Global disorders of sex development update since 2006: perceptions, approach and care

PA Lee, A Nordenström, CP Houk, SF Ahmed… - Hormone research in …, 2016 - karger.com
The goal of this update regarding the diagnosis and care of persons with disorders of sex
development (DSDs) is to address changes in the clinical approach since the 2005 …

[HTML][HTML] Cytochrome P450 enzymes in drug metabolism: regulation of gene expression, enzyme activities, and impact of genetic variation

UM Zanger, M Schwab - Pharmacology & therapeutics, 2013 - Elsevier
Cytochromes P450 (CYP) are a major source of variability in drug pharmacokinetics and
response. Of 57 putatively functional human CYPs only about a dozen enzymes, belonging …

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 …

NADPH P450 oxidoreductase: structure, function, and pathology of diseases

AV Pandey, CE Flück - Pharmacology & therapeutics, 2013 - Elsevier
Cytochrome P450 oxidoreductase (POR) is an enzyme that is essential for multiple
metabolic processes, chiefly among them are reactions catalyzed by cytochrome P450 …

Steroidogenesis in the fetal testis and its susceptibility to disruption by exogenous compounds

HM Scott, JI Mason, RM Sharpe - Endocrine reviews, 2009 - academic.oup.com
Masculinization depends on adequate production of testosterone by the fetal testis within a
specific “masculinization programming window.” Disorders resulting from subtle deficiencies …

[HTML][HTML] Genetic syndromes associated with craniosynostosis

JM Ko - Journal of Korean Neurosurgical Society, 2016 - synapse.koreamed.org
Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It
leads not only to secondary distortion of skull shape but to various complications including …

The adrenal cortex and its disorders

WL Miller, CE Flück, DT Breault, BJ Feldman - Sperling Pediatric …, 2021 - Elsevier
The adrenal cortex produces dozens of steroids having varying degrees of glucocorticoid,
mineralocorticoid, and androgenic activity. Cortisol, the principal glucocorticoid, and …

Multi-system disorders of glycosphingolipid and ganglioside metabolism

YH Xu, S Barnes, Y Sun, GA Grabowski - Journal of lipid research, 2010 - ASBMB
Glycosphingolipids (GSLs) and gangliosides are a group of bioactive glycolipids that include
cerebrosides, globosides, and gangliosides. These lipids play major roles in signal …

Development and function of the fetal adrenal

E Pignatti, T Du Toit, CE Flück - Reviews in Endocrine and Metabolic …, 2023 - Springer
The adrenal cortex undergoes multiple structural and functional rearrangements to satisfy
the systemic needs for steroids during fetal life, postnatal development, and adulthood. A …

At the crossroads of steroid hormone biosynthesis: the role, substrate specificity and evolutionary development of CYP17

AA Gilep, TA Sushko, SA Usanov - … et Biophysica Acta (BBA)-Proteins and …, 2011 - Elsevier
Cytochrome P450s play critical roles in the metabolism of various bioactive compounds.
One of the crucial functions of cytochrome P450s in Chordata is in the biosynthesis of steroid …