|
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 |
|
Deficiency of steroid 21-monooxygenase
|
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 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Screening heterozygotes for 21-hydroxylase deficiency among hirsute women: lack of utility of the adrenocorticotropin hormone test.
|
2840308 |
1988 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We present the HLA typing, the baseline and the ACTH-stimulated hormonal levels in 5 patients with late-onset 21OHD and in their family members.
|
3009598 |
1986 |
|
Deficiency of steroid 21-monooxygenase
|
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 |
|
Deficiency of steroid 21-monooxygenase
|
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 |
|
Deficiency of steroid 21-monooxygenase
|
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 |
|
Deficiency of steroid 21-monooxygenase
|
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 |
|
Deficiency of steroid 21-monooxygenase
|
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 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
Biomarker
|
disease |
BEFREE |
The five CAH patients had decreased cortisol but normal 11-deoxycortisol responses to ACTH, thus indicating 21-hydroxylase deficiency (21HD).
|
6254362 |
1980 |
|
Deficiency of steroid 21-monooxygenase
|
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 |
|
Deficiency of steroid 21-monooxygenase
|
0.100 |
Biomarker
|
disease |
BEFREE |
Heterozygotes of late-onset 21-hydroxylase deficiency had mildly elevated 17-hydroxy-progesterone responses to ACTH.
|
6290362 |
1982 |
|
Deficiency of steroid 21-monooxygenase
|
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 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |