hrp0092p2-273 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Spectrum of Genital Abnormalities in Robinow Syndrome: Case Series

Mahfouz shaymaa , Marzouk Eman

Introduction: Robinow syndrome is a rare genetic disorder characterized by mesomelic dwarfism, characteristic facial features, skeletal abnormalities and external genital abnormalities. Genital abnormalities may be noted in these patients and may cause confusion in gender assignment. In males, the characteristic pattern is micropenis with or without cryptorchidism, webbed penis or hypoplastic scrotum. In females, the anatomical defect is not always evident.The...

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...