Congenital adrenal hyperplasia can manifest itself in a variety of clinical and biochemical abnormalities (Bongiovanni and Root, 1963). The salt-losing tendency in some of these patients can be due to the absence of specific enzymes: dehydrogenases or hydroxylases (Bongiovanni and Root, 1963; Ulick et al., 1964; Visser and Cost, 1964). In addition to the impaired production of certain steroids,...

Hydrocortisone acetate (HA) is a synthetic corticosteroid and is usually employed in the treatment of classic congenital adrenal hyperplasia (CAH), which is a disorder of the adrenal cortex characterized by cortisol deficiency, with or without aldosterone deficiency, and androgen excess [1]. Because five enzymatic steps are involved in cortisol biosynthesis, there are five distinct CAH syndrome...

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease emerging from mutations of genes for enzymes that lead to the biochemical shifts in production glucocorticoids, mineralocorticoids, or sex steroids cholesterol by glands. Universal newborn screening CAH recommended early diagnosis and initiation therapy. The development due a defect CYP21 gene, which encodes 21-hydroxylase e...

Compensatory adrenal growth after unilateral adrenalectomy (ULA) leads to adrenocortical hyperplasia. Because zonal growth contributions are not clear, we characterized the phenotype of cortical cells that proliferate using immunofluorescence histochemistry and zone-specific cell counting. Rats underwent ULA, sham adrenalectomy (sham), or no surgery and were killed at 2 or 5 days. Adrenals were...

UNLABELLED INTRODUCTION We report the case of a patient with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency who presented with unusual anatomical and biochemical features, namely massively enlarged adrenal glands, adrenogenital rest tissue and an unexpected endocrine profile. The contribution of the adrenocortical cells in the adrenals and testicles was determined ...

BACKGROUND Congenital adrenal hyperplasia with apparent combined P450C17 and P450C21 deficiency is associated with accumulation of steroid metabolites, indicating impaired activity of 17alpha-hydroxylase and 21-hydroxylase. However, no mutations have been reported in the CYP17 and CYP21 genes, which encode these P450 enzymes. Affected girls are born with ambiguous genitalia, but their circulati...

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive condition in which deletions or mutations of the cytochrome P450 21-hydroxylase gene cause glucocorticoid and often mineralocorticoid deficiency. Despite optimal substitution therapy, control of classical CAH is often inadequate at puberty, and the problems encountered relate to hypocortisolism and/o...