Gravholt Claus H, Viuff Mette, Just Jesper, Sandahl Kristian, Brun Sara, van der Velden Janielle, Andersen Niels H, Skakkebaek Anne
Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus 8200 N, Denmark.
Department of Molecular Medicine, Aarhus University Hospital, Aarhus 8200 N, Denmark.
Endocr Rev. 2023 Jan 12;44(1):33-69. doi: 10.1210/endrev/bnac016.
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.
特纳综合征（TS）是一种女性缺失第二条性染色体（45,X）或其部分片段的病症。它被认为是一种罕见的遗传病症，与多种临床特征相关，如身材矮小、卵巢发育不全、青春期延迟和不孕、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）以及神经认知缺陷。与普通人群相比，发病率和死亡率明显增加，诊断的平均年龄相当延迟。近年来，很明显对于患有TS的患者需要采取多学科方法。已经实施了一些临床进展，并对这些进展进行了综述。我们对TS基因组结构的理解正在迅速推进，对这些最新进展进行了综述和讨论。还介绍了几个候选基因、基因组途径和机制，包括转录组和表观基因组的改变。
