The Changing Face of Turner Syndrome.

IF 22 1区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Claus H Gravholt, Mette Viuff, Jesper Just, Kristian Sandahl, Sara Brun, Janielle van der Velden, Niels H Andersen, Anne Skakkebaek
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引用次数: 29

Abstract

Turner syndrome (TS) is a condition in females missing the second sex chromosome (45,X) or parts thereof. It is considered a rare genetic condition and is associated with a wide range of clinical stigmata, such as short stature, ovarian dysgenesis, delayed puberty and infertility, congenital malformations, endocrine disorders, including a range of autoimmune conditions and type 2 diabetes, and neurocognitive deficits. Morbidity and mortality are clearly increased compared with the general population and the average age at diagnosis is quite delayed. During recent years it has become clear that a multidisciplinary approach is necessary toward the patient with TS. A number of clinical advances has been implemented, and these are reviewed. Our understanding of the genomic architecture of TS is advancing rapidly, and these latest developments are reviewed and discussed. Several candidate genes, genomic pathways and mechanisms, including an altered transcriptome and epigenome, are also presented.

特纳综合症的变脸。
特纳综合征(TS)是一种女性缺少第二性染色体(45x)或其部分的疾病。它被认为是一种罕见的遗传病,与多种临床症状相关,如身材矮小、卵巢发育不良、青春期延迟和不育、先天性畸形、内分泌紊乱(包括一系列自身免疫性疾病和2型糖尿病)和神经认知缺陷。与一般人群相比,发病率和死亡率明显增加,平均诊断年龄大大延迟。近年来,越来越清楚的是,对TS患者需要多学科的治疗方法。一些临床进展已经实施,并对这些进展进行了回顾。我们对TS基因组结构的理解正在迅速发展,并对这些最新进展进行了回顾和讨论。几个候选基因,基因组途径和机制,包括改变转录组和表观基因组,也提出了。
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来源期刊
Endocrine reviews
Endocrine reviews 医学-内分泌学与代谢
CiteScore
42.00
自引率
1.00%
发文量
29
期刊介绍: Endocrine Reviews, published bimonthly, features concise timely reviews updating key mechanistic and clinical concepts, alongside comprehensive, authoritative articles covering both experimental and clinical endocrinology themes. The journal considers topics informing clinical practice based on emerging and established evidence from clinical research. It also reviews advances in endocrine science stemming from studies in cell biology, immunology, pharmacology, genetics, molecular biology, neuroscience, reproductive medicine, and pediatric endocrinology.
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