Molecular tools for diagnosing diseases of the adrenal cortex.

IF 2.6 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Current Opinion in Endocrinology & Diabetes and Obesity Pub Date : 2023-06-01 DOI:10.1097/MED.0000000000000809
Fabio R Faucz, Andrea G Maria, Constantine A Stratakis
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Abstract

Purpose of review: The adrenal glands produce some of the most essential for life hormones, including cortisol and other steroids, and catecholamines. The former is produced from the adrenal cortex, whereas the latter is from the medulla. The two parts are anatomically and functionally distinct and it would be impossible in the context of one short article to cover all molecular updates on both the cortex and the medulla. Thus, in this review, we focus on the molecular tools available for diagnosing adrenocortical diseases, such as adrenal insufficiency, Cushing and Conn syndromes, and their potential for advancing medical care and clinical outcome.

Recent findings: The advent of next generation sequencing opened doors for finding genetic diseases and signaling pathways involved in adrenocortical diseases. In addition, the combination of molecular data and clinicopathologic assessment might be the best approach for an early and precise diagnosis contributing to therapeutic decisions and improvement of patient outcomes.

Summary: Diagnosing adrenocortical diseases can be challenging; however, the progress of molecular tools for adrenocortical disease diagnosis has greatly contributed to early detection and to meliorate patient outcomes.

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诊断肾上腺皮质疾病的分子工具。
综述目的:肾上腺产生一些最重要的生命激素,包括皮质醇和其他类固醇,以及儿茶酚胺。前者由肾上腺皮质产生,而后者由髓质产生。这两个部分在解剖学和功能上是不同的,在一篇短文的背景下,不可能涵盖皮层和髓质的所有分子更新。因此,在这篇综述中,我们将重点关注可用于诊断肾上腺皮质疾病的分子工具,如肾上腺功能不全、库欣综合征和康氏综合征,以及它们在促进医疗保健和临床结果方面的潜力。最新发现:下一代测序的出现为发现与肾上腺皮质疾病有关的遗传疾病和信号通路打开了大门。此外,结合分子数据和临床病理评估可能是早期和精确诊断的最佳方法,有助于治疗决策和改善患者预后。总结:肾上腺皮质疾病的诊断具有挑战性;然而,分子工具在肾上腺皮质疾病诊断方面的进展极大地促进了早期发现和改善患者的预后。
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来源期刊
CiteScore
5.80
自引率
3.10%
发文量
128
审稿时长
6-12 weeks
期刊介绍: ​​​​​​​​Current Opinion in Endocrinology, Diabetes and Obesity delivers a broad-based perspective on the most recent and exciting developments in the field from across the world. Published bimonthly and featuring twelve key topics – including androgens, gastrointestinal hormones, diabetes and the endocrine pancreas, and neuroendocrinology – the journal’s renowned team of guest editors ensure a balanced, expert assessment of the recently published literature in each respective field with insightful editorials and on-the-mark invited reviews.
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