Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review
Sexes, 2023 Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal recessive disorders due to defects in adrenal steroid biosynthesis. In about 90% of patients, CAH is caused by pathogenetic variants in CYP21A2 gene, impairing the function of 21 ...
Giulia Bertolucci +7 more
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Classic and current concepts in adrenal steroidogenesis: a reappraisal
Archives of Endocrinology and Metabolism, 2022 Adrenal steroid biosynthesis and its related pathology are constant evolving disciplines. In this paper, we review classic and current concepts of adrenal steroidogenesis, plus control mechanisms of steroid pathways, distribution of unique enzymes and ...
Claudio E. Kater +2 more
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No Direct Hydroxylation of Pregnenolone by Steroid 21-Hydroxylase [PDF]
, 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
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Steroid 21-hydroxylase is a major autoantigen involved in adult onset autoimmune Addison's disease [PDF]
, 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
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Clinical and molecular review of atypical congenital adrenal hyperplasia [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2015 Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the mutations in the genes encoding for steroidogenic enzymes that involved cortisol synthesis ...
Taninee Sahakitrungruang
doaj +1 more source
Structure of human steroid 21-hydroxylase genes. [PDF]
Proceedings of the National Academy of Sciences, 1986 We have determined the structure of cDNA and two genomic genes encoding steroid 21-hydroxylase [21-OHase; steroid 21-monooxygenase; steroid, hydrogen-donor:oxygen oxidoreductase (21-hydroxylating); EC 1.14.99.10]. If this cytochrome P-450 enzyme is defective, cortisol cannot be synthesized, resulting in congenital adrenal hyperplasia. The cDNA encoding
Bo Dupont, Maria I. New, Perrin C. White
openaire +3 more sources
Szteroid-21-hidroxiláz-deficientia, a congenitalis adrenalis hyperplasia leggyakoribb oka [PDF]
, 2018 : Congenital adrenal hyperplasia is a group of genetic diseases due to the disablement of 7 genes; one of them is steroid 21-hydroxylase deficiency. The genes of congenital adrenal hyperplasia encode enzymes taking part in the steroidogenesis of adrenal ...
Doleschall, Márton +13 more
core +2 more sources
Journal of Family Medicine and Primary Care, 2020 Background: The primary aim of treating congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency is to replace the deficient glucocorticoids and mineralocorticoids, to minimize the excess androgen production and to facilitate normal growth ...
Vasantha Singarayan +3 more
doaj +1 more source
Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia [PDF]
, 1999 Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders, causing impaired secretion of cortisol and aldosterone from the adrenal cortex, with subsequent overproduction of adrenal androgens.
Barta, Csaba +8 more
core +1 more source
Functional consequences of seven novel mutations in the CYP11B1 Gene: four mutations associated with nonclassic and three mutations causing classic 11 -Hydroxylase Deficiency [PDF]
, 2010 Context: Steroid 11β-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Cases of nonclassic 11OHD are rare compared with the incidence of nonclassic 21-hydroxylase deficiency.
Araujo-Vilar, D. +18 more
core +2 more sources