|
Congenital adrenal hyperplasia due to 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 |
|
Congenital adrenal hyperplasia due to 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 |
|
Congenital adrenal hyperplasia due to 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 |
|
Congenital adrenal hyperplasia due to 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 |
|
Congenital adrenal hyperplasia due to 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 |
|
Congenital adrenal hyperplasia due to 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 |
|
Congenital adrenal hyperplasia due to 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 |
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
0.100 |
Biomarker
|
disease |
BEFREE |
Based on published nomogram standards for serum 17-hydroxyprogesterone (17-OHP), seven patients (30%) were diagnosed as having the nonclassical symptomatic form of 21-hydroxylase deficiency [mean post ACTH 4244 +/- 1113 (SD) ng/dl].
|
3029158 |
1987 |
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
0.100 |
Biomarker
|
disease |
BEFREE |
Detection of heterozygotes for congenital adrenal hyperplasia: 21-hydroxylase deficiency-a comparison of HLA typing and 17-OH progesterone response to ACTH infusion.
|
6253614 |
1980 |
|
Congenital adrenal hyperplasia due to 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 |
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
0.100 |
Biomarker
|
disease |
BEFREE |
Heterozygotes of late-onset 21-hydroxylase deficiency had mildly elevated 17-hydroxy-progesterone responses to ACTH.
|
6290362 |
1982 |
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
HLA typing and ACTH testing of her parents and siblings provided evidence of a linkage between HLA and 21-hydroxylase deficiency loci.
|
6251108 |
1980 |
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
0.100 |
Biomarker
|
disease |
BEFREE |
Impaired mineralocorticoid hormone responses to adrenocorticotropin stimulation: additional characterization of heterozygosity for the 21-hydroxylase deficiency type of congenital adrenal hyperplasia.
|
6311859 |
1983 |
|
Congenital adrenal hyperplasia due to 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 |
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
0.100 |
Biomarker
|
disease |
BEFREE |
In all the members of this family who were tested, the response of 17-hydroxyprogesterone and progesterone to adrenocorticotropic hormone stimulation was either normal or of the type seen in heterozygotes for congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
|
3808511 |
1987 |
|
Congenital adrenal hyperplasia due to 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 |
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
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 |
|
Congenital adrenal hyperplasia due to 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 |
|
Congenital adrenal hyperplasia due to 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 |
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
0.100 |
Biomarker
|
disease |
BEFREE |
Plasma 21-deoxycortisol (21-DOF) and 17-hydroxyprogesterone (17-OHP) concentrations were assayed before (basal) and 1 h after ACTH stimulation in 4 groups of normal subjects (35 follicular phase women, 22 luteal phase women, 33 adult men, and 15 prepubertal children) and in a group of 31 patients with the late-onset form of congenital adrenal hyperplasia (LOCAH) due to 21-hydroxylase deficiency as well as in 31 LOCAH) heterozygotes.
|
2831244 |
1988 |
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Screening heterozygotes for 21-hydroxylase deficiency among hirsute women: lack of utility of the adrenocorticotropin hormone test.
|
2840308 |
1988 |
|
Congenital adrenal hyperplasia due to 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 |
|
Congenital adrenal hyperplasia due to 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 |
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
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 |
|
Congenital adrenal hyperplasia due to 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 |