Organ Abnormalities Caused by Turner Syndrome
Sang Hoon Yoon1, Ga Yeon Kim1, Gyu Tae Choi1
1Department of Stem Cell and Regenerative Biotechnology, KU Institute of Technology, Konkuk University, Seoul 05029, Republic of Korea.
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.
Insights
Turner syndrome (TS) is a genetic disorder affecting multiple organ systems. This review details TS manifestations in the reproductive, cardiovascular, liver, kidney, brain, and skeletal systems.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- Turner syndrome (TS) is a genetic disorder resulting from incomplete X-linked gene dosage compensation.
- It impacts multiple organ systems, causing hypogonadotropic hypogonadism, short stature, and abnormalities in the cardiovascular, liver, renal, brain, and skeletal systems.
- Premature ovarian failure and high-risk pregnancies are characteristic of TS due to germ cell depletion.
Purpose of the Study:
- To review the diverse phenotypic and disease manifestations of Turner syndrome across various organ systems.
- To highlight the role of the SHOX gene in skeletal abnormalities.
- To discuss the association between karyotype and renal abnormalities like horseshoe kidneys.
Main Methods:
- Literature review of studies on Turner syndrome.
- Analysis of phenotypic data related to organ system involvement.
- Examination of genetic factors, including X-linked gene dosage and the SHOX gene.
Main Results:
- Common TS manifestations include hypogonadotropic hypogonadism, short stature, cardiovascular issues (aortic abnormalities, heart defects), liver disease (steatosis, cirrhosis), renal abnormalities (horseshoe kidneys), and brain abnormalities.
- The SHOX gene is critical for skeletal development in TS.
- A 45,X karyotype is linked to horseshoe kidneys.
Conclusions:
- Turner syndrome presents with a wide spectrum of multi-systemic complications.
- Early identification and management of TS-related conditions are crucial.
- Further research into the genetic and molecular underpinnings of TS can improve patient outcomes.
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