More than 90% of cases of congenital adrenal hyperplasia (CAH, the inherited inability to
synthesize cortisol) are caused by 21-hydroxylase deficiency. Females with severe, classic …

BACKGROUND Non-classic congenital hyperplasia (NCAH) due to 21-hydroxylase
deficiency is a common autosomal recessive disorder characterized by androgen excess …

Over the last two decades, we have extensively studied the genetics of congenital adrenal
hyperplasia caused by 21-hydroxylase deficiency (CAH) and have performed 8,290 DNA …

Molecular genetic testing for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase
deficiency (21-OHD) is offered worldwide and is of importance for differential diagnosis …

Background: Genetic analysis is commonly performed in patients with congenital adrenal
hyperplasia (CAH) due to 21-hydroxylase deficiency. Study Objective: The objective of the …

Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders
caused by complete or partial defects in one of the several steroidogenic enzymes involved …

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of
adrenal steroidogenesis. Disorders in steroid 21‐hydroxylation account for over 95% of …

Prenatal virilization of female fetuses is a serious symptom associated with severe
congenital adrenal hyperplasia. In attempt to avoid sexual ambiguity, prenatal treatment of …

To evaluate genotyping as a diagnostic complement to neonatal screening for congenital
adrenal hyperplasia, 91 children who had been diagnosed with this condition between 1986 …

Context: Steroid 21-hydroxylase deficiency is the most common enzymatic defect causing
congenital adrenal hyperplasia with genotype/phenotype relationships for common …