Steroid 17-hydroxylase and 17, 20-lyase deficiencies, genetic and pharmacologic

RJ Auchus - The Journal of steroid biochemistry and molecular …, 2017 - Elsevier
Abstract Steroid 17-hydroxylase 17, 20-lyase (cytochrome P450c17, P450 17A1, CYP17A1)
catalyzes two major reactions: steroid 17-hydroxylation followed by the 17, 20-lyase …

Cytochrome b 5 augments the 17, 20-lyase activity of human P450c17 without direct electron transfer

RJ Auchus, TC Lee, WL Miller - Journal of Biological Chemistry, 1998 - ASBMB
In the biosynthesis of steroid hormones, P450c17 is the single enzyme that catalyzes both
the 17α-hydroxylation of 21-carbon steroids and the 17, 20-lyase activity that cleaves the C …

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

CE Flück, T Tajima, AV Pandey, W Arlt, K Okuhara… - Nature …, 2004 - nature.com
Deficient activities of multiple steroidogenic enzymes have been reported without and with
Antley-Bixler syndrome (ABS), but mutations of corresponding cytochrome P450 enzymes …

Steroid metabolome analysis in disorders of adrenal steroid biosynthesis and metabolism

KH Storbeck, L Schiffer, ES Baranowski… - Endocrine …, 2019 - academic.oup.com
Steroid biosynthesis and metabolism are reflected by the serum steroid metabolome and, in
even more detail, by the 24-hour urine steroid metabolome, which can provide unique …

The backdoor pathway to dihydrotestosterone

RJ Auchus - Trends in Endocrinology & Metabolism, 2004 - cell.com
Dihydrotestosterone (DHT) is the androgen responsible for formation of the male external
genitalia during embryogenesis and for most androgen-mediated events at male puberty. In …

[PDF][PDF] Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation

CE Flück, M Meyer-Böni, AV Pandey, P Kempná… - The American Journal of …, 2011 - cell.com
Human sexual determination is initiated by a cascade of genes that lead to the development
of the fetal gonad. Whereas development of the female external genitalia does not require …

Genetics of congenital adrenal hyperplasia

N Krone, W Arlt - Best practice & research clinical endocrinology & …, 2009 - Elsevier
Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic
disorders. It comprises a group of autosomal recessive disorders caused by the deficiency of …

Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study

W Arlt, EA Walker, N Draper, HE Ivison, JP Ride… - The Lancet, 2004 - thelancet.com
Background Congenital adrenal hyperplasia with apparent combined P450C17 and
P450C21 deficiency is associated with accumulation of steroid metabolites, indicating …

Human cytochrome P450 enzymes

FP Guengerich - Cytochrome P450: structure, mechanism, and …, 2005 - Springer
Much of P450 research has always been done with the view of appUcation to humans, even
when done with experimental animals and microorganisms. Research with the human …

Minireview: regulation of steroidogenesis by electron transfer

WL Miller - Endocrinology, 2005 - academic.oup.com
Cytochrome P450 enzymes catalyze the degradation of drugs and xenobiotics, but also
catalyze a wide variety of biosynthetic processes, including most steps in steroidogenesis …