Results 11 to 20 of about 26,513 (179)
Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency
JCRPEAlthough the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21-OHD), which accounts for more than 95% of cases, other rare causes of CAH such as 11-beta-hydroxylase deficiency (11β-OHD), 3-beta ...
Mehmet İsakoca +2 more
doaj +2 more sources
J Clin Endocrinol Metab, 2018 Objective: To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency clinical practice guideline published by the Endocrine Society in 2010.Conclusions: The writing committee presents updated best practice guidelines for the ...
Speiser PW +10 more
europepmc +2 more sources
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
doaj +1 more source
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.
Loke, Steffen +6 more
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Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency. [PDF]
Proceedings of the National Academy of Sciences, 1991 Haplotypes of the complement 4 (C4) and steroid 21-hydroxylase [21-OHase; steroid hydrogen-donor: oxygen oxidoreductase (21-hydroxylating), EC 1.14.99.10] repeated gene complex were studied in nine families with at least one member affected with a mild form of 21-OHase deficiency.
B, Haglund-Stengler +3 more
openaire +2 more sources
, 2022 Contains supplemental data related to the paper "Steroid profiling in the amniotic fluid: reference range for 12 steroids and interest in 21-hydroxylase deficiency." published in JCEM.
Claude Bernard Lyon 1 University +1 more
core +3 more sources
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
doaj +1 more source
Multiplicity of 3-Ketosteroid-9α-Hydroxylase Enzymes in Rhodococcus rhodochrous DSM43269 for Specific Degradation of Different Classes of Steroids [PDF]
, 2011 The well-known large catabolic potential of rhodococci is greatly facilitated by an impressive gene multiplicity. This study reports on the multiplicity of kshA, encoding the oxygenase component of 3-ketosteroid 9α-hydroxylase, a key enzyme in steroid ...
Petrusma, Mirjan +12 more
core +1 more source
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
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