta-ol, 24epsilon--methylcholesterol, 24epsilon-ethylchole...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/s0039-128x(78)80046-4
更新日期：1978-06-01 00:00:00
abstract：:We have previously demonstrated that 1α,25 dihydroxy-vitamin D(3) (1α,25(OH)(2)D(3)) has antiproliferative effects on the growth of endothelial cells transformed by the viral G protein-coupled receptor associated to Kaposi sarcoma (vGPCR). In this work, we have investigated whether 1α,25(OH)(2)D(3) exerts its growth i...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/j.steroids.2012.05.006
更新日期：2012-09-01 00:00:00
abstract：:We describe the development of a serum chlormadinone acetate (CMA) time-resolved fluoroimmunoassay (TR-FIA). We prepared haptens (3-CMO-chlormadinone acetate and 6-chloropregna-4,6-dien-17,20-diol-3-one-20-hemisuccinate), biotinylated tracers (3(biotinylaminopropylamido) 3-CMO-chlormadinone acetate and 3-(6-chloropreg...
journal_title：Steroids
pub_type： 临床试验,杂志文章
doi：10.1016/s0039-128x(02)00050-8
更新日期：2002-12-01 00:00:00
abstract：:To reduce the variability in estradiol (E2) testing and to assure better patient care, standardization of E2 measurements has been recommended. This study aims to assess the accuracy and variability of E2 measurements performed by 11 routine immunological methods and 6 mass spectrometry methods using single donor seru...
journal_title：Steroids
pub_type： 杂志文章
doi：10.1016/j.steroids.2013.12.005
更新日期：2014-04-01 00:00:00
