Turner Syndrome: An Update

Margaret Steiner; Paul Saenger

doi:10.1016/j.yapd.2022.03.004

Turner Syndrome: An Update

Adv Pediatr. 2022 Aug;69(1):177-202. doi: 10.1016/j.yapd.2022.03.004. Epub 2022 Jun 17.

Authors

Margaret Steiner¹, Paul Saenger²

Affiliations

¹ NYU Langone Health-Long Island, 101 Mineola Boulevard, Mineola, NY 11501, USA. Electronic address: Margaret.steiner@nyulangone.org.
² NYU Langone Health-Long Island, 101 Mineola Boulevard, Mineola, NY 11501, USA.

PMID: 35985709
DOI: 10.1016/j.yapd.2022.03.004

Abstract

Turner syndrome is the most common sex chromosome abnormality in women. Infertility and short stature are the most striking findings seen in these patients. Unfortunately, many girls are still being diagnosed too late and therefore early diagnosis and treatment key. Turner syndrome affects many systems of the body; therefore, a comprehensive approach is key for therapeutic intervention.

Keywords: Infertility; Long-acting growth hormone; Short stature; Turner syndrome.

Publication types

Review

MeSH terms

Dwarfism*
Female
Humans
Turner Syndrome* / diagnosis
Turner Syndrome* / epidemiology
Turner Syndrome* / genetics