|
11-Beta-hydroxylase deficiency
|
0.010 |
Biomarker
|
disease |
BEFREE |
Hormonal response to ACTH stimulation and HLA genotyping were determined in families of patients with 11 beta-hydroxylase deficiency congenital adrenal hyperplasia.
|
6244328 |
1980 |
|
17,20-desmolase deficiency
|
0.010 |
Biomarker
|
disease |
BEFREE |
ACTH stimulation testing demonstrated a lesser degree of 17-hydroxylase deficiency in the obligate heterozygous parents; one father had increased basal serum 17-hydroxyprogesterone values, unresponsive to ACTH, suggesting partial Leydig cell 17,20-desmolase deficiency.
|
2493025 |
1989 |
|
17-Alpha-Hydroxylase/17,20 Lyase Deficiency
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
17α-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by impaired productions of gonadal steroids and cortisol, a subsequent elevation of adrenocorticotropic hormone, and accumulation of steroid precusors, which are shunted into the mineralocorticoid synthesis pathway.
|
22103881 |
2012 |
|
17-Alpha-Hydroxylase/17,20 Lyase Deficiency
|
0.020 |
Biomarker
|
disease |
BEFREE |
ACTH = adrenocorticotropic hormone BMD = bone mineral density CAH = congenital adrenal hyperplasia CT = computed tomography DEXA = dual-energy X-ray absorptiometry DEX = dexamethasone 17OHD = 17α-hydroxylase/17, 20-lyase deficiency.
|
28225307 |
2017 |
|
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 |
|
21-hydroxylase deficiency
|
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 |
|
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 |
|
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 |
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 |
|
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 |
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 |
|
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 |
|
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 |
|
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 |
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 |
|
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 |
Impaired mineralocorticoid hormone responses to adrenocorticotropin stimulation: additional characterization of heterozygosity for the 21-hydroxylase deficiency type of congenital adrenal hyperplasia.
|
6311859 |
1983 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Screening heterozygotes for 21-hydroxylase deficiency among hirsute women: lack of utility of the adrenocorticotropin hormone test.
|
2840308 |
1988 |
|
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 |
|
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 |
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 |
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 |