Organ Abnormalities Caused by Turner Syndrome

Abstract

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.

Figure 1

Various karyotypes of Turner syndrome (TS) modified from Huang et al. [8]. Partial or complete loss of the second sex chromosome results in TS. The most common karyotype in TS is monosomy X (45,X), and the others are 45,X/46,XX or 45,X/47,XXX mosaicism, 45,X/45,XY mosaicism, deletion of Xp or Xq, ring X (46,X,rX), and isochromosome Xq.