A plethora of negative long-term outcomes have been associated with congenital adrenal
hyperplasia (CAH). The causes are multiple and involve supra-physiological gluco-and …

The various clinical outcomes need regular monitoring. Negative consequencies are to
large extent the result of the unphysiological glucocorticoid replacement. Modern …

A compendium is presented of inherited monogenic disorders that have a prevalence of> 1:
20,000 in the human population, along with their causative genes and encoded …

Background Undiagnosed congenital adrenal hyperplasia (CAH) can cause adrenal
incidentalomas, but the frequency is unclear. Objectives This study aimed to investigate the …

Background Hyperandrogenism and supraphysiologic glucocorticoid replacement may lead
to subclinical atherosclerosis in people with congenital adrenal hyperplasia (CAH) and …

Abstract Genetic screening of Congenital Adrenal Hyperplasia (CAH) is known to be
challenging due to the complexities in CYP21A2 genotyping and has not been the first-tier …

Congenital adrenal hyperplasia (CAH) comprises a heterogeneous group of autosomal
recessive disorders impairing adrenal steroidogenesis. Most cases are caused by mutations …

Background: CYP21A2 gene mutations are responsible for more than 95% of Congenital
Adrenal Hyperplasia (CAH) disorders with autosomal recessive inheritance. Most of these …

Purpose The prevalence of CYP21A2 gene variants and genotype-phenotype correlations
are variable among populations. The aim of this study was to characterize CYP21A2 gene …

Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most
frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far …