The genetics, pathophysiologx, and management of human deficiencies of P450c17

RJ Auchus - Endocrinology and Metabolism Clinics, 2001 - endo.theclinics.com
P450c17 commands a central role in human steroidogenesis as the qualitative regulator of
steroid hormone flux (Fig. 1). Analysis of P450c17 deficiencies in humans illustrates many …

[HTML][HTML] Adrenal cortex development and related disorders leading to adrenal insufficiency

E Pignatti, CE Flück - Molecular and cellular endocrinology, 2021 - Elsevier
The adult human adrenal cortex produces steroid hormones that are crucial for life,
supporting immune response, glucose homeostasis, salt balance and sexual maturation. It …

Prostaglandin E2 Via Steroidogenic Factor-1 Coordinately Regulates Transcription of Steroidogenic Genes Necessary for Estrogen Synthesis in Endometriosis

E Attar, H Tokunaga, G Imir, MB Yilmaz… - The Journal of …, 2009 - academic.oup.com
Context: Products of at least five specific steroidogenic genes, including steroidogenic acute
regulatory protein (StAR), which facilitates the entry of cytosolic cholesterol into the …

Adrenal corticosteroid biosynthesis, metabolism, and action

W Arlt, PM Stewart - Endocrinology and Metabolism Clinics, 2005 - endo.theclinics.com
Adrenal corticosteroids are essential for life, and an appreciation of the mechanisms
underpinning their synthesis, secretion, and mode of action in normal physiology is essential …

Increased activation of the alternative “backdoor” pathway in patients with 21-hydroxylase deficiency: evidence from urinary steroid hormone analysis

C Kamrath, Z Hochberg, MF Hartmann… - The Journal of …, 2012 - academic.oup.com
Background: 17-Hydroxyprogesterone (17-OHP) can be converted to dihydrotestosterone
(DHT) via an alternative “backdoor” route that bypasses the conventional intermediates …

The roles of cytochrome b5 in cytochrome P450 reactions

TD Porter - Journal of biochemical and molecular toxicology, 2002 - Wiley Online Library
Abstract Cytochrome b5, a 17‐kDa hemeprotein associated primarily with the endoplasmic
reticulum of eukaryotic cells, has long been known to augment some cytochrome P450 …

Roles of NADPH-P450 reductase and apo-and holo-cytochrome b5 on xenobiotic oxidations catalyzed by 12 recombinant human cytochrome P450s expressed in …

H Yamazaki, M Nakamura, T Komatsu… - Protein expression and …, 2002 - Elsevier
Drug oxidation activities of 12 recombinant human cytochrome P450s (P450) coexpressed
with human NADPH-P450 reductase (NPR) in bacterial membranes (P450/NPR …

Steroidogenic enzymes

WL Miller - Disorders of the human Adrenal cortex, 2008 - karger.com
The enzymes and pathways of steroidogenesis are familiar to most endocrinologists, but the
biochemistry and molecular biology of these processes are still being studied. This chapter …

Androgen excess: Investigations and management

D Lizneva, L Gavrilova-Jordan, W Walker… - Best practice & research …, 2016 - Elsevier
Androgen excess (AE) is a key feature of polycystic ovary syndrome (PCOS) and results in,
or contributes to, the clinical phenotype of these patients. Although AE will contribute to the …

Congenital adrenal hyperplasia: time to replace 17OHP with 21-deoxycortisol

WL Miller - Hormone research in paediatrics, 2019 - karger.com
Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency (21OHD)
has a worldwide incidence of 1 in 15–20,000. Affected individuals have adrenal insufficiency …