|
21-hydroxylase deficiency
|
0.100 |
Biomarker
|
disease |
BEFREE |
Adrenal tissues were obtained from patients with Cushing disease, ectopic secretion of ACTH [paraneoplastic Cushing syndrome; (paraCS)], 21-hydroxylase deficiency (21-OHD), primary bilateral macronodular adrenal hyperplasia with intra-adrenal ACTH presence, or cortisol-producing adenomas.
|
31074783 |
2019 |
|
21-hydroxylase deficiency
|
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 |
|
21-hydroxylase deficiency
|
0.100 |
Biomarker
|
disease |
BEFREE |
Carriers of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) demonstrate increased secretion of cortisol precursors following ACTH stimulation, suggestive of impaired cortisol production and compensatory increases in hypothalamic corticotropin-releasing hormone (CRH) secretion.
|
28500827 |
2017 |
|
21-hydroxylase deficiency
|
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 |
|
21-hydroxylase deficiency
|
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 |
|
21-hydroxylase deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
When possible, we will try to achieve this goal also by providing some results from our personal experience regarding: some aspects of CYP21A2 gene analysis, with basic genotype/phenotype relationships; its crucial role in both genetic counselling and in prenatal diagnosis and treatment in families at risk for 21-OHD; its help in the comprehension of the severity of the disease in patients diagnosed by neonatal screening and possibly treated before an evident salt-loss crisis or before performing adequate blood sampling; its usefulness in the definition of post ACTH 17-hydroxyprogesterone values, discriminating between non-classic, heterozygote and normal subjects; and finally the contribution of genes other than CYP21A2 whose function or dysfunction could influence 21-hydroxylase activity and modify the presentation or management of the disease.
|
20639616 |
2010 |
|
21-hydroxylase deficiency
|
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 |
|
21-hydroxylase deficiency
|
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 |
|
21-hydroxylase deficiency
|
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 |
|
21-hydroxylase deficiency
|
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 |
|
21-hydroxylase deficiency
|
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 |
|
21-hydroxylase deficiency
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Lack of ACTH and androgen receptor expression in a giant adrenal myelolipoma associated with 21-hydroxylase deficiency.
|
18618087 |
2008 |
|
21-hydroxylase deficiency
|
0.100 |
Biomarker
|
disease |
BEFREE |
An ACTH stimulation test in which serum hormone concentrations of 17-OHP, Delta(4)-androstenedione, and testosterone are determined will assist in the diagnosis of NC 21-OHD, but the definitive diagnostic test is an analysis of the mutations in the CYP21A2 gene.
|
18574213 |
2008 |
|
21-hydroxylase deficiency
|
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 |
|
21-hydroxylase deficiency
|
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 |
|
21-hydroxylase deficiency
|
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 |
|
21-hydroxylase deficiency
|
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 |
|
21-hydroxylase deficiency
|
0.100 |
Biomarker
|
disease |
BEFREE |
To determine the cut-off values of basal and post-ACTH serum 17-OHP concentrations, data of patients with suspected 21-OHD has been analysed.
|
12605347 |
2003 |
|
21-hydroxylase deficiency
|
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 |
|
21-hydroxylase deficiency
|
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 |
|
21-hydroxylase deficiency
|
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 |
|
21-hydroxylase deficiency
|
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 |
|
21-hydroxylase deficiency
|
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 |
|
21-hydroxylase deficiency
|
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 |
|
21-hydroxylase deficiency
|
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 |