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Link to original content: https://pubmed.ncbi.nlm.nih.gov/31213699/
Turner syndrome: mechanisms and management - PubMed Skip to main page content
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Review
. 2019 Oct;15(10):601-614.
doi: 10.1038/s41574-019-0224-4. Epub 2019 Jun 18.

Turner syndrome: mechanisms and management

Claus H Gravholt  1   2 , Mette H Viuff  3   4 , Sara Brun  3 , Kirstine Stochholm  3   5 , Niels H Andersen  6
Affiliations
Review

Turner syndrome: mechanisms and management

Claus H Gravholt et al. Nat Rev Endocrinol. 2019 Oct.

Abstract

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.

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