Organ Abnormalities Caused by Turner Syndrome

Cells. 2023 May 11;12(10):1365. doi: 10.3390/cells12101365.


Turner syndrome (TS), a genetic disorder due to incomplete dosage compensation of X-linked genes, affects multiple organ systems, leading to hypogonadotropic hypogonadism, short stature, cardiovascular and vascular abnormalities, liver disease, renal abnormalities, brain abnormalities, and skeletal problems. Patients with TS experience premature ovarian failure with a rapid decline in ovarian function caused by germ cell depletion, and pregnancies carry a high risk of adverse maternal and fetal outcomes. Aortic abnormalities, heart defects, obesity, hypertension, and liver abnormalities, such as steatosis, steatohepatitis, biliary involvement, liver cirrhosis, and nodular regenerative hyperplasia, are commonly observed in patients with TS. The SHOX gene plays a crucial role in short stature and abnormal skeletal phenotype in patients with TS. Abnormal structure formation of the ureter and kidney is also common in patients with TS, and a non-mosaic 45,X karyotype is significantly associated with horseshoe kidneys. TS also affects brain structure and function. In this review, we explore various phenotypic and disease manifestations of TS in different organs, including the reproductive system, cardiovascular system, liver, kidneys, brain, and skeletal system.

Keywords: Turner syndrome; X chromosome inactivation; X monosomy; organ abnormalities.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Heart Defects, Congenital*
  • Humans
  • Karyotype
  • Karyotyping
  • Liver Diseases* / complications
  • Pregnancy
  • Primary Ovarian Insufficiency*
  • Short Stature Homeobox Protein / genetics
  • Turner Syndrome* / complications
  • Turner Syndrome* / genetics


  • SHOX protein, human
  • Short Stature Homeobox Protein

Grants and funding

This work was supported by the National Research Foundation of Korea (NRF) grant funded by the Korea government (MSIT) of the Republic of Korea (Grant No. RS-2023-00208330) and the Korea Institute of Planning and Evaluation for Technology in Food, Agriculture and Forestry (IPET), funded by the Ministry of Agriculture, Food and Rural Affairs (MAFRA) (Grant No. 322006-05-02-CG000).