Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0432222 (SEM)
 47,337 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

21-Hydroxylase congenital adrenal hyperplasia (21-OHCAH) involves a primary defect of the adrenal gland and a secondary involvement of ACTH secretion. The responses of the pituitary-adrenal axis to ovine CRH (oCRH, 1 micrograms/kg) were examined in subjects with different degrees of 21-OH deficiency. We studied 43 subjects: 7 classical and 6 nonclassical (NC) 21-OHCAH patients, 15 heterozygotes (HT) and 15 control subjects. Baseline plasma ACTH levels were higher in classical CAH than in NC-CAH, HT, and control subjects (mean +/- SEM, 66 +/- 14, 6 +/- 1.6, 4 +/- 0.5, and 5 +/- 0.5 pmol/L, respectively). The mean plasma ACTH response to oCRH in NC-CAH (17 +/- 3 pmol/L) was higher than in controls and HT (9 +/- 0.8 and 11 +/- 1.5 pmol/L). The highest ACTH responses to oCRH were obtained for classical CAH patients (126 +/- 29 pmol/L). Plasma cortisol rose after oCRH in control, HT, and NC-CAH patients but did not change in classical CAH. After oCRH, plasma 17-hydroxyprogesterone (17-OHP) were 4 +/- 0.5, 8 +/- 1.6, 93 +/- 28, and 359 +/- 110 nmol/L for controls, HT, NC-CAH, and classical patients, respectively. There was a significant correlation (r = 0.70) between 17-OHP and the ACTH responses to oCRH. The 17-OHP responses to oCRH were also correlated (r = 0.94) with the 17-OHP responses to the synthetic ACTH test. We conclude that the release of endogenous ACTH by oCRH result in graded 17-OHP responses on 21-OH deficiency. The present study also suggests that different degrees of adrenal biosynthetic defect may result in graded ACTH responses to oCRH.
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PMID:Pituitary-adrenal responses to corticotropin-releasing hormone in different degrees of adrenal 21-hydroxylase deficiency. 130 66

The 21-hydroxylation of plasma progesterone (P) has been demonstrated in pregnant, nonpregnant, and adrenalectomized women and in men. The fractional conversion of plasma progesterone to deoxycorticosterone (DOC), [rho]P-DOC BU, among those subjects was 0.009 +/- 0.001 (mean +/- SEM, n = 32). The [rho]P-DOC BU in a woman with congenital adrenal hyperplasia due to apparent adrenal steroid 21-hydroxylase deficiency was 0.010 when she was taking cortisone acetate, and the [rho]P-DOC BU determined when she was not taking cortisone acetate was 0.012. Moreover, the value computed for the fractional conversion of 17 alpha-hydroxyprogesterone to 11-deoxycortisol in this woman (0.004) was similar to that observed in a woman with normal adrenal function (0.005). Therefore, extraadrenal 21-hydroxylase activity in a woman with nonsalt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency was similar to that found in persons with normal adrenal function.
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PMID:Extraadrenal steroid 21-hydroxylase activity in a woman with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. 660 Jan 68

Forms of congenital adrenal hyperplasia resulting from deficient steroid hydroxylation at positions 21, 17 alpha, and 11 beta have several similar clinical and biochemical characteristics. Biochemical diagnosis has been dependent on the demonstration of elevated plasma or urinary concentrations of metabolites of the immediate biosynthetic precursor before the enzymatic block, especially after stimulation with adrenocorticotropin. Aldosterone, 18-hydroxycorticosterone, and 18-hydroxydeoxycorticosterone are not closely involved nor are they immediate precursors of any of these enzymatic defects. However, simultaneous determination of the baseline plasma levels of these steroids in patients with nonsodium-losing 21-hydroxylase deficiency (n = 12), 17 alpha-hydroxylase deficiency (n = 6), and 11 beta-hydroxylase deficiency (n = 2) revealed a consistent and distinct pattern (mean +/- SEM in nanograms per deciliter): aldosterone (28.1 +/- 2.8) and 18-hydroxycorticosterone (84.5 +/- 9.2) levels were elevated and 18-hydroxydeoxycorticosterone (8.0 +/- 0.8) levels were within normal limits in 21-hydroxylase deficiency; 18-hydroxycorticosterone (327.2 +/- 73.9) and 18-hydroxydeoxycorticosterone (236.0 +/- 33.8) levels were elevated and aldosterone (3.5 +/- 0.6) levels were reduced in 17 alpha-hydroxylase deficiency; levels of all three steroids (aldosterone 2.6 +/- 0.4, 18-hydroxycorticosterone 5.1 +/- 3.1, 18-hydroxydeoxycorticosterone 0.9 +/- 0.1) were reduced in 11 beta-hydroxylase deficiency. It is suggested that simultaneous measurement of these three steroids can be useful in identifying and further characterizing each of these forms of congenital adrenal hyperplasia.
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PMID:Distinctive plasma aldosterone, 18-hydroxycorticosterone, and 18-hydroxydeoxycorticosterone profile in the 21-, 17 alpha-, and 11 beta-hydroxylase deficiency types of congenital adrenal hyperplasia. 660 48

Most members of seven families in whom one subject was known to have congenital adrenal hyperplasia due to 21-hydroxylase deficiency were haplotyped for HLA B antigen which was supposed to be linked to the defective gene. Heterozygous males (group 1, n = 9), and females (group 3, n = 8) were recognized. These had no clinical abnormalities. All heterozygotes, as well as eight normal males (group 2) and ten normal females (group 4) received in IM injection of Synacthen. Plasma samples obtained before (PRE) and three hours after (POST) the injection was assayed for cortisol, testosterone, androstenedione, 17-hydroxyprogesterone, and dehydroepiandrosterone. All steroids increased significantly after ACTH except for testosterone. The ratio cortisol/17-OHP (F/17-OHP) decreased in group 1. POST 17-OHP (ng/ml) (x +/- SEM) was higher and F/17-OHP lower in groups 1 and 3 respectively: (5.83 +/- 1.83, 60 +/- 20; 4.53 +/- 1.13, 81 +/- 34) than in groups 2 and 4: (1.95 +/- 0.72, 196 +/- 67; 1.94 +/- 0.65, 269 +/- 167). POST F levels were not different among groups. When the distributions were standardized, individual POST 17-OHP levels of heterozygotes were different from the mean POST 17-OHP of the respective normal group and vice versa. The two normal males from the affected families could also be separated from heterozygous but not from normal males.
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PMID:[Hormonal profile and HLA typing of adult subjects from 7 families with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]. 698 16

Twelve Taiwanese patients with classic congenital adrenal hyperplasia and 86 family members underwent human leukocyte antigen (HLA) genotyping and the 60-minute adrenocorticotropic hormone (ACTH) stimulation test. The baseline serum 17-hydroxyprogesterone level (mean +/- SEM) before ACTH testing was 1.595 +/- 792 nmol/L in homozygotes, 4.6 +/- 0.5 nmol/L in heterozygotes, and 2.1 +/- 0.8 nmol/L in the unaffected group. The stimulated serum 17-hydroxyprogesterone level (mean +/- SEM) was 1.926 +/- 778 nmol/L in homozygotes, 20.6 +/- 0.9 nmol/L in heterozygotes, and 6.8 +/- 0.6 nmol/L in the unaffected group. There was minimal overlap among the heterozygote and unaffected groups. 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.
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PMID:Genotype of classic congenital adrenal hyperplasia and the 60-minute adrenocorticotropic hormone stimulation test. 761 27