Steroid analysis has always been complicated requiring a clear understanding of both the
clinical and analytical aspects in order to accurately interpret results. The literature relating …

The management of disorders of sex development (DSD) has been a problem area for
years, partly because clinicians have started to see that not all of their patients grow up to be …

Introduction Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder
affecting adrenal steroid synthesis. In this study, the authors aim to evaluate the impact of …

Despite decades of different treatment algorithms, the management of congenital adrenal
hyperplasia (CAH) remains clinically challenging. This is due to the inherent difficulty of …

Übersicht: Eine männliche Geschlechtszuweisung bei XX-chromosomalen Personen mit
Adrenogenitalem Syndrom (AGS) gilt als umstritten. Die Autorinnen berichten von einer …

Introduction: Congenital adrenal hyperplasia (CAH) due to 21α-hydroxylase deficiency
results in inadequate cortisol and aldosterone synthesis and concomitant overproduction of …

Background: CAH, most often due to a molecular defect in the 21-OH enzyme, results in
inadequate cortisol production and subsequent life-long GC replacement. Aims: To heighten …

Background It has been suggested that overtreatment of infants with congenital adrenal
hyperplasia (CAH) due to 21-hydroxylase deficiency might affect their growth and final …

In January, 2010, a 60-year-old non-smoking, white man with mild intellectual disability,
presented with acuteonset diplopia and ataxic gait. There was no consanguinity or relevant …