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 Pediatric Endocrinology & Metabolism 제26권 제3호
- 발행연도
- 2021.9
- 수록면
- 149 - 157 (9page)
- DOI
- 10.6065/apem.2142150.075
이용수
초록· 키워드
오류제보하기
Primary adrenal insufficiency (PAI) in pediatric age is a rare, but potentially fatal condition caused by diverse etiologies including biochemical defects of steroid biosynthesis, developmental abnormalities of the adrenal gland, or reduced responsiveness to adrenocorticotropic hormone. Compared to adult PAI, pediatric PAI is more often the result of genetic (monogenic, syndromic disorders) than acquired conditions. During the past decade, rare monogenic disorders associated with PAI have helped unravel the underlying novel molecular genetic mechanism. The diagnosis of adrenal insufficiency in children and young infancy is often challenging, usually based on clinical suspicion and endocrine laboratory findings. Pediatric endocrinologists sometimes encounter therapeutic difficulty in finding the balance between undertreatment and overtreatment, determining how to optimize the dose over the patient’s lifetime, and maximizing mimicry of normal cortisol secretion with glucocorticoid replacement therapy.
목차
등록된 정보가 없습니다.
참고문헌 (41)
참고문헌 신청
Capalbo D / 2021 / Primary adrenal insufficiency in childhood : data from a large nationwide cohort / J Clin Endocrinol Metab 106:762~773
Buonocore F / 2020 / Primary adrenal insufficiency : new genetic causes and their long-term consequences / Clin Endocrinol 92:11~20
Choi JH / 2012 / Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency / Exp Clin Endocrinol Diabetes 120:23~27
Kim JM / 2011 / High allele frequency of the p. Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia / Eur J Endocrinol 165:771~778
Kang E / 2017 / Mutation spectrum of STAR and the founder effect of p. Q258* in Korean patients with congenital lipoid adrenal hyperplasia / Mol Med 23:149~154
Buonocore F / 2020 / Primary adrenal insufficiency : new genetic causes and their long-term consequences / Clin Endocrinol 92:11~20
Choi JH / 2012 / Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency / Exp Clin Endocrinol Diabetes 120:23~27
Kim JM / 2011 / High allele frequency of the p. Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia / Eur J Endocrinol 165:771~778
Kang E / 2017 / Mutation spectrum of STAR and the founder effect of p. Q258* in Korean patients with congenital lipoid adrenal hyperplasia / Mol Med 23:149~154
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