Congenital adrenal hyperplasia consists of a heterogenous group of inherited disorders due to enzymatic defects in the biosynthetic pathway of cortisol and/or aldosterone. This results in glucocorticoid deficiency, mineralocorticoid deficiency, and androgen excess. 95% of CAH cases are due to 21-hydroxylase deficiency. Clinical forms range from the severe, classical CAH associated with complete...

Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries ...

Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females...

The incidence of congenital adrenal hyperplasia in Saudi Arabia and the frequency of the carrier rate are not well known. Both figures should be high, considering the commonness of first-degree consanguinity in this part of the world. We present 25 cases of congenital adrenal hyperplasia, most of them due to a defect of the 21 hydroxylase enzyme, diagnosed and followed over three years at Sulei...

BACKGROUND The early morphogenetic steps of zebrafish interrenal tissue, the teleostean counterpart of the mammalian adrenal gland, are modulated by the peri-interrenal angioblasts and blood vessels. While an organized distribution of intra-adrenal vessels and extracellular matrix is essential for the fetal adrenal cortex remodeling, whether and how an intra-interrenal buildup of vasculature an...

This protocol introduces how to detect differentiated interrenal steroidogenic cells through a simple whole-mount enzymatic activity assay. Identifying differentiated steroidogenic tissues through chromogenic histochemical staining of 3-β-Hydroxysteroid dehydrogenase /Δ5-4 isomerase (3β-Hsd) activity-positive cells is critical for monitoring the morphology and differentiation of adrenocortical ...

amenorrhea, an absence of menses is a symptom that generally brings teenagers for evaluation. this study was undertaken to determine the etiology of primary amenorrhea with especial concern to non classic congential adrenal hyperplasia (nc-cah)-due 21 hydroxylase deficiency among female adolescents refered to clinics of pediatric endocrinology of tehran and iran university of medical sciences a...

Congenital adrenal hyperplasia (CAH), also termed adrenogenital syndrome in older literature, is a common inherited form of adrenal insufficiency. This group of diseases is due to mutations (genetic defects) in the genes coding for several enzymes needed for the production of adrenal cortex hormones. About 95% of cases of CAH are caused by 21-hydroxylase deficiency. This enzyme is necessary for...

Cogenital adrenal hyperplasia (CAH) is a family of genetic disorders from a deleterious mutation in a gene encoding adrenal steroidogenic enzyme essential for cortisol biosynthesis. Recent molecular advances have provided the genetic basis for the phenotypic variability in CAH, a means for accurately genotyping family members of CAH patients including prenatal prediction of the genotype in fetu...

PURPOSE OF REVIEW Late-onset or nonclassic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence ranges from 1 in 30 to 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess. The purpose of this review is to provide current information regarding the pathophysiol...