Results 11 to 20 of about 19,474 (186)
Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2016 The term congenital adrenal hyperplasia (CAH) covers a group of autosomal recessive disorders caused by defects in one of the steroidogenic enzymes involved in the synthesis of cortisol or aldosterone from cholesterol in the adrenal glands. Approximately
Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo
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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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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
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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
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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
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Exploring the Potential of Sulfur Moieties in Compounds Inhibiting Steroidogenesis
Biomolecules, 2023 This study reports on the synthesis and evaluation of novel compounds replacing the nitrogen-containing heterocyclic ring on the chemical backbone structure of cytochrome P450 17α-hydroxylase/12,20-lyase (CYP17A1) inhibitors with a phenyl bearing a ...
Tomasz M. Wróbel +16 more
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JCRPE, 2021 Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), usually due to biallelic variants in CYP21A2. Classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in females ...
Tuğba Kontbay, İhsan Turan
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Monitoring treatment in pediatric patients with 21-hydroxylase deficiency
Frontiers in Endocrinology, 2023 21-hydroxylase deficiency (21-OHD) is the most common form of congenital adrenal hyperplasia. In most developed countries, newborn screening enables diagnosis of 21-OHD in asymptomatic patients during the neonatal period.
Tomoyo Itonaga +2 more
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Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant
Frontiers in Pediatrics, 2020 Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes (cholesterol side-chain cleavage enzyme; 3β-hydroxysteroid dehydrogenase; 17α-hydroxylase/17,20 lyase; P450 oxidoreductase; 21 ...
Antonio Balsamo +7 more
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