Steroidogenesis, the processes by which cholesterol is converted to steroid hormones,
involves transport proteins, enzymes, redox partners and cofactors. Most steroidogenic …

Cholesterol homeostasis is critical for normal growth and development. In addition to being
a major membrane lipid, cholesterol has multiple biological functions. These roles include …

The term disorders of sex development (DSD) includes congenital conditions in which
development of chromosomal, gonadal or anatomical sex is atypical. Mutations in genes …

Excess exogenous retinoic acid (RA) has been well documented to have teratogenic effects
in the limb and craniofacial skeleton. Malformations that have been observed in this context …

Congenital adrenal hyperplasia (CAH) is a group of genetic disorders of adrenal
steroidogenesis that impair cortisol synthesis, with compensatory increases in ACTH leading …

The adrenal cortex produces dozens of steroids having varying degrees of glucocorticoid,
mineralocorticoid, and androgenic activity. Cortisol, the principal glucocorticoid, and …

Many nutrients are known for a wide range of activities in prevention and alleviation of
various diseases. Recently, their potential role in regulating human health through effects on …

We review the current knowledge about the “backdoor” pathway for the biosynthesis of
dihydrotestosterone (DHT). While DHT is produced from cholesterol through the …

Human aromatase deficiency is a very rare syndrome characterized by congenital estrogen
deprivation that is caused by loss-of-function mutations in CYP19A1, which encodes …

Abstract Context: Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal
recessive disorder characterized by skeletal dysplasia, adrenal dysfunction, disorders of sex …