Congenital adrenal hyperplasias (CAH) are inherited defects of cortisol biosynthesis. More
than 90% of CAH are caused by 21-hydroxylase deficiency (21-OHD), found in 1: 10 000 to …

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

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 …

We performed molecular genetic analysis of 24 subjects from 19 families with 17-
hydroxylase deficiency in Brazil. Of 7 novel CYP17 mutations, 2 (W406R and R362C) …

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most
common autosomal recessive disorders. The aim of this study was to assess the frequencies …

The deficiency of 21-hydroxylase due to CYP21A2 pathogenic variants is a rather frequent
disease with serious consequences, going from a real mortality risk to infertility and to milder …

Adrenal insufficiency in paediatric patients is mostly due to congenital adrenal hyperplasia
(CAH), a severe monogenic disease caused by steroid 21-hydroxylase deficiency (21-OHD …

Background Most congenital adrenal hyperplasia (CAH) patients carry CYP21A2 mutations
derived from conversion events involving the pseudogene, and the remaining carry new …

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