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.

中文翻译：

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特纳综合症的变脸。

特纳综合征 (TS) 是女性缺少第二性染色体 (45,X) 或其部分的一种病症。它被认为是一种罕见的遗传病，并与广泛的临床特征相关，例如身材矮小、卵巢发育不全、青春期延迟和不育、先天性畸形、内分泌失调，包括一系列自身免疫性疾病和 2 型糖尿病，以及神经认知障碍赤字。与一般人群相比，发病率和死亡率明显增加，诊断时的平均年龄也大大延迟。近年来，很明显，对 TS 患者采用多学科方法是必要的。已经实施了许多临床进展，并对这些进展进行了审查。我们对 TS 基因组结构的理解正在迅速推进，并对这些最新发展进行了审查和讨论。还介绍了几个候选基因、基因组通路和机制，包括改变的转录组和表观基因组。