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A 42-year-old man presented with adrenal incidentaloma due to non-classic congenital adrenal hyperplasia with a novel CYP21A2 mutation.

作者信息

Falhammar H, Torpy D J

机构信息

Menzies School of Health Research, Royal Darwin Hospital, Darwin, Northern Territory, Australia.

Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden.

出版信息

Intern Med J. 2016 Sep;46(9):1115-6. doi: 10.1111/imj.13177.

DOI:10.1111/imj.13177
PMID:27633475
Abstract
摘要

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Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.3β-羟类固醇脱氢酶 2 型缺陷导致先天性肾上腺皮质增生的临床观点。
Endocrine. 2019 Mar;63(3):407-421. doi: 10.1007/s12020-018-01835-3. Epub 2019 Feb 4.
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Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
11β-羟化酶缺乏所致先天性肾上腺皮质增生症的临床观点
Endocrine. 2017 Jan;55(1):19-36. doi: 10.1007/s12020-016-1189-x. Epub 2016 Dec 7.