|
Congenital adrenal hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
We hypothesized that they may interfere with mineralocorticoid signaling and fludrocortisone therapy in patients with congenital adrenal hyperplasia (CAH) without effective glucocorticoid replacement and ACTH suppression.
|
31821037 |
2020 |
|
Congenital adrenal hyperplasia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Adrenocorticotropic hormone level and serum cortisol were normal, which excluded initial impression of congenital adrenal hyperplasia.
|
30617386 |
2019 |
|
Congenital adrenal hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders of adrenal steroidogenesis that impair cortisol synthesis, with compensatory increases in ACTH leading to hyperplastic adrenals.
|
29880708 |
2018 |
|
Congenital adrenal hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Children whose clinical presentation suggests nonclassical congenital adrenal hyperplasia should undergo diagnostic adrenocorticotropic hormone stimulation testing.
|
27743484 |
2017 |
|
Congenital adrenal hyperplasia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Elevated levels of ACTH play a critical role in disease progression in several indications, including congenital adrenal hyperplasia and Cushing disease.
|
27906551 |
2017 |
|
Congenital adrenal hyperplasia
|
0.100 |
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 |
|
Congenital adrenal hyperplasia
|
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 |
|
Congenital adrenal hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
These data indicate that corticosterone may be a metabolically favorable alternative to cortisol for glucocorticoid replacement therapy when ACTH suppression is desirable, as in congenital adrenal hyperplasia, and justify development of a pharmaceutical preparation.
|
27535620 |
2016 |
|
Congenital adrenal hyperplasia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Increased expression of ACTH (MC2R) and androgen (AR) receptors in giant bilateral myelolipomas from patients with congenital adrenal hyperplasia.
|
24884994 |
2014 |
|
Congenital adrenal hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
His basal 17-hydroxyprogesterone (17-OHP) level was not high, and the poor response in 17-OHP on ACTH stimulation test excluded congenital adrenal hyperplasia.
|
25003377 |
2014 |
|
Congenital adrenal hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
To clarify the role of ACTH and androgen in the pathogenesis of myelolipoma, we report a case of giant adrenal myelolipoma in a patient with poorly controlled congenital adrenal hyperplasia.
|
18618087 |
2008 |
|
Congenital adrenal hyperplasia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The aberrant expression of the gastric inhibitory polypeptide (GIP) receptor in adrenal hyperplasia: does chronic adrenocorticotropin exposure stimulate up-regulation of GIP receptors in Cushing's disease?
|
15705925 |
2005 |
|
Congenital adrenal hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Carriers of congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency demonstrate increased secretion of cortisol precursors after ACTH stimulation, suggestive of impaired cortisol production and compensatory increases in hypothalamic CRH secretion.
|
15126546 |
2004 |
|
Congenital adrenal hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
ACTH stimulation test is widely used as a basic diagnostic method for non-classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD).
|
12605347 |
2003 |
|
Congenital adrenal hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Extremely high levels of basal serum 17alpha-hydroxyprogesterone as well as an exaggerated response of 17alpha-hydroxyprogesterone to adrenocorticotropic hormone confirmed congenital adrenal hyperplasia at 7 years of age.
|
14714757 |
2003 |
|
Congenital adrenal hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The value of low dose (1 microg) ACTH stimulation test in the investigation of non-classic adrenal hyperplasia due to 11beta-hydroxylase deficiency.
|
12518247 |
2002 |
|
Congenital adrenal hyperplasia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The median basal (i.e., Steroid(0)) or ACTH-stimulated (i. e., Steroid(60)) serum levels of PREG, 17-HPREG, DHA, P4, 17-HP, A4 and, most importantly, S were higher in NCAH patients than in controls.
|
10927053 |
2000 |
|
Congenital adrenal hyperplasia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, in vivo Bcl-2 protein analysis showed its down-regulation in adrenal hyperplasia of Cushing's disease despite ACTH stimulation.
|
11196462 |
2000 |
|
Congenital adrenal hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
In congenital adrenal hyperplasia (CAH), decreased production of cortisol leads to increased secretion of ACTH from the pituitary, resulting in hyperplasia of the adrenals.
|
10435060 |
1999 |
|
Congenital adrenal hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Molecular genotype analysis and ACTH stimulation tests were performed in healthy volunteers (n = 20) and relatives of patients with congenital adrenal hyperplasia (n = 31).
|
9545098 |
1998 |
|
Congenital adrenal hyperplasia
|
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
|
0.100 |
GeneticVariation
|
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
|
0.100 |
Biomarker
|
disease |
BEFREE |
Another factor stimulating adrenocortical cell growth and potentially associated with formation of adrenal adenomas and, less frequently, carcinomas is the chronic elevation of proopiomelanocortin-derived peptides in diseases like ACTH-dependent Cushing's syndrome and congenital adrenal hyperplasia.
|
7915195 |
1994 |
|
Congenital adrenal hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In a population and family study we have examined the relationship between HLA types, classical congenital adrenal hyperplasia (CAH), and variants of 21 hydroxylase (21 OH) deficiency detected by increased blood levels of 17 hydroxyprogesterone (17 PO) in response to ACTH after overnight suppression with dexamethasone ('short Synacthen test').
|
3001309 |
1985 |
|
Congenital adrenal hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Human leukocyte antigen (HLA) alleles and plasma 17-hydroxyprogesterone levels after ACTH stimulation were studied in 134 German families of patients with the salt-wasting (SW), simple virilizing (SV), or nonclassical (NC) late-onset form of congenital adrenal hyperplasia (CAH).
|
2982907 |
1985 |