Evolution of Health Care in Turner Syndrome

Roopa Kanakatti Shankar; Claus H Gravholt; Philippe F Backeljauw

doi:10.1002/ajmg.c.32124

Evolution of Health Care in Turner Syndrome

Am J Med Genet C Semin Med Genet. 2024 Nov 29:e32124. doi: 10.1002/ajmg.c.32124. Online ahead of print.

Authors

Roopa Kanakatti Shankar^{1

2}, Claus H Gravholt^{3

4

5}, Philippe F Backeljauw⁶

Affiliations

¹ Division of Endocrinology, Children's National Hospital, Washington, DC, USA.
² The George Washington University School of Medicine, Washington, DC, USA.
³ Department of Endocrinology, Aarhus University Hospital, Aarhus N, Denmark.
⁴ Department of Molecular Medicine, Aarhus University Hospital, Aarhus N, Denmark.
⁵ Department of Clinical Medicine, Aarhus University, Aarhus C, Denmark.
⁶ Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

PMID: 39610314
DOI: 10.1002/ajmg.c.32124

Abstract

Turner syndrome was recognized nearly 90 years ago as a distinctive condition and the understanding of pathophysiology, and phenotype has incrementally and substantially changed along with the goals of treatment. Today, multidisciplinary care is imperative, and the latest international consensus guideline has been crafted as a source of comprehensive practical recommendations for interdisciplinary care of individuals with Turner syndrome throughout their lifespan. We review the evolution of health care in Turner syndrome while highlighting the novel recommendations in the recently published international consensus guideline for the care of girls and women with Turner syndrome.

Keywords: Turner syndrome; guidelines; health care; transition.

Publication types

Review