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
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Journal of Clinical Endocrinology and Metabolism, 2010 OBJECTIVE We developed clinical practice guidelines for congenital adrenal hyperplasia (CAH). PARTICIPANTS The Task Force included a chair, selected by The Endocrine Society Clinical Guidelines Subcommittee (CGS), ten additional clinicians experienced ...
P. Speiser +11 more
semanticscholar +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
The "backdoor pathway" of androgen synthesis in human male sexual development. [PDF]
, 2019 Mammalian sex determination (male versus female) is largely controlled by genes, whereas sex differentiation (development of reproductive structures) is largely controlled by hormones. Work in the 20th century indicated that female external anatomy was a
Auchus, Richard J, Miller, Walter L
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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
doaj +1 more source
Comparison of Cholesterol Lowering Diets: Apple, Casein Cytochrom P450 protein and Cholesterol 7α Hydroxylase Activities in Hamsters [PDF]
, 2010 Lithogenic diet, casein and apple fiber diets were fed to hamsters for 3-5 weeks. For control group, animals were fed on normal Purina chow without any supplement.
Rakesh Sharma, Rakesh K. Tandon
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Effect of hyperthyroidism on circulating prolactin and hypothalamic expression of tyrosine hydroxylase, prolactin signaling cascade members and estrogen and progesterone receptors during late pregnancy and lactation in the rat [PDF]
, 2017 Hyperthyroidism (HyperT) compromises pregnancy and lactation, hindering suckling-induced PRL release. We studied the effect of HyperT on hypothalamic mRNA (RT-qPCR) and protein (Western blot) expression of tyrosine hydroxylase (TH), PRL receptor (PRLR ...
Jahn, Graciela Alma +4 more
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Non-skeletal activities of vitamin d: From physiology to brain pathology [PDF]
, 2019 Vitamin D is a secosteroid hormone regulating the expression of almost 900 genes, and it is involved in the regulation of calcium and phosphate metabolism, immune response, and brain development.
Bruna Lo Sasso +6 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
doaj +1 more source
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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