hrp0094p2-37 | Adrenals and HPA Axis | ESPE2021
, Smyrnaki Smyrnaki Penelope
, Sertedaki Amalia
, Kanaka-Gantenbein Christina
Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by pathogenic variants in seven genes involved in the cortisol and aldosterone biosynthetic pathway. The second most common cause of CAH, 11β-hydroxylase deficiency (11βOHD), is attributed to pathogenic variants in the CYP11B1gene encoding for the enzyme 11β-hydroxylase (11βOH).Case presentation: A thirteen-year-old g...