非经典型先天性肾上腺皮质增生症：内分泌医生需要了解什么？
Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?
机构信息
Section on Congenital Disorders, National Institutes of Health Clinical Center, Bethesda, MD 20892, USA; Metabolic Diseases Branch, National Institutes of Diabetes and Digestive and Kidney Diseases, 9000 Rockville Pike, Room 9C432A, Bethesda, MD 20892, USA. Electronic address: https://twitter.com/docsmita_jha.
Division of Metabolism, Endocrinology and Diabetes, University of Michigan, 1150 West Medical Center Drive, MSRB II, 5570B, Ann Arbor, MI 48109, USA.
出版信息
Endocrinol Metab Clin North Am. 2021 Mar;50(1):151-165. doi: 10.1016/j.ecl.2020.10.008. Epub 2021 Jan 9.
Abstract
Congenital adrenal hyperplasia encompasses a group of autosomal recessive defects in cortisol biosynthesis, and 21-hydroxylase deficiency accounts for 95% of such cases. Non-classic 21-hydroxylase deficiency is due to partial enzymatic defects, which present with normal cortisol synthesis, but excessive production of adrenal androgens, including 11-oxygenated androgens. Non-classic 21-hydroxylase deficiency is relatively common, and its phenotype resembles closely that of polycystic ovary syndrome. This review focuses primarily on non-classic 21-hydroxylase deficiency, its clinical features, diagnosis, and management.
摘要
先天性肾上腺皮质增生症是一组常染色体隐性缺陷的皮质醇生物合成疾病，其中 21-羟化酶缺乏占此类病例的 95%。非经典 21-羟化酶缺乏症是由于部分酶缺陷引起的，其表现为正常的皮质醇合成，但肾上腺雄激素的过度产生，包括 11-氧化雄激素。非经典 21-羟化酶缺乏症较为常见，其表型与多囊卵巢综合征非常相似。本综述主要关注非经典 21-羟化酶缺乏症的临床表现、诊断和治疗。
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J Clin Endocrinol Metab. 2020 Aug 1;105(8). doi: 10.1210/clinem/dgaa369.
2
Androgen excess and diagnostic steroid biomarkers for nonclassic 21-hydroxylase deficiency without cosyntropin stimulation.雄激素过多症和非经典 21-羟化酶缺乏症的诊断类固醇生物标志物，无需促皮质素刺激。
Eur J Endocrinol. 2020 Jul;183(1):63-71. doi: 10.1530/EJE-20-0129.
3
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J Endocrinol Invest. 2020 Oct;43(10):1499-1509. doi: 10.1007/s40618-020-01235-3. Epub 2020 Mar 31.
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Endocrine. 2019 Mar;63(3):407-421. doi: 10.1007/s12020-018-01835-3. Epub 2019 Feb 4.
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J Clin Endocrinol Metab. 2018 Nov 1;103(11):4043-4088. doi: 10.1210/jc.2018-01865.
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J Clin Endocrinol Metab. 2018 Dec 1;103(12):4589-4598. doi: 10.1210/jc.2018-00736.
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