The Changing Face of Turner Syndrome

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.

Automated summary

Turner syndrome is a rare genetic condition in females characterized by the absence or partial absence of the second sex chromosome, resulting in various clinical features such as short stature, ovarian dysgenesis, delayed puberty and infertility, congenital malformations, endocrine disorders, and neurocognitive deficits. A multidisciplinary approach is necessary for the management of TS, and recent clinical advances and genomic discoveries in this field are reviewed and discussed.