ea0063gp96 | Adrenal and Neuroendocrine - Basic | ECE2019
Anselmi Federica
, Alfano Sara
, Improda Nicola
, Di Mase Raffaella
, Alexander Wudy Stefan
, Parenti Giancarlo
, Baldazzi Lilia
, Menabo Soara
, Capalbo Donatella
, Salerno Mariacarolina
Background: P450 Oxidoreductase (POR) Deficiency(PORD) represents the most complex form of congenital adrenal hyperplasia. It usuallycauses genital ambiguity in both sexes, and eventually peculiar skeletal malformations resembling Antley-Bixler syndrome. Co-occurrence of POR deficiency and Argininosuccinatelyase Deficiency (ALD)in the samepatient born to non-consanguineous parents has never been reported.Case report: A male patient was born at term to no...