지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제19권 제4호
- 발행연도
- 2014.1
- 수록면
- 179 - 183 (5page)
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초록· 키워드
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Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females due to disrupted testicular androgen secretion. The StAR p.Q258X mutation accounts for about 70% of affected alleles in most patients of Japanese and Korean ancestry.
However, it is more prevalent (92.3%) in the Korean population. Recently, some patients have been showed that they had late and mild clinical findings. These cases and studies constitute a new entity of 'nonclassic lipoid CAH'. The cholesterol side-chain cleavage enzyme, P450scc (CYP11A1), plays an essential role converting cholesterol to pregnenolone. Although progesterone production from the fetally derived placenta is necessary to maintain a pregnancy to term, some patients with P450scc mutations have recently been reported. P450scc mutations can also cause lipoid CAH and establish a recently recognized human endocrine disorder.
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참고문헌 (21)
참고문헌 신청
Baker BY / 2006 / Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male
Black SM / 1994 / The mitochondrial environment is required for activity of the cholesterol side-chain cleavage enzyme, cytochrome P450scc / Proc Natl Acad Sci U S A 91 : 72
Bose HS / 1996 / The pathophysiology and genetics of congenital lipoid adrenal hyperplasia / N Engl J Med 335 : 1870 ~ 1878
Chang CY / 1988 / Cloning and structure of the human adrenodoxin gene / DNA 7 : 609 ~ 615
Chen X / 2005 / A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings / J Clin Endocrinol Metab 90 : 835 ~ 840
Black SM / 1994 / The mitochondrial environment is required for activity of the cholesterol side-chain cleavage enzyme, cytochrome P450scc / Proc Natl Acad Sci U S A 91 : 72
Bose HS / 1996 / The pathophysiology and genetics of congenital lipoid adrenal hyperplasia / N Engl J Med 335 : 1870 ~ 1878
Chang CY / 1988 / Cloning and structure of the human adrenodoxin gene / DNA 7 : 609 ~ 615
Chen X / 2005 / A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings / J Clin Endocrinol Metab 90 : 835 ~ 840
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