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

Yoonha Lee, Minsun Kim, Yun Jeong Lee, Sung Yoon Cho, Junghwan Suh, Moon Bae Ahn, Chong Kun Cheon, Chan Jong Kim, Han Hyuk Lim, Sochung Chung, Won Kyoung Cho, Eun-Gyong Yoo, Choong Ho Shin, Han-Wook Yoo, Young Ah Lee · 2026

Read 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 by Yoonha Lee, Minsun Kim, Yun Jeong Lee, Sung Yoon Cho, Junghwan Suh, Moon Bae Ahn, Chong Kun Cheon, Chan Jong Kim, Han Hyuk Lim, Sochung Chung, Won Kyoung Cho, Eun-Gyong Yoo, Choong Ho Shin, Han-Wook Yoo, Young Ah Lee (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13555223.txt.

Description

Yoonha Lee and colleagues report long-term outcomes for Korean children with lipoid congenital adrenal hyperplasia, a rare steroid-making disorder, publishing the multicentre study in 2026. Faults in the STAR protein block cholesterol transport inside hormone-making cells, crippling cortisol, aldosterone, and sex-hormone production. The team followed 31 patients from ten centres, nearly all with the classic form diagnosed in infancy.

Salt wasting affected about six in ten patients, and darkened skin was the most common feature, seen in over seven in ten. Most classic patients carried the same East Asian founder variant, and those reaching adulthood attained near-average height on hormone replacement. The authors call for continued follow-up of puberty and fertility, since ovarian cysts and varied pubertal timing appeared in the cohort.

Catalog record

CREATORYoonha Lee, Minsun Kim, Yun Jeong Lee, Sung Yoon Cho, Junghwan Suh, Moon Bae Ahn, Chong Kun Cheon, Chan Jong Kim, Han Hyuk Lim, Sochung Chung, Won Kyoung Cho, Eun-Gyong Yoo, Choong Ho Shin, Han-Wook Yoo, Young Ah Lee
YEAR2026
COLLECTIONPAPERS
FORMATTXT
FILE SIZE23 KB
VERSION1.0
LICENSECC BY 4.0
RIGHTSCC BY
SOURCEEurope PMC

Source: https://europepmc.org/articles/PMC13555223

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