hrp0098p1-112 | Adrenals and HPA Axis 2 | ESPE2024

Clinical characteristics and follow-up course of patients with 17α-hydroxylase/17,20-lyase deficiency in Korea: OUTSPREAD study

Young Kim Ka , Jee Kim Min , Kun Cheon Chong , Hwan Suh Jung , Yoon Cho Sung , Ah Lee Young , Ho Shin Choong , Jeong Lee Yun

Background: 17 α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, characterized by cortisol deficiency, sex steroid deficiency, and mineralocorticoid excess. We aimed to investigate the clinical presentations and follow-up course of Korean patients with 17OHD from longitudinal cohort.Methods: Clinical and biochemical data of 15 patients diagnosed with 17OHD during 1988-20...