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일과성 신생아 당뇨병과 선천성 부신 과형성증이 동반된 1례의 유전자 변이

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Author(s)
권혜진박진아이상락김흥식전동석진동규황평한Hye Jin KwonJin A ParkSang Lack LeeHeung Sik KimDong Seok JeonDong Kyu JinPyoung Han Hwang
Keimyung Author(s)
Lee, Sang LakKim, Heung SikJeon, Dong Seok
Department
Dept. of Pediatrics (소아청소년학)
Dept. of Laboratory Medicine (진단검사의학)
Journal Title
대한소아내분비학회지
Issued Date
2002
Volume
7
Issue
1
Abstract
A case of transient neonatal diabetes mellitus combined with congenital adrenal hyperplasia(CAH) is described. A female infant was born by cesarean delivery due to fetal distress, she had sunken eyeball and anterior fontanelle, large protruded tongue and thin subcutaneous tissues. She had large clitoris and progressive pigmentation on whole body was observed since 10th day of birth. Hyperglycemia and glycosuria was noted at 3rd day of birth. Level of insulin and C-peptide was 3.0 mU/L and 0.35 ng/mL respectively. Serum ACTH was 870.4 pg/mL and 17-hydroxyprogesterone was increased to 20,000 ng/dL. Serum Na was 124 mEg/L, K 5.6 mEg/L. Abdominal MRI showed no abnormality. Chromosomal study showed 46,XX. Genetic analysis with polymorphic DNA markers for chromosome 6 showed paternal uniparental isodisomy at D6S276, D6S1704 and DNA analysis of CYP 21 gene showed mutation at P435S. She required insulin therapy for 8 months after birth. Hydrocortisone and florinef was needed for the control of CAH.
일과성 신생아 당뇨병과 염분 소실형의 선천성 부신 과형성증이 동반된 환아에서 6번 염색체의 부계 동종 이체성과 CYP21 유전자 돌연변이를 보인 1례를 경험하였기에 보고하는 바이다.
Alternative Title
Genetic Analysis in a Case of Transient Neonatal Diabetes Mellitus with Congenital Adrenal Hyperplasia
Keimyung Author(s)(Kor)
이상락
김흥식
전동석
Publisher
School of Medicine
Citation
권혜진 et al. (2002). 일과성 신생아 당뇨병과 선천성 부신 과형성증이 동반된 1례의 유전자 변이. 대한소아내분비학회지, 7(1), 116–121.
Type
Article
ISSN
1226-2242
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/39182
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
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