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Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue

Annals of Pediatric Endocrinology & Metabolism 2020년 25권 1호 p.46 ~ 51
Bae Ho-Sun, 김민선, 박효정, 장자현, 최종문, 이새미, 조성윤, 진동규,
소속 상세정보
 ( Bae Ho-Sun ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Pediatrics
김민선 ( Kim Min-Sun ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Pediatrics
박효정 ( Park Hyo-Jung ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Pediatrics
장자현 ( Jang Ja-Hyun ) - Green Cross Genome
최종문 ( Choi Jong-Moon ) - Green Cross Genome
이새미 ( Lee Sae-Mi ) - Green Cross Genome
조성윤 ( Cho Sung-Yoon ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Pediatrics
진동규 ( Jin Dong-Kyu ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Pediatrics

Abstract


Congenital lipoid adrenal hyperplasia (CLAH) is one of the most fatal conditions caused by an abnormality of adrenal and gonadal steroidogenesis. CLAH results from loss-of-function mutations of the steroidogenic acute regulatory (STAR) gene; the disease manifests with electrolyte imbalances and hyperpigmentation in neonates or young infants due to adrenocortical hormone deficiencies, and 46, XY genetic male CLAH patients can be phenotypically female. Meanwhile, some patients with STAR mutations develop hyperpigmentation and mild signs of adrenal insufficiency, such as hypoglycemia, after infancy. These patients are classified as having nonclassic CLAH (NCCLAH) caused by STAR mutations that retain partial activity of STAR. We present the case of a Korean boy with normal genitalia who was diagnosed with NCCLAH. He presented with whole-body hyperpigmentation and electrolyte abnormalities, which were noted at the age of 17 months after an episode of sepsis with peritonitis. The compound heterozygous mutations p.Gly221Ser and c.653C>T in STAR were identified by targeted gene-panel sequencing. Skin hyperpigmentation should be considered an important clue for diagnosing NCCLAH.

키워드

Congenital lipoid adrenal hyperplasia; Nonclassic congenital lipoid adrenal hyperplasia; STAR; Pigmentation

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