• DOI:10.1038/s41574-019-0224-4
• Corpus ID: 190653543

Turner syndrome: mechanisms and management

@article{Gravholt2019TurnerSM,
  title={Turner syndrome: mechanisms and management},
  author={Claus H{\o}jbjerg Gravholt and Mette Hansen Viuff and Sara Brun and Kirstine Stochholm and Niels Holmark Andersen},
  journal={Nature Reviews Endocrinology},
  year={2019},
  pages={1-14}
}

• C. Gravholt, M. Viuff, +2 authors N. H. Andersen
• Published 18 June 2019
• Medicine
• Nature Reviews Endocrinology

Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mosaic karyotypes. Turner syndrome is associated with short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital malformations of the heart, endocrine disorders such as type 1 and type 2 diabetes mellitus, osteoporosis and autoimmune disorders. Morbidity and mortality are increased in women with Turner syndrome compared with the general population and the involvement of multiple organs through all stages of life necessitates a multidisciplinary approach to care. Despite an often conspicuous phenotype, the diagnostic delay can be substantial and the average age at diagnosis is around 15 years of age. However, numerous important clinical advances have been achieved, covering all specialty fields involved in the care of girls and women with Turner syndrome. Here, we present an updated Review of Turner syndrome, covering advances in genetic and genomic mechanisms of disease, associated disorders and multidisciplinary approaches to patient management, including growth hormone therapy and hormone replacement therapy.Turner syndrome is a rare disorder of women associated with complete or partial loss of one X chromosome. This Review presents an updated discussion of the pathogenetic mechanisms and management of Turner syndrome.Key pointsTurner syndrome is a rare disorder caused by a completely or partially missing X chromosome; diagnosis of this condition is often delayed.Growth is usually compromised and short stature can be treated with growth hormone and oxandrolone, usually leading to substantial increases in final height.Congenital heart abnormalities are frequent and every woman with Turner syndrome should be seen by a cardiologist at least once.Most women with Turner syndrome experience primary or secondary hypergonadotropic hypogonadism, which necessitates treatment with hormone replacement therapy.Compared with the general population, morbidity and mortality are increased in women with Turner syndrome owing to a broad swathe of diseases, demanding vigilance as the individual ages.Optimal care for Turner syndrome necessitates a multidisciplinary team optimally situated within the framework of one hospital.