Despite numerous studies in the field of congenital adrenal hyperplasia (CAH) due to 21-
hydroxylase deficiency, some clinical variability of the presentation and discrepancies in the …

Substantial research has been performed during the last decades on the clinical and genetic
variability of congenital adrenal hyperplasia (CAH) and its most common form, 21 …

Testicular adrenal rest tumors (TARTs) are common cause of infertility in males with
congenital adrenal hyperplasia (CAH). We studied the role of genotype and disease …

Context Genetic testing for 21-hydroxylase deficiency (21-OHD) is always challenging. The
current approaches of short-read sequencing and multiplex ligation-dependent probe …

Introduction Defects in the steroid 21-hydroxylase gene (CYP21A2) cause 21-hydroxylase
deficiency (21OHD), the main cause of congenital adrenal hyperplasia (CAH). The disease …

Purpose Accurate diagnosis is required for management of Congenital adrenal hyperplasia
(CAH). The conventional method for detection of mutations in the CYP21A2 gene is targeted …

Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency is an autosomal-
recessive disorder caused by mutations in the CYP21A2 gene. The aim of the study was to …

Methods: Fifteen pregnant women at risk of having an affected offspring with CAH were
included in this study. Ten families had previous affected children with salt-wasting/simple …

Abstract Classical 21-hydroxylase deficiency (21-OHD) due to mutations in the cytochrome
P450 family 21 subfamily A member 2 (CYP21A2) gene is the most common type of …

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is
autosomal recessive disorder of cortisol biosynthesis. Genetic defects in CYP21A2 cause …