|
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 |
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 |
|
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 |
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 |
|
Congenital adrenal hyperplasia due to 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 |
|
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 |
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 |
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 |
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 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the compound heterozygous patients as a group have a significantly higher response of 21-hydroxylase precursors to ACTH stimulation than do patients with the homozygous mild 21-hydroxylase deficiency state.
|
3023431 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Thus, a normal 17-hydroxyprogesterone response to ACTH stimulation testing does not exclude carrier status for 21-hydroxylase deficiency.
|
9545098 |
1998 |
|
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 |
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 |
The hormonal responses to ACTH of the family members with cryptic 21-hydroxylase deficiency were determined and compared to the responses of patients with CAH, patients with acquired adrenal hyperplasia, family members predicted to be heterozygous for CAH, family members predicted to be unaffected, and the general population.
|
6271801 |
1981 |
|
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 |
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 |
The results showed an association between "abnormal" DR1 and 21-OH-defL (elevated rates of 17 alpha-hydroxyprogesterone [17-OHP] increase and elevated peak 17-OHP values following ACTH stimulation).
|
3013005 |
1986 |
|
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 |
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 |
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 |
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 |