|
Deficiency of steroid 21-monooxygenase
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A standard dose adrenocorticotropic hormone (ACTH) test revealed an inadequate cortisol response and high 17-hydroxy progesterone levels, suggesting simple virilising congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.
|
30074481 |
2019 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
Biomarker
|
disease |
BEFREE |
Basal blood levels of steroid hormones and serum levels of 17-hydroxyprogesterone at 1 h after intravenous injection of adrenocorticotropic hormone demonstrated that 21-hydroxylase deficiency was not the underlying cause of her virilization.
|
28190856 |
2017 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We studied clinical indicators of NC21OHD in 289 PP children: 14 (4.8%) showed post-ACTH 17OHP levels >30 nmol/L and NC21OHD due to CYP21A2 gene mutations was confirmed.
|
23329749 |
2012 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
To investigate whether basal and post-ACTH levels of S, DOC, and B and the 21-hydroxylase precursor-to-product ratios determined by tandem mass spectrometry preceded by high-performance liquid chromatography separation (liquid chromatography-tandem mass spectrometry) could disclose distinct profiles in genotypically confirmed classic (no.=14) and non-classic (NC) (no.=18) patients, heterozygote carriers (no.=61) and wildtypes (WT) (no.=27) for 21OHD.
|
20924223 |
2011 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Seven study patients and 8 controls subsequently underwent ACTH stimulation test, and none had levels compatible with a diagnosis of NC-21OHD.
|
19200987 |
2010 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
To determine the discriminating value of basal and ACTH-stimulated serum levels of 21DF in comparison with 17OHP in a population of HTZ for 21OHD (n = 60), as well as in NC patients (n = 16) and in genotypically normal control subjects (CS, n = 30), using fourth generation tandem mass spectrometry after HPLC separation (LC-MS/MS).
|
20846292 |
2010 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although 12 % of patients with adrenal incidentalomas had an exaggerated response of 17 OHP after ACTH administration indicating a possible 21-hydroxylase deficiency, these findings are not associated with CYP21 mutation estimated in peripheral blood samples.
|
18589890 |
2008 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Lack of ACTH and androgen receptor expression in a giant adrenal myelolipoma associated with 21-hydroxylase deficiency.
|
18618087 |
2008 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The 17-OH progesterone levels are elevated, as in 21-hydroxylase deficiency, while androgen levels are low; cortisol may be normal but is poorly responsive to adrenocorticotropic hormone.
|
18259105 |
2008 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
Biomarker
|
disease |
BEFREE |
The study was aimed to find out the prevalence of non-classical congenital adrenal hyperplasia (NC-CAH) due to 21-hydroxylase deficiency (21-OHdef) among Greek women with hirsutism and polycystic ovary syndrome (PCOS) and to compare the results of ACTH stimulated 17-hydroxyprogesterone 60 min (17-OHP60) values, with human leukocyte antigens (HLA) phenotypes, in any patient diagnosed as having NC-CAH.
|
18187875 |
2008 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of non-classical (NC) 21-hydroxylase deficiency (21-OH-D) was substantiated by the finding of increased baseline and adrenocorticotropic hormone (ACTH)-stimulated 17-hydroxy-progesterone levels and was supported by molecular analyses of the CYP21A2 gene, which revealed V281L homozygosis in patient 1 and V281L/P30L compound heterozygosis in patient 2.
|
17992539 |
2008 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
Biomarker
|
disease |
BEFREE |
An exaggerated response of 17- hydroxyprogesterone (17-OHP) to exogenous ACTH stimulation has been found in 30 to 70% of patients with incidentally discovered adrenal tumors, supporting the concept that congenital 21- hydroxylase deficiency may be a predisposing factor for adrenocortical tumorigenesis.
|
17848847 |
2007 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
Biomarker
|
disease |
BEFREE |
NCAH due to 21-hydroxylase deficiency is diagnosed when the ACTH-stimulated 17-OHP levels > 30 nmol/ l; this threshold varies depending on the assay.
|
17551465 |
2006 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
Biomarker
|
disease |
BEFREE |
Basal and ACTH-stimulated hormonal results revealed non-classical 21-hydroxylase deficiency-like status in one patient (3.6%), and 21-hydroxylase deficiency heterozygote carrier-like state in four patients (14.3%), while the other 23 patients (82.1%) had functional adrenal hyperandrogenism (FAH).
|
14513878 |
2003 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The proband was born with ambiguous genitalia from consanguineous parents and was mistreated as a 21-hydroxylase deficiency case since the age of 5 yr. She had very high levels of plasma ACTH (759 pg/ml or 167 pmol/liter) and high levels of cortisol (28-54 microg/dl or 772-1490 nmol/liter), androstenedione (5-14 ng/ml or 17-48 nmol/liter), T (174-235 ng/dl or 7-8 nmol/liter), and 17-hydroxyprogesterone (8-12 ng/ml or 24-36 nmol/liter).
|
11932321 |
2002 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
Biomarker
|
disease |
BEFREE |
In all patients, hormonal evaluation for 21-hydroxylase deficiency was performed using measurements of basal and ACTH-stimulated plasma 17-hydroxyprogesterone (17-OHP) concentrations.
|
12213672 |
2002 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations.
|
12222711 |
2002 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The aim of this study was to determine whether ACTH-stimulated 17OHP levels in obligate carriers for 21OHD would be correlated with the impairment of the enzyme activity caused by these mutations, which would affect the 17OHP cutoff level for the diagnosis of the NC form.
|
11836321 |
2002 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genotyping more patients with nonclassical 21-hydroxylase deficiency will help to redefine the cut-off value for ACTH-stimulated 17OH-P for correct diagnosis of this disease.
|
10792340 |
2000 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
Biomarker
|
disease |
BEFREE |
1%) with normal concentrations of 17-OHP after stimulation were found to be carriers of CYP21 gene mutations, indicating low positive predictive values of ACTH stimulation as a screening test for carriers of 21-hydroxylase deficiency.
|
10427156 |
1999 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
Biomarker
|
disease |
BEFREE |
Thus, a normal 17-hydroxyprogesterone response to ACTH stimulation testing does not exclude carrier status for 21-hydroxylase deficiency.
|
9545098 |
1998 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
After ACTH testing, 13 out of the 32 (41%) cases displayed higher 17-hydroxyprogesterone (17-OHP) levels than normal but less than those found in patients affected by nonclassical adrenal hyperplasia (CAH); these levels were similar to those observed in obligate heterozygotes for CAH due to 21-hydroxylase deficiency (21-OHD).
|
9666866 |
1998 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
Biomarker
|
disease |
BEFREE |
We have determined the 21-hydroxylase genotype in 197 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency and assessed phenotypic characteristics based on 1) genital status with respect to virilization in females, 2) ACTH stimulation tests to evaluate the secretion of androgens and 17-hydroxyprogesterone, and 3) salt deprivation tests to precisely describe the phenotype with respect to aldosterone deficiency and salt wasting.
|
7629224 |
1995 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The 60-minute ACTH stimulation test can provide clinicians with hormonal criteria for the assessment of the genotype of classic 21-hydroxylase deficiency in the Chinese population.
|
7613227 |
1995 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Mutant P450c21 enzymes carrying specific amino acid substitutions seen in patients with 21-hydroxylase deficiency exhibit activities that correlate with the clinical severity of the disease and with biochemical abnormalities such as 17-hydroxyprogesterone levels after ACTH (corticotropin) stimulation.
|
1958556 |
1991 |