... 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 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...

...), immune modulation, reduction in sebum secretion, and bactericidal effects. Although limited studies exist, PDT for treatment of SG hyperplasia has also been found to be effective. Calls for reduction in antibiotic use by the Centers for Disease Control, the President of the United States, and the thought...

... 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 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...

... Abstract Non-classic adrenal hyperplasia (NCAH) is a disease in which a partial deficiency of the steroidogenic enzyme 21-hydroxylase produces mild to moderate hyperandrogenemia, hirsutism, polycystic ovaries, oligomenorrhea or amenorrhea, insulin resistance, male pattern baldness...

...-930 2. Verhamme KM, Dieleman JP, Bleumink GS, van der Lei J, Sturkenboom MC, Artibani W: Incidence and prevalence of lower urinary tract symptoms suggestive of benign prostatic hyperplasia in primary care — the Triumph project. Eur Urol 2002;42:323-328 3. Stranne J, Damber JE, Fall M...

... 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...

..., XY patients also a disorder of sex development is prevalent with hypospadias to complete female phenotype. P450scc deficiency is the differential diagnosis of congenital lipoid adrenal hyperplasia caused by mutations in the steroidogenic acute regulatory protein, however, in contrast to the latter...

... 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...

... Abstract Congenital adrenal hyperplasia is a group of monogenic autosomal recessive disordersdue to an enzyme deficiency in steroid biosynthesis. The most frequent form of congenitaladrenal hyperplasia is 21-hydroxylase (21-OH) deficiency, which in its severe form cancause ambiguous genitalia...

... 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...