일과성 신생아 당뇨병과 선천성 부신 과형성증이 동반된 1례의 유전자 변이

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.