Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic
disorders. It comprises a group of autosomal recessive disorders caused by the deficiency of …

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 …

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 …

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 …

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 …

North Africa is defined as the geographical region separated from the rest of the continent by
the Sahara and from Europe by the Mediterranean Sea. The main demographic features of …

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

Abstract Background Tunisia is a North African country of 10 million inhabitants. The native
background population is Berber. However, throughout its history, Tunisia has been the site …

Enhanced understanding of structure-function relationships of human 21-hydroxylase,
CYP21, is required to better understand the molecular causes of congenital adrenal …