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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제20권 제1호
- 발행연도
- 2015.1
- 수록면
- 1 - 7 (7page)
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초록· 키워드
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Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the mutations in the genes encoding for steroidogenic enzymes that involved cortisol synthesis. More than 90% of cases are caused by a defect in the enzyme 21-hydroxylase. Four other enzyme deficiencies (cholesterol side-chain cleavage, 17α-hydroxylase [P450c17], 11β-hydroxylase [P450c11β], 3β-hydroxysteroid dehydrogenase) in the steroid biosynthesis pathway, along with one cholesterol transport protein defect (steroidogenic acute regulatory protein), and one electrontransfer protein (P450 oxidoreductase) account for the remaining cases. The clinical symptoms of the different forms of CAH result from the particular hormones that are deficient and those that are produced in excess. A characteristic feature of CAH is genital ambiguity or disordered sex development, and most variants are associated with glucocorticoid deficiency. However, in the rare forms of CAH other than 21-hydroxylase deficiency so-called “atypical CAH”, the clinical and hormonal phenotypes can be more complicated, and are not well recognized. This review will focus on the atypical forms of CAH, including the genetic analyses, and phenotypic correlates.
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참고문헌 (20)
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
Bose HS / 1996 / International Congenital Lipoid Adrenal Hyperplasia Consortium. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia / N Engl J Med 335
Bose HS / 1999 / The active form of the steroidogenic acute regulatory protein, StAR, appears to be a molten globule / Proc Natl Acad Sci U S A 96 : 7250 ~ 7255
Hiort O / 2005 / Homozygous disruption of P450 sidechain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure / J Clin
Janejai N / 2003 / Congenital adrenal hyperplasia: should nationwide screening be implemented in Thailand? / Southeast Asian J Trop Med Public Health 34 (Suppl 3) : 170 ~ 173
Bose HS / 1996 / International Congenital Lipoid Adrenal Hyperplasia Consortium. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia / N Engl J Med 335
Bose HS / 1999 / The active form of the steroidogenic acute regulatory protein, StAR, appears to be a molten globule / Proc Natl Acad Sci U S A 96 : 7250 ~ 7255
Hiort O / 2005 / Homozygous disruption of P450 sidechain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure / J Clin
Janejai N / 2003 / Congenital adrenal hyperplasia: should nationwide screening be implemented in Thailand? / Southeast Asian J Trop Med Public Health 34 (Suppl 3) : 170 ~ 173
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Fertility-preserving treatment in complex atypical hyperplasia and early endometrial cancer in young women with oral progestin: Is it effective?
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Case Reports of Congenital Adrenal Hyperplasia with Ambiguous Genitalia: Different Final Gender Results
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