Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing
enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol …

Recent years have seen significant advances in our understanding of the development and
function of the adrenal gland together with further insights into the physiologic and …

Abstract The cytochrome P450 (P450) enzymes first attracted interest because of their
relevance to the metabolism of drugs, steroids, and carcinogens. Collectively, the 57 human …

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 …

Nonclassic adrenal hyperplasia is most commonly attributable to mutations in CYP21A2
(also termed CYP21) encoding steroid 21-hydroxylase. Partial deficiency of this enzyme …

Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused
by mutations in genes encoding the enzymes involved in one of the 5 steps of adrenal …

Background Although chronic adrenocorticotropic hormone (ACTH) and androgen
hyperstimulation are assumed to be involved in the pathogenesis of adrenal myelolipomas …

The human adrenal gland is composed of the cortex and the medulla. The medulla
produces bioamines, and the adrenal cortex secretes several classes of steroids …

The 21‐hydroxylase deficiency (21OHD) is caused by CYP21A2 mutations resulting in
severe or moderate enzymatic impairments. 21OHD females carrying similar genotypes …

Background In the nonclassical form (NC), good correlation has been observed between
genotypes and 17OH-progesterone (17-OHP) levels. However, this correlation was not …