Searchable abstracts of presentations at key conferences in endocrinology

ea0081ep886 | Reproductive and Developmental Endocrinology | ECE2022

Delayed puberty with a novel mutation in the p450 oxido reductase gene

Kudugunti Neelaveni , Aakiti Dr Datta Reddy , Sahay Rakesh

P450 Oxidoreductase (POR) deficiency is a rare autosomal recessive disorder of steroidogenesis with varied clinical presentation. POR is the electron donor for all microsomal enzymes involved in steroidogenesis namely P450c 17(17 hydroxylase/17,20 lyase), P450c 21 (21 –hydroxylase), and P450 aro(aromatase). POR deficiency can cause genital ambiguity in both sexes, impaired steroidogenesis and skeletal malformations. Here we present a patient with ovarian cysts and delayed...