ESPE Abstracts

Introduction: Congenital lipoid adrenal hyperplasia (lipoid CAH), is a rare subtypes of adrenal hyperplasia yet the most fatal form, which seriously disrupts adrenal and gonadal steroidogenesis by a defect in the conversion of cholesterol to pregnenolone. Affected patients show salt loss from impaired mineralocorticoid and glucocorticoid synthesis. The defect in lipoid CAH is mainly in the steroidogenic acute regulatory protein (StAR), which promotes entry of ...

Introduction: Congenital Adrenal Hyperplasia (CAH) encompasses a spectrum of genetic disorders resulting from enzyme deficiencies that impair adrenal steroidogenesis. The most common forms are due to 21-hydroxylase and 11-beta-hydroxylase deficiencies, each presenting with distinct clinical and hormonal profiles.Aim: This study aims to compare the clinical presentations and laboratory findings in Egyptian pediatric patie...

Background: Congenital Adrenal Hyperplasia (CAH) is characterized by various enzyme deficiencies, notably 11-Beta-Hydroxylase Deficiency (11OHD) and 21-Hydroxylase Deficiency (21OHD), each affecting growth and hormonal levels differently. This study aim ed to compare the anthropometric and hormonal profiles of pediatric patients affected by these two conditions.Methods: The clinical records of pediatric patients diagnose...