MON-463 Clinical characteristics of Korean patients with Lipoid Congenital Adrenal Hyperplasia including long-term follow-up: A retrospective, multicenter cohort study

Abstract Disclosure: Y. Lee: SNUH Lee Kun-hee Child Cancer & Rare Disease Project, Republic of Korea. (grant number: 22C-007-0100). M. Kim: SNUH Lee Kun-hee Child Cancer & Rare Disease Project, Republic of Korea. (grant number: 22C-007-0100). Y. Lee: SNUH Lee Kun-hee Child Cancer & Rare Disease Project, Republic of Korea. (grant number: 22C-007-0100). S. Cho: SNUH Lee Kun-hee Child Cancer & Rare Disease Project, Republic of Korea. (grant number: 22C-007-0100). J. Suh: SNUH Lee Kun-hee Child Cancer & Rare Disease Project, Republic of Korea. (grant number: 22C-007-0100). M. Ahn: SNUH Lee Kun-hee Child Cancer & Rare Disease Project, Republic of Korea. (grant number: 22C-007-0100). C. Cheon: SNUH Lee Kun-hee Child Cancer & Rare Disease Project, Republic of Korea. (grant number: 22C-007-0100). H. Lim: SNUH Lee Kun-hee Child Cancer & Rare Disease Project, Republic of Korea. (grant number: 22C-007-0100). C. Kim: SNUH Lee Kun-hee Child Cancer & Rare Disease Project, Republic of Korea. (grant number: 22C-007-0100). S. Chung: SNUH Lee Kun-hee Child Cancer & Rare Disease Project, Republic of Korea. (grant number: 22C-007-0100). W. Cho: SNUH Lee Kun-hee Child Cancer & Rare Disease Project, Republic of Korea. (grant number: 22C-007-0100). C. Shin: SNUH Lee Kun-hee Child Cancer & Rare Disease Project, Republic of Korea. (grant number: 22C-007-0100). Y. Lee: SNUH Lee Kun-hee Child Cancer & Rare Disease Project, Republic of Korea. (grant number: 22C-007-0100). Objective: We investigated clinical characteristics and long-term outcomes of Korean patients with lipoid congenital adrenal hyperplasia (LCAH) Method: Utilizing data from the multicenter Outcomes of Pediatric Rare Endocrine and Metabolic Disease study, we included 31 patients (29 females, 2 males) diagnosed with LCAH, categorized as classic (CLCAH) or nonclassic (NCLCAH). NCLCAH was defined as meeting at least one criterion: 46, XY karyotype with fully male external genitalia, absence of fludrocortisone requirement, or a diagnosis after infancy. Clinical data, medication, and surgical history were collected. Result: The median diagnostic age was 36.5 days (IQR 14.6-120.5), with skin pigmentation observed in 71.0%. Seventeen patients were 46,XX (54.8%). All 29 CLCAH patients, regardless of karyotype, presented as phenotypically female and were diagnosed neonatally. Among the CLCAH patients with XX karyotype, 10 patients experienced spontaneous thelarche at 11.0 years (IQR 8.2, 12.2), and 5 had menarche at 12.4 years (IQR 11.9, 13.2). Two NCLCAH patients with 46,XY karyotype and male external genitalia were diagnosed at 1.6 and 3.3 years due to skin pigmentation, with one showing spontaneous puberty at 10.6 years. A p.Q258X/p.Q258X mutation was identified in 27 patients; NCLCAH cases harbored p.Q258X/p.Val187Met and p.Ala218Val/p.Gly221Ser. Ten patients attained adult height with z-scores for height, weight, and BMI aligning with age-matched averages. All patients required hydrocortisone with an initial dose of 21.7mg/BSA/day (IQR 14.9, 26.5), and 27 patients received fludrocortisone with an initial dose of 0.1mg/day (IQR 0.05-0.1). Conclusion: This study is the first to analyze the long-term outcomes by using data from multicenter in Korea. Presentation: Monday, July 14, 2025