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Prior to versus after Metformin Treatment—Effects on Steroid Enzymatic Activities
Background: We recently reported that metformin administration has substantial effects on steroid hormone concentrations. In this study, we specifically explored which enzymatic activities were affected before a first treatment versus after a time of ...
Benedikt Gasser+7 more
doaj +1 more source
Molecular genetic testing for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is offered worldwide and is of importance for differential diagnosis, carrier detection and adequate genetic counseling, particularly for family ...
S. Baumgartner-Parzer+2 more
semanticscholar +1 more source
ObjectivesCD8+ T cells targeting 21-hydroxylase (21OH) are presumed to play a central role in the destruction of adrenocortical cells in autoimmune Addison’s disease (AAD).
Alexander Hellesen+22 more
doaj +1 more source
Fertility and body composition after laparoscopic bilateral adrenalectomy in a 30-year-old female with congenital adrenal hyperplasia [PDF]
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by an inborn defect in the 21-hydroxylase gene (CYP21), leading to virilization of female patients and causing ambiguous genitals in the majority of ...
Bonjer, H.J. (Jaap)+5 more
core +6 more sources
Congenital adrenal hyperplasia [PDF]
Congenital adrenal hyperplasia is a disease in which a gene mutation, which is inherited in an autosomal recessive manner, causes a disorder in the synthesis of enzymes that create glucocorticoids, mineralocorticoids, or sex steroids from adrenal ...
Miolski Jelena+2 more
doaj +1 more source
Despite numerous studies in the field of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, some clinical variability of the presentation and discrepancies in the genotype/phenotype correlation are still unexplained. Some, but not all,
M. Kocova, V. Anastasovska, H. Falhammar
semanticscholar +1 more source
21-hydroxylase deficiency and fertility
21-hydroxylase deficiency is the most common genetically determined adrenal steroidogenesis defect. One of the consequences of the disease developing as a result of this defect, congenital dysfunction of the adrenal cortex (CDAC), is a decrease in fertility in the form of infertility or early pregnancy loss.
I. V. Kuznetsova, M. M. Amiraslanova
openaire +3 more sources
No Direct Hydroxylation of Pregnenolone by Steroid 21-Hydroxylase [PDF]
Cytochrome P450s (CYPs) are an essential family of enzymes in the human body. They play a crucial role in metabolism, especially in human steroid biosynthesis. Reactions catalyzed by these enzymes are highly stereo- and regio-specific.
Botrè, Francesco+6 more
core +1 more source
Objective To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency clinical practice guideline published by the Endocrine Society in 2010.
P. Speiser+10 more
semanticscholar +1 more source
Steroid 21-hydroxylase is a major autoantigen involved in adult onset autoimmune Addison's disease [PDF]
An adrenal-specific protein reacting with autoantibodies in the sera of patients with adult onset Addison's disease has been purified from human adrenal glands. The protein, mol.wt.
Baumann-Antczak, A.+8 more
core +1 more source