Results 21 to 30 of about 2,389,640 (367)

Prior to versus after Metformin Treatment—Effects on Steroid Enzymatic Activities

open access: yesLife, 2023
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

EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

open access: yesEuropean Journal of Human Genetics, 2020
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

21-Hydroxylase-Specific CD8+ T Cells in Autoimmune Addison’s Disease Are Restricted by HLA-A2 and HLA-C7 Molecules

open access: yesFrontiers in Immunology, 2021
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]

open access: yes, 2001
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]

open access: yesMedicinski Podmladak, 2021
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

Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

open access: yesEndocrine, 2020
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

open access: yesMedical alphabet, 2020
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]

open access: yes, 2021
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

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.

open access: yesJournal of Clinical Endocrinology and Metabolism, 2018
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]

open access: yes, 1992
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

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