Searchable abstracts of presentations at key conferences in endocrinology

ea0073aep782 | Late Breaking | ECE2021

Heterozygous 461A> T (p.Asp154Val) Mutation in POR gene in a male case

Müge Keskin , Ahmadova Konul , Nurcanİnce , Narin Nasirogluİmga , Cevdet Ceylan Ahmet , Aydin Cevdet , Topaloglu Oya , Ersoy Reyhan , Cakir Bekir

BackgroundCytochrome P450 oxidoreductase (POR) deficiency is an autosomal recessive steroidogenesis disorder similar to combined deficiencies of 17a-hydroxylase, 17, 20-lyase, 21-hydroxylase. POR deficiency (PORD) is a very rare type of congenital adrenal hyperplasia(CAH) characterized by sexual development disorders and skeletal anomalies. We present a case that was evaluated with a prediagnosis of nonclassical CAH and was found to have a heterozygo...