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21 - Hydroxylase 결핍 선천성 부신 증식증 가계에서 ACTH Stimulation Test
최철준(Cheul Joon Choi),주영실(Young Sil Ju),이기영(Gi Young Yi),김성운(Sung Woon Kim),양인명(In Myung Yang),김진우(Jin Woo Kim),김영설(Young Seoul Kim),최영길(Young Kil Choi),오보훈(Bo Hoon Oh) 대한내과학회 1987 대한내과학회지 Vol.33 No.2
N/A CAH (congenital adrenal hyperplasia) due to 21-hydroxylase (2l-OH) deficiency is a autosomal recessive disorder in which affected homozygotes present with virilization, hirsutism and short stature. For the detection of heterozygote carrier, we measured 17-hydroxy progesterone (17-OHP), progesterone, cortisol and aldosterone after ACTH stimulation to the patient, her family members and controls. The following results were obtained. 1) ACTH stimulation test was a goad test for the confirm diagnosis of homozygotes and the detection of heterozygote carriers in 21-OH deficiency CAH. 2) The patient and two siblings were homozygotes. The mother and one sibling were heterozygotes, and her father was suggested to be a heterozygote without biochemical expression. 3) 21-hydroxylase deficiency of zona glomerulosa was Not deficient in all homozygotes.