Searchable abstracts of presentations at key conferences in endocrinology

ea0081p185 | Reproductive and Developmental Endocrinology | ECE2022

Management of 46, XY 17 alpha-hydroxylase deficiency: a case report

Bouca Bruno , Cascao Mariana , Fiuza Pedro , Amaral Sara , Bogalho Paula , Silva-Nunes Jose

Introduction: 17 alpha-hydroxylase deficiency (17OHD) is a rare autosomal recessive disease caused by mutations in the CYP17A gene, representing 1% of cases of Congenital Adrenal Hyperplasia (CAH). The accumulation of mineralocorticoids and the glucocorticoid effect of corticosterone induce high blood pressure (HBP) and hypokalemia.Clinical Case: A 44 year-old female reporting HBP since the age of 20 years and without chronic medication, presented at the...