hrp0097p2-312 | Late Breaking | ESPE2023

Clinical and Genotypic characteristics of cases of Congenital Adrenal Hyperplasia due to 11- Beta Hydroxylase Deficiency at Alexandria University Children’s Hospital

Elsayed Shaymaa , Alaa Eldin Thabet Mohamed , Marzouk Eman , Elneely Dalia , Fawzy Dina

Introduction: 11-Beta-hydroxylase deficiency (CYP11B1) is the second most common cause of Congenital Adrenal Hyperplasia (CAH). Although the relative frequency of 11-OHD is reported as 3-5% of the cases of CAH, these numbers may have been somewhat underestimated.(1,2) The resultant clinical picture in 11-OHD is similar to that of 21-OHD, except for the variable presence of hypertension and hypokalemia due to DOC excess.(2,3)Aim o...