Congenital adrenal hyperplasia—current insights in pathophysiology, diagnostics, and management

HL Claahsen-van der Grinten, PW Speiser… - Endocrine …, 2022 - academic.oup.com
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting
cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to …

[HTML][HTML] Human steroid biosynthesis, metabolism and excretion are differentially reflected by serum and urine steroid metabolomes: A comprehensive review

L Schiffer, L Barnard, ES Baranowski… - The Journal of steroid …, 2019 - Elsevier
Advances in technology have allowed for the sensitive, specific, and simultaneous
quantitative profiling of steroid precursors, bioactive steroids and inactive metabolites …

Mechanisms of cytochrome P450-catalyzed oxidations

FP Guengerich - ACS catalysis, 2018 - ACS Publications
Enzymes are complex biological catalysts and are critical to life. Most oxidations of
chemicals are catalyzed by cytochrome P450 (P450, CYP) enzymes, which generally utilize …

11-Oxygenated androgens in health and disease

AF Turcu, J Rege, RJ Auchus, WE Rainey - Nature Reviews …, 2020 - nature.com
The adrenal gland is a source of sex steroid precursors, and its activity is particularly
relevant during fetal development and adrenarche. Following puberty, the synthesis of …

Recent structural insights into cytochrome P450 function

FP Guengerich, MR Waterman, M Egli - Trends in pharmacological …, 2016 - cell.com
Cytochrome P450 (P450) enzymes are important in the metabolism of drugs, steroids, fat-
soluble vitamins, carcinogens, pesticides, and many other types of chemicals. Their catalytic …

The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders

WL Miller, RJ Auchus - Endocrine reviews, 2011 - academic.oup.com
Steroidogenesis, the processes by which cholesterol is converted to steroid hormones,
involves transport proteins, enzymes, redox partners and cofactors. Most steroidogenic …

Human cytochromes P450 in health and disease

DW Nebert, K Wikvall, WL Miller - … Transactions of the …, 2013 - royalsocietypublishing.org
There are 18 mammalian cytochrome P450 (CYP) families, which encode 57 genes in the
human genome. CYP2, CYP3 and CYP4 families contain far more genes than the other 15 …

Steroid hormone synthesis in mitochondria

WL Miller - Molecular and cellular endocrinology, 2013 - Elsevier
Mitochondria are essential sites for steroid hormone biosynthesis. Mitochondria in the
steroidogenic cells of the adrenal, gonad, placenta and brain contain the cholesterol side …

Formation and cleavage of C–C bonds by enzymatic oxidation–reduction reactions

FP Guengerich, FK Yoshimoto - Chemical Reviews, 2018 - ACS Publications
Many oxidation–reduction (redox) enzymes, particularly oxygenases, have roles in reactions
that make and break C–C bonds. The list includes cytochrome P450 and other heme-based …

Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones

AH Payne, DB Hales - Endocrine reviews, 2004 - academic.oup.com
Significant advances have taken place in our knowledge of the enzymes involved in steroid
hormone biosynthesis since the last comprehensive review in 1988. Major developments …