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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
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- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제21권 제1호
- 발행연도
- 2016.1
- 수록면
- 1 - 6 (6page)
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The term congenital adrenal hyperplasia (CAH) covers a group of autosomal recessive disorders caused by defects in one of the steroidogenic enzymes involved in the synthesis of cortisol or aldosterone from cholesterol in the adrenal glands.
Approximately 95% of all CAH cases are caused by 21-hydroxylase deficiency encoded by the CYP21A2 gene. The disorder is categorized into classical forms, including the salt-wasting and the simple virilizing types, and nonclassical forms based on the severity of the disease. The severity of the clinical features varies according to the level of residual 21-hydroxylase activity. Newborn screening for CAH is performed in many countries to prevent salt-wasting crises in the neonatal period, to prevent male sex assignment in affected females, and to reduce longterm morbidities, such as short stature, gender confusion, and psychosexual disturbances. 17α-hydroxyprogesterone is a marker for 21-hydroxylase deficiency and is measured using a radioimmunoassay, an enzyme-linked immunosorbent assay, or a fluoroimmunoassay. Recently, liquid chromatography linked with tandem mass spectrometry was developed for rapid, highly specific, and sensitive analysis of multiple analytes. Urinary steroid analysis by gas chromatography mass spectrometry also provides qualitative and quantitative data on the excretion of steroid hormone metabolites. Molecular analysis of CYP21A2 is useful for genetic counseling, confirming diagnosis, and predicting prognoses. In conclusion, early detection using neonatal screening tests and treatment can prevent the worst outcomes of 21-hydroxylase deficiency.
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참고문헌 (47)
참고문헌 신청
Speiser PW / 2003 / Congenital adrenal hyperplasia / N Engl J Med 349:776~788
Speiser PW / 2010 / Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline / J Clin Endocrinol Metab 95:4133~4160
New MI / 2004 / An update of congenital adrenal hyperplasia / Ann N Y Acad Sci 1038:14~43
Falhammar H / 2015 / Biochemical and genetic diagnosis of 21-hydroxylase deficiency / Endocrine 50:306~314
Falhammar H / 2012 / Clinical outcomes in the management of congenital adrenal hyperplasia / Endocrine 41:355~373
Speiser PW / 2010 / Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline / J Clin Endocrinol Metab 95:4133~4160
New MI / 2004 / An update of congenital adrenal hyperplasia / Ann N Y Acad Sci 1038:14~43
Falhammar H / 2015 / Biochemical and genetic diagnosis of 21-hydroxylase deficiency / Endocrine 50:306~314
Falhammar H / 2012 / Clinical outcomes in the management of congenital adrenal hyperplasia / Endocrine 41:355~373
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Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation
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Long-Term Outcomes of Congenital Adrenal Hyperplasia
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Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia
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Successful pregnancy and delivery of a patient with congenital adrenal hyperplasia
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알도스테론 분비 부신 선종에 의한 고알도스테론증으로 오인된17알파 수산화효소 결핍증 1예
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Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population
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Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene
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Dried Blood Spot Testing for Seven Steroids Using Liquid Chromatography-Tandem Mass Spectrometry With Reference Interval Determination in the Korean Population
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Adrenal Morphology as an Indicator of Long-Term Disease Control in Adults with Classic 21-Hydroxylase Deficiency
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2022 .02
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Epidemiology and Long-Term Adverse Outcomes in Korean Patients with Congenital Adrenal Hyperplasia: A Nationwide Study
Endocrinology and Metabolism
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Complete Recovery of Oxysterol 7α-Hydroxylase Deficiency by Living Donor Transplantation in a 4-Month-Old Infant: the First Korean Case Report and Literature Review
Journal of Korean Medical Science
2018 .01
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선천성 부신 과형성증(21-hydroxylase 결핍)의 신생아 선별 검사 후 진단 알고리즘
대한유전성대사질환학회지
2016 .01
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Lipoid Congenital Adrenal Hyperplasia Diagnosed in an Infant with Hyperpigmentation Only by Targeted Exome Sequencing
Journal of mucopolysaccharidosis and rare disease
2017 .01
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CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay
Annals of Laboratory Medicine
2015 .01
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Dried Blood Spot Multiplexed Steroid Profiling Using Liquid Chromatography Tandem Mass Spectrometry in Korean Neonates
Annals of Laboratory Medicine
2019 .01
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Case Reports of Congenital Adrenal Hyperplasia with Ambiguous Genitalia: Different Final Gender Results
대한외과학회 학술대회 초록집
2018 .11
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