{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T04:12:39Z","timestamp":1788754359104,"version":"build-2803163510"},"reference-count":32,"publisher":"Korean Endocrine Society","issue":"4","license":[{"start":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T00:00:00Z","timestamp":1779753600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Seoul National University Hospital Lee Kun-hee Child Cancer & Rare Disease Project","award":["22C-007-0100"],"award-info":[{"award-number":["22C-007-0100"]}]}],"content-domain":{"domain":["e-enm.org"],"crossmark-restriction":true},"short-container-title":["Endocrinol Metab"],"published-print":{"date-parts":[[2026,8,31]]},"abstract":"<jats:p>Background: Clinical characteristics and follow-up outcomes were examined in Korean patients with lipoid congenital adrenal hyperplasia (LCAH) enrolled in the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) cohort.Methods: Thirty-one patients (classic LCAH [C-LCAH], n=29; nonclassic LCAH [NC-LCAH], n=2) from 10 centers were included. NC-LCAH was defined by any of the following: 46,XY karyotype with male external genitalia, no fludrocortisone use, or diagnosis after infancy.Results: Median age at diagnosis was 36.5 days (interquartile range [IQR], 14.6 to 120.5); salt-wasting occurred in 58.6% of patients, and skin hyperpigmentation was the most common clinical feature (71%). All C-LCAH patients (STAR variants: p.Q258*\/p.Q258* [n=27], p.Q258*\/p.Arg182His [n=1], p.Q258*\/p.Arg182Cys [n=1]; karyotypes: 46,XX [n=17], 46,XY [n=12]) were diagnosed in infancy with a female phenotype. Among C-LCAH patients with 46,XX, 11 had spontaneous thelarche (median, 11.0 years; IQR, 8.2 to 12.2) and five reached menarche (median, 12.4 years; IQR, 11.9 to 13.2). Among eight C-LCAH-XX patients who underwent ultrasonography, three had unilocular ovarian cysts, including one rupture. Two NC-LCAH patients (p.Q258*\/p.Val187Met and p.Ala218Val\/p.Gly221Ser; both 46,XY) were diagnosed at 1.6 and 3.3 years with male external genitalia; one had spontaneous puberty at 10.6 years. Eight patients reached adult height (Z-score, 0.1; IQR, \u22120.9 to 1.2). The hydrocortisone dose was 21.7 mg\/m2 (IQR, 14.9 to 26.5) at diagnosis and 17.3 mg\/m2 (IQR, 13.9 to 22.7) at last follow-up (median age, 11.6 years; IQR, 8.9 to 17.4).Conclusion: This is the first large-scale multicenter investigation in Korea reporting long-term outcomes of LCAH. Continued longitudinal follow-up focusing on pubertal development and reproductive outcomes is warranted.<\/jats:p>","DOI":"10.3803\/enm.2025.2611","type":"journal-article","created":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T07:48:40Z","timestamp":1779781720000},"page":"566-578","update-policy":"https:\/\/doi.org\/10.3803\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Characteristics and Outcomes of Korean Patients with Lipoid Congenital Adrenal Hyperplasia: An Analysis of Data from the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) Cohort Study"],"prefix":"10.3803","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4702-3977","authenticated-orcid":true,"given":"Yoonha","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics, CHA Bundang Medical Center, CHA University, Seongnam, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3617-7823","authenticated-orcid":true,"given":"Minsun","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jeonbuk National University Medical School, Jeonju, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2847-2643","authenticated-orcid":true,"given":"Yun Jeong","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2913-059X","authenticated-orcid":true,"given":"Sung Yoon","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2092-2585","authenticated-orcid":true,"given":"Junghwan","family":"Suh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Severance Children\u2019s Hospital, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1108-2788","authenticated-orcid":true,"given":"Moon Bae","family":"Ahn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8609-5826","authenticated-orcid":true,"given":"Chong Kun","family":"Cheon","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Pusan National University Children\u2019s Hospital, Yangsan, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6519-2427","authenticated-orcid":true,"given":"Chan Jong","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Chonnam National University Children\u2019s Hospital, Chonnam National University Medical School, Gwangju, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5297-5913","authenticated-orcid":true,"given":"Han Hyuk","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Chungnam National University College of Medicine, Daejeon, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7655-2691","authenticated-orcid":true,"given":"Sochung","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0918-0565","authenticated-orcid":true,"given":"Won Kyoung","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, St. Vincent\u2019s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6452-655X","authenticated-orcid":true,"given":"Eun-Gyong","family":"Yoo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, CHA Bundang Medical Center, CHA University, Seongnam, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9813-1134","authenticated-orcid":true,"given":"Choong Ho","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul National University College of 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