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Intractable Rare Dis Res. 2018 Nov;7(4):223-228. doi: 10.5582/irdr.2017.01056.

A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment.

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School of Medicine and Life Sciences, University of Ji'nan-Shandong Academy of Medical Science, Ji'nan, China.
Key Laboratory for Rare Disease Research of Shandong Province, Key Laboratory for Biotech Drugs of the Ministry of Health, Shandong Medical Biotechnological Center, Shandong Academy of Medical Sciences, Ji'nan, China.


Turner syndrome (TS), also known as Congenital ovarian hypoplasia syndrome, occurs when the X chromosome is partially or completely missing in females. Its main clinical manifestations include growth disorders, reproductive system abnormalities, cardiovascular abnormalities, and autoimmune diseases. TS is highly prevalent in China. Timely diagnosis is crucial, and non-invasive prenatal DNA testing can identify TS and other diseases. Treatment of TS mainly involves administration of growth hormone combined with very low doses of estrogen to increase the patients height. This article describes the incidence, complications, diagnosis, and treatment of TS.


Turner syndrome; clinical features; complication; diagnosis; treatment

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