... Abstract Deficiency of the 21-hydroxylase enzyme is the most common form of congenital adrenal hyperplasia (CAH), accounting for more than 95% of the cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into adulthood. Adolescents...

... Abstract Congenital adrenal hyperplasia (CAH) describes a family of disorders that comes from enzymatic deficiencies in cortisol production, with 21-hydroxylase deficiency causing ∼90% of cases. Distinction is made between the severe classical form and milder nonclassical form of CAH. Molecular...

... Abstract The disturbance of the hypothalamic-pituitary- adrenal axis characteristic of congenital adrenal hyperplasia (CAH) due to 21- hydroxylase deficiency (21- OHD) is likely to affect brain development, yet neuroanatomic work is only beginning. Fetal hyperandrogenemia in 46, XX 21- OHD...

... Abstract A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially...

... Abstract Prenatal treatment of congenital adrenal hyperplasia (CAH) with dexamethasone (DEX) has been in use since the mid- 1980s. Its effectiveness for reducing virilization of external genitalia is well established. DEX treatment has to be started in the 6th–7th postmenstrual week...

... Abstract Congenital Adrenal Hyperplasias (CAH) are genetic diseases transmitted in an autosomal recessive way and these diseases affect many aspects of human health. The majority of CAH cases is due to a deficiency in 21-hydroxylase as a result of the existence of mutations in both alleles...

... Abstract Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. Thesymptoms and signs of CAH depend on the degree of enzyme deficiency; severe salt-wasting(SW) form, less severe simple virilizing (SV) form and mild nonclassic (NC) form. In thispaper, puberty...

... Abstract The steroidogenic acute regulatory (StAR) protein is essential for all hormone-stimulated steroid biosynthesis. Accordingly, its absence gives rise to the most severe form of congenital adrenal hyperplasia (CAH), lipoid CAH. This life-threatening condition typically manifests itself...

... Abstract This chapter refers only to female patients with congenital adrenal hyperplasia (CAH). CAH represents the largest subgroup of individuals with 46,XX disorders of sex development. The stimulation of the androgen production leads to a prenatal virilization among these girls...

... present, which is determined by gene transcription. Mutations in StAR cause congenital lipoid adrenal hyperplasia (lipoid CAH), characterized by absent steroidogenesis, potentially lethal salt loss, 46, XY sex reversal and massively enlarged adrenals engorged with cholesterol esters.Non-classic lipoid CAH...

... Abstract Although there are many erudite reports on the history of endocrinology and endocrine disorders, the history of congenital adrenal hyperplasia has not been published. I have tried to review ancient as well as modern history of CAH. Most endocrinologists regard Giuseppe Marzo...

... Abstract Prenatal treatment of congenital adrenal hyperplasia (CAH) with dexamethasone to minimize the genital virilizationof external genitalia of affected girls has been in use since the mid-1980s. The positive effect of reducingvirilization is now established. However, experimental data from...